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List of works by James F. Gusella

2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling

scientific article

A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy

scientific article published on 01 January 1992

A DNA polymorphism for Huntington's disease marks the future

scientific article

A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3.

scientific article published on February 1988

A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal

scientific journal article

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

scientific article

A RsaI polymorphism in the ERCC2 locus

scientific article published on August 1, 1992

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group

scientific article published on 01 August 1996

A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome

scientific article published on 23 March 2017

A dinucleotide repeat polymorphism at the D4S127 locus

scientific article published on May 1, 1992

A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene.

scientific article published in March 1995

A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

scientific article published in December 1991

A genetic linkage map of chromosome 17

scientific article published on 01 September 1990

A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age ⬇️

scientific article published on March 1, 1992

A genetic linkage map of human chromosome 9q

scientific article published on November 1, 1992

A genetic linkage map of the chromosome 4 short arm.

scientific article published in January 1993

A genetic linkage map of the long arm of human chromosome 22.

scientific article published on January 1989

A genetic map of chromosome 1: comparison of different data sets and linkage programs

scientific article

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

scientific article

A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study

scientific article

A high-resolution linkage map of human 9q34.1.

scientific article published on 01 September 1993

A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas

scientific article

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect

scientific article

A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21.

scientific article

A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families

scientific article published in June 1993

A locus for cerebral cavernous malformations maps to chromosome 7q in two families

scientific article

A modifier of Huntington's disease onset at the MLH1 locus

scientific article published in October 2017

A molecular genetic approach to Huntington's disease

scientific article

A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene

scientific article published in November 1989

A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113.

scientific article

A novel approach to investigate tissue-specific trinucleotide repeat instability

scientific article

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings

scientific article published on 10 July 2017

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

scientific article published on December 2016

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

scientific article published on 22 June 2016

A polymorphic DNA marker genetically linked to Huntington's disease ⬇️

scientific article published on November 17, 1983

A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.

scientific article

A recombination event that redefines the Huntington disease region

scientific article

A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers.

scientific article

A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription

scientific article published on 01 December 1998

A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene

scientific article published in September 1987

A tiger behind many doors: multiple genetic pathways to malignant glioma

scientific article published on October 1995

A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene

scientific article

Accumulation of wild type p53 protein in human astrocytomas

scientific article published on 01 August 1993

Accuracy of testing for Huntington's disease

scientific article published in September 1986

Advances in neurofibromatosis 2 (NF2): a workshop report

scientific article

Age- and gender-dependent obesity in individuals with 16p11.2 deletion

scientific article published on 17 August 2011

Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis

scientific article published on 01 April 1999

Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus

scientific article published in February 1987

Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins

scientific article published in July 1998

Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease

scientific article published in August 1988

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus

scientific article published on 01 December 1992

An ancient founder mutation in PROKR2 impairs human reproduction

scientific article

An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin

scientific article published in May 2012

An expression-independent catalog of genes from human chromosome 22.

scientific article

An improved approach to prepare human brains for research

scientific article published on 01 January 1995

An index marker map of chromosome 9 provides strong evidence for positive interference

scientific article

An ovine transgenic Huntington's disease model

scientific article

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism

scientific article published in February 1999

Analysis of the beta-amyloid protein precursor of Alzheimer's disease: mRNAs and protein products

scientific article published on January 1990

Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease

scientific article

Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas

scientific article

Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma

scientific article

Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease

scientific article published in January 1994

Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases

scientific article published in January 1995

Application of recombinant DNA techniques to neurogenetic disorders

scientific article published on January 1, 1983

Assessing Population Level Genetic Instability via Moving Average

scientific article published on 24 November 2010

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

scientific article

Assessment of cortical and striatal involvement in 523 Huntington disease brains

scientific article

Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage

scientific article published in Nature

Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR

scientific article published on 01 January 1998

Association between microdeletion and microduplication at 16p11.2 and autism

scientific article

Association of a polymorphism near CREB1 with differential aversion processing in the insula of healthy participants

scientific article published on August 2008

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease

scientific article (publication date: August 1993)

Association of the long QT syndrome With goiter and deafness

scientific article published on March 2010

Authors' response to commentaries

Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes

scientific article published on March 2014

BDNF, relative preference, and reward circuitry responses to emotional communication

scientific article published in September 2009

BanI polymorphism at the XBP1 locus

scientific article published on September 1990

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

scientific article

Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease

scientific article published on 7 September 2006

CAG repeat number governs the development rate of pathology in Huntington's disease

scientific article published in May 1997

CEPH Consortium Map of Chromosome 9

scientific article published on 01 January 1994

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

scientific article

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 05 May 2016

Candidate DNA replication initiation regions at human trinucleotide repeat disease loci ⬇️

scientific article published on May 1, 2003

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

scientific article

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

scientific article published on 01 January 2007

Changing models of biomedical research

scientific article published in October 2009

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

scientific article published on 5 September 2008

Characterization of a duplication in the terminal band of 4p by molecular cytogenetics ⬇️

scientific article published on April 1, 1993

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

scientific article published on March 2008

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

scientific article published on 31 May 2016

Chromosomal localization of the gene for human B-cell antigen CD40 ⬇️

scientific article published on 01 May 1993

Chromosomal localization of the mouse homolog of the Huntington's disease linked G8 (D4S10) marker

scientific article published in October 1987

Chromosome 19q Deletions in Human Gliomas Overlap Telomeric to D19S219 and May Target a 425 kb Region Centromeric to D19S112 ⬇️

scientific article published on September 1, 1995

Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree

scientific article published on January 1, 1992

Chromosome jumping from D4S10 (G8) toward the Huntington disease gene

scientific article

Chromosome-mediated transfer of the malignant phenotype by human acute myelogenous leukemic cells

scientific article published on 01 October 1984

Clinical diagnosis by whole-genome sequencing of a prenatal sample

scientific article

Clinical genetic testing for patients with autism spectrum disorders

scientific article

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials

scientific article

Clonal analysis of a case of multiple meningiomas using multiple molecular genetic approaches: pathology case report

scientific article published in August 1999

Cloning of a highly conserved human protein serine-threonine phosphatase gene from the glioma candidate region on chromosome 19q13.3.

scientific article

Cloning, characterization, and genomic structure of the mouse Ikbkap gene

scientific article published in September 2001

Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31.

scientific article published in January 2000

Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31

scientific article

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

scientific article

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis

scientific article

Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17

scientific article

Comparison of Clinical Subgroup aCGH Profiles through Pseudolikelihood Ratio Tests.

scientific article

Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line

scientific article published on December 1992

Complex patterns of linkage disequilibrium in the Huntington disease region ⬇️

scientific article published on October 1, 1991

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

scientific article

Construction of a GT polymorphism map of human 9q

scientific article published on February 1, 1992

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

scientific article

Copy number variation in familial Parkinson disease

scientific article

Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression

scientific article published on 25 July 2016

Correction: dtorsin, the Drosophila Ortholog of the Early-Onset Dystonia TOR1A (DYT1), Plays a Novel Role in Dopamine Metabolism

scientific article published on 31 October 2011

Cover Image, Volume 173A, Number 2, February 2017

D22S15--a fetal brain cDNA with BanII and SacI RFLP.

scientific article published on February 1988

DNA Markers for Nervous System Diseases ⬇️

scientific article published on September 21, 1984

DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree

scientific article published in November 1993

DNA methylation affecting the expression of murine leukemia proviruses ⬇️

scientific article published on October 1, 1982

DNA polymorphism and human disease

scientific article

DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11

scientific article

Deficiency of Huntingtin Has Pleiotropic Effects in the Social Amoeba Dictyostelium discoideum ⬇️

scientific article published on April 28, 2011

Defined physical limits of the Huntington disease gene candidate region ⬇️

scientific article published on July 1, 1991

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.

scientific article

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

scientific article

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature

scientific article published on 17 April 2014

Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex.

scientific article published on January 1990

Detection by PCR of a VNTR polymorphism at D4S43 ⬇️

scientific article published on September 11, 1991

Detection by PCR of the VNTR polymorphism at D4S95

scientific article

Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects ⬇️

scientific article published on January 17, 2013

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance

scientific article

Different gene loci for hyperkalemic and hypokalemic periodic paralysis ⬇️

scientific article published on 01 January 1991

Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative ⬇️

scientific article published on August 12, 2011

Differential expression of normal and mutant Huntington's disease gene alleles

scientific article published in January 1996

Dinucleotide repeat polymorphism (D16S285) on human chromosome 16

scientific article

Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34) ⬇️

scientific article published on February 25, 1992

Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34) ⬇️

scientific article published on February 25, 1992

Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34).

scientific article

Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34).

scientific article

Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34)

scientific article

Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34).

scientific article

Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34) ⬇️

scientific article published on February 25, 1992

Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34) ⬇️

scientific article published on February 25, 1992

Dinucleotide repeat polymorphism at the D9S123 locus (9q31-34) ⬇️

scientific article published on February 25, 1992

Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus

scientific article published on May 1991

Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2).

scientific article

Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32–34 ⬇️

scientific article published on May 1, 1992

Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus

scientific article published in April 1993

Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1 ⬇️

scientific article published on October 1, 1992

Discrepancy resolved

scientific article published in November 1993

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities ⬇️

scientific article published on April 16, 2013

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

scientific article

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

scientific article

Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities

scientific article published in March 2007

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice

scientific article

Disruption of neurexin 1 associated with autism spectrum disorder

scientific article

Dissociation of hemoglobin accumulation and commitment during murine erythroleukemia cell differentiation by treatment with imidazole

scientific article published in October 1982

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy ⬇️

scientific article published on April 16, 2013

Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway

scientific article published on 24 August 2009

Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice

scientific article published in March 2002

Elastic DNA elements--boon or blight?

scientific article published on 01 August 1993

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

scientific article published on February 2016

Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting

scientific article

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

scientific article

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

scientific article

Evidence for subarachnoid spread in the development of multiple meningiomas

scientific article published on 01 January 1995

Evidence for the GluR6 gene associated with younger onset age of Huntington's disease

scientific article published in October 1999

Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus

scientific article

Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis

scientific article published on 01 January 1987

Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas

scientific article

Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p 16.3

article

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Expanding the notion of disease in Huntington's disease

scientific article

Expanding the phenotype and genotype of female GnRH deficiency

scientific article

Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment.

scientific article

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis ⬇️

scientific article published on September 4, 2012

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.

scientific article

Factors associated with HD CAG repeat instability in Huntington disease

scientific article published on 27 July 2007

Familial Alzheimer's disease: progress and problems

scientific article published on September 1989

Familial dysautonomia

scientific article (publication date: June 2002)

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium

scientific article

Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes

scientific article published on 2 October 2012

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.

scientific article

Frequency and distribution of NF2 mutations in schwannomas

scientific article published on 01 September 1996

Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative 'tumor progression' locus

scientific article published on 01 February 1997

Further characterization of Pstl RFLPs at the acid alpha glucosidase (GAA) locus ⬇️

scientific article published on April 11, 1991

Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates

scientific article published in January 2013

Gamma-glutamyl transferase locus (GGT) displays a PvuII polymorphism

scientific article published on December 1988

Gene linkage in familial amyotrophic lateral sclerosis: a progress report.

scientific article published in January 1991

Generation and characterization of irradiation hybrids of human chromosome 4.

scientific article published on September 1991

Genetic Linkage of the Huntington’s Disease Gene to a DNA Marker ⬇️

scientific article published on November 1, 1984

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

scientific article

Genetic analysis of the GRIK2 modifier effect in Huntington's disease

scientific article published on 7 September 2006

Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W.

scientific article

Genetic analysis workshop IV: Huntington disease linkage analysis, data description

scientific article published on 01 January 1986

Genetic criteria for Huntington's disease pathogenesis

scientific article published on 15 November 2006

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

scientific article

Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences

scientific article

Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers

scientific article published in May 1994

Genetic linkage analysis of neurofibromatosis with DNA markers

scientific article published on 01 January 1986

Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families

scientific article published on December 1985

Genetic linkage map for chromosome 21.

scientific article published in January 1985

Genetic linkage map of human chromosome 21

scientific article published on 01 August 1988

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

scientific article published in Nature

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

article

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder

scientific article published in September 1990

Genetic modifiers of Huntington's disease

scientific article

Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression

scientific article published on 01 March 1998

Genome-wide scan for Parkinson's disease: the GenePD Study

scientific article

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

scientific article

Genomewide association study for onset age in Parkinson disease

scientific article

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

scientific article

Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease

scientific article

Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas

scientific article

Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.

scientific article

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism

scientific article published on 22 August 2005

HD CAG-correlated gene expression changes support a simple dominant gain of function ⬇️

scientific article published on May 2, 2011

HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes

scientific article

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

scientific article published on 25 January 2013

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

scientific article published on April 2012

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

scientific article published on 05 February 2015

Haplotype-based stratification of Huntington's disease

scientific article

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

scientific article

Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation.

scientific article published in September 1980

Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: The GenePD Study

article

Heritability of Risk for Sudden Cardiac Arrest in ESRD.

scientific article

Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum.

scientific article published in May 1997

High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds

scientific article published on 27 February 2017

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

scientific article published on December 2012

Homozygote for Huntington disease

scientific article

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation

scientific article

Human chromosome 7: DNA sequence and biology

scientific article

Hunting for Huntington's disease.

scientific article published in January 1993

Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum

scientific article published in January 2014

Huntingtin facilitates polycomb repressive complex 2.

scientific article

Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons

scientific article

Huntingtin interacts with a family of WW domain proteins ⬇️

scientific article published on September 1, 1998

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion ⬇️

scientific article published on December 1, 1997

Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis

scientific article

Huntingtin: a single bait hooks many species ⬇️

scientific article published on June 1, 1998

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

scientific article

Huntington disease

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

scientific article published on July 1991

Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization

scientific article published on September 1986

Huntington disease: Estimation of heterozygote status using linked genetic markers ⬇️

scientific article published on January 1, 1984

Huntington's disease

scientific article published on 01 January 1991

Huntington's disease

scientific article published on 01 February 1995

Huntington's disease

scientific article published on 01 January 1996

Huntington's disease

scientific article published on 01 January 2003

Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains

scientific article published in December 1994

Huntington's disease and repeating trinucleotides

scientific article published in May 1994

Huntington's disease. Pathogenesis and management

scientific article published on November 1986

Huntington's disease: CAG genetics expands neurobiology

scientific article published on October 1995

Huntington's disease: seeing the pathogenic process through a genetic lens

scientific article published on 10 July 2006

Huntington's disease: the case for genetic modifiers

scientific article published on 21 August 2009

Huntington's disease: translating a CAG repeat into a pathogenic mechanism

scientific article published on October 1996

Huntingtons disease: linkage with G8 on chromosome 4 and its consequences

scientific article

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

scientific article

Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect

scientific article published on 01 January 1996

Identification and characterization of two novel tetratricopeptide repeat-containing genes

scientific article

Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor ⬇️

scientific article published on November 15, 1992

Identification of a novel kindred with familial pancreatitis and pancreatic cancer

scientific article published on 29 April 2009

Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice

scientific article published in September 2002

Identification of human chromosome 9 specific genes using exon amplification

scientific article published on November 1993

Identification of the first non-Jewish mutation in familial Dysautonomia

scientific article (publication date: May 2003)

Immunohistochemical localization of the D1 dopamine receptor in rat brain reveals its axonal transport, pre- and postsynaptic localization, and prevalence in the basal ganglia, limbic system, and thalamic reticular nucleus ⬇️

scientific article published on December 15, 1992

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

scientific article published on 19 October 2016

Inactivation of the mouse Huntington's disease gene homolog Hdh

scientific journal article

Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma

scientific article

Induction of erythroid differentiation in vitro by purines and purine analogues

scientific article published on June 1, 1976

Inflammatory bowel disease: Is it in the genes? ⬇️

scientific article published on 01 November 1998

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

scientific article published on June 2006

Inhibition by dexamethasone of commitment to erythroid differentiation in murine erythroleukemia cells ⬇️

scientific article published on October 1, 1979

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

scientific article published on 01 June 2003

Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF

scientific article published on 01 November 1999

Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family ⬇️

scientific article published on December 28, 2010

Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase

scientific article published in December 1986

Isolation and localization of DNA segments from specific human chromosomes

scientific article

Isolation of a novel gene underlying batten disease, CLN3

article

Isolation of polymorphic DNA fragments from human chromosome 4.

scientific article

Isolation of polymorphic DNA segments from human chromosome 21.

scientific article published on September 1985

Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex

scientific article

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

scientific article

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

scientific article published on 20 March 2013

Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21

scientific article

Large-scale medical resequencing for X-linked mental retardation

scientific article published on 29 December 2009

Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

scientific article

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

scientific article published in January 1999

Linkage analyses of multiple endocrine neoplasia, type 2A (MEN-2A) with 20 DNA polymorphisms: 5% of the genome excluded

Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate

scientific article

Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets.

scientific article published on January 1993

Linkage analysis in juvenile neuronal ceroid lipofuscinosis

scientific article published on February 1992

Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.

scientific article published on January 1994

Linkage map on chromosome 21q and the association of a DNA haplotype with a propensity to nondisjunction and trisomy 21

scientific article published on 01 January 1985

Linkage of G8 (D4S10) in two Swedish families with Huntington's disease

scientific article published in November 1987

Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: additional evidence

scientific article

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

scientific article published in January 1992

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

scientific article

Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16

scientific article

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity

scientific article

Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes

scientific article published on 01 June 1987

Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease

scientific article

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice

scientific journal article

Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease

scientific article published in January 1995

Loss of chromosome 22 alleles in human sporadic spinal schwannomas

scientific article published on 01 February 1991

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

scientific article published on August 1986

Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2

scientific article published on 01 December 1998

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

scientific journal article

MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p

scientific article published on 01 October 1994

Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation

scientific article

Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2

scientific article

Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22

scientific article (publication date: 15 March 1994)

Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer

scientific article (publication date: October 1999)

Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3

scientific article published on January 1, 1992

Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16----p15.

scientific article published in January 1986

Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21

scientific article

Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a)

scientific article

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes

scientific article

MboI RFLP at the D4S43 (C4H) locus

scientific article

Meclizine is neuroprotective in models of Huntington's disease ⬇️

scientific article published on October 25, 2010

Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency

scientific article

Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation

scientific journal article

Merlin: the neurofibromatosis 2 tumor suppressor

scientific article

Metabolic disruption identified in the Huntington's disease transgenic sheep model

scientific article published on 11 February 2016

Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors ⬇️

scientific article published on April 15, 1998

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

scientific article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth

scientific article

Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis

scientific article published on January 1987

Modification of the Na+ current conducted by the rat skeletal muscle ? subunit by coexpression with a human brain ? subunit ⬇️

scientific article published on April 1, 1993

Modified single-stranded oligonucleotides inhibit aggregate formation and toxicity induced by expanded polyglutamine

scientific article published on January 2004

Molecular Analysis of the NF2 Tumor-Suppressor Gene in Schwannomatosis ⬇️

scientific article published on December 1, 1997

Molecular Genetics of Familial Alzheimer’s Disease

article

Molecular Neurobiology and Genetics: Investigation of Neural Function and Dysfunction ⬇️

scientific article published on March 1, 1998

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

scientific article published on March 2013

Molecular analysis of chromosome 21 using somatic cell hybrids

scientific article published on 01 January 1985

Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

scientific article

Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy

scientific article

Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor

scientific article

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4 ⬇️

scientific article published on December 1, 1991

Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome

scientific article published on November 1, 1992

Molecular genetic approach to human meningioma: loss of genes on chromosome 22

scientific article

Molecular genetic approaches to Alzheimer's disease

scientific article published on April 1989

Molecular genetic strategies to investigate Huntington's disease.

scientific article published on January 1988

Molecular genetics of Alzheimer disease amyloid

scientific article

Molecular genetics of Huntington's disease

scientific article

Molecular genetics of Huntington's disease

scientific article published on 01 January 1986

Molecular genetics of familial Alzheimer's disease

scientific article

Molecular genetics of human chromosome 21.

scientific article

Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma).

scientific article published on January 1991

Molecular genetics of pediatric brain stem gliomas. Application of PCR techniques to small and archival brain tumor specimens

scientific article published on September 1993

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

scientific article

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy

scientific article

Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations

scientific article

Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency

scientific article published on February 1, 1991

Monozygotic twins discordant for neurofibromatosis 1.

scientific article

Mosaic copy number variation in schizophrenia

scientific article

Mouse Huntington's disease gene homolog (Hdh).

scientific article

Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments

scientific article published in June 1993

MspI RFLP for human MAOA gene

scientific article published on December 1989

Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment

scientific article published on October 1999

Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars

scientific article published on 10 March 2016

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

scientific article

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types

scientific article

NF2 gene analysis distinguishes hemangiopericytoma from meningioma.

scientific article published on November 1995

NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth

scientific article published on 18 May 2009

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

scientific article published on 25 May 2007

NHE-RF, a Regulatory Cofactor for Na+-H+Exchange, Is a Common Interactor for Merlin and ERM (MERM) Proteins ⬇️

scientific article published on January 16, 1998

Neurofibromatosis 2 gene in human colorectal cancer

scientific article published on 01 October 1995

Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred

scientific article

Neurofibromatosis 2: loss of merlin's protective spell

scientific article published on February 1996

Neurofibromatosis type 1 gene mutations in neuroblastoma

scientific article published on January 1993

Neuropathology and Molecular Genetics of Neurofibromatosis 2 and Related Tumors ⬇️

scientific article published on April 1, 1995

New DNA markers in the Huntington's disease gene candidate region ⬇️

scientific article published on September 1, 1991

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

scientific article

No association between alpha 1-antichymotrypsin and familial Alzheimer's disease

scientific article published in December 1996

No genetic effect of alpha1-antichymotrypsin in Alzheimer disease

scientific article published in April 1996

No post-genetics era in human disease research

scientific article

Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels

scientific article published on 6 February 2017

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

scientific article

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

scientific article

Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma.

scientific article published in July 2018

PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study

scientific article published on 27 March 2002

Pain correlates with germline mutation in schwannomatosis

scientific article published in February 2018

Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes

scientific article published on 01 January 1988

Patient and physician attitudes regarding clinical trials in neurofibromatosis 1.

scientific article

Peripherin gene is linked to keratin 18 gene on human chromosome 12

scientific article published on 01 January 1995

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.

scientific article published in October 2016

Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4.

scientific article published in October 1989

Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4.

scientific article published in September 1987

Physical mapping of a translocation breakpoint in neurofibromatosis

scientific article published on 01 June 1989

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

scientific article

Population-specific genetic modification of Huntington's disease in Venezuela.

scientific article

Potential molecular consequences of transgene integration: The R6/2 mouse example

scientific article published on 25 January 2017

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

scientific article

Predictive testing for Huntington's disease with use of a linked DNA marker

scientific article published in March 1988

Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33

scientific article published on 01 November 1995

Prenatal diagnostic testing for familial dysautonomia using linked genetic markers

scientific article published on 01 September 1995

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

scientific article

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder

scientific article

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder

scientific article

Progress toward the Isolation and Characterization of the Genes Causing Neurofibromatosis ⬇️

scientific article published on September 1, 1990

Progress towards the isolation and characterization of the genes causing neurofibromatosis

scientific article published on January 1990

Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease

scientific article

Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease

scientific article published on February 1, 1992

Quantitative neuropathological changes in presymptomatic Huntington's disease

scientific article published in January 2001

RFLPS at the D21S19 locus of human chromosome 21.

scientific article

RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression

scientific article published on 4 December 2015

Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.

scientific article published on August 1992

Rapid induction of Alzheimer A beta amyloid formation by zinc

scientific article published in September 1994

Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation

scientific article published on 15 February 2017

Recombinant DNA techniques in the diagnosis of inherited disorders

scientific article published on June 1986

Reduced penetrance of the Huntington's disease mutation

scientific article published in May 1997

Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig

scientific article published on November 1995

Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes

scientific article

Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22.

scientific article published on January 1986

Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids

scientific article

Regulation of mTOR Complex 2 Signaling in Neurofibromatosis 2–Deficient Target Cell Types ⬇️

scientific article published on March 16, 2012

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

scientific article published in August 1993

Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts.

scientific article

Replication of association between ELAVL4 and Parkinson disease: the GenePD study

scientific article

Report of the Committee on the Genetic Constitution of Chromosomes 3 and 4

scientific article published on 01 January 1985

Report of the committee on the genetic constitution of chromosomes 3 and 4

scientific article published on 01 January 1987

Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.

scientific article published in May 1997

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

scientific article

Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation

scientific article

Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion

scientific article published on 01 January 1985

Role of common and rare APP DNA sequence variants in Alzheimer disease

scientific article published on 4 April 2012

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

Screening for familial APP mutations in sporadic cerebral amyloid angiopathy

scientific article

Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide

scientific article published on 4 November 2009

Sequence Analysis and Mapping of a Novel Human Mitochondrial ATP Synthase Subunit 9 cDNA (ATP5G3) ⬇️

scientific article published on November 15, 1994

Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice

scientific article published in December 1996

Sequence-Level Analysis of the Major European Huntington Disease Haplotype

scientific article

Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21

scientific article published on 01 October 1992

Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region

scientific article published on May 1, 1992

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

scientific article published on 19 April 2012

Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease.

scientific article published in November 1992

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

scientific article published in September 1995

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice

scientific article published in March 2003

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy

scientific article

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews ⬇️

scientific article published on March 1, 1992

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

scientific article published on 13 October 2016

Studies of a DNA marker (G8) genetically linked to Huntington disease in British families

scientific article published in August 1986

Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5.

scientific article published in July 1994

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

scientific article

Targeted inactivation of the mouse Huntington's disease gene homolog Hdh

scientific article published on January 1, 1996

The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism

scientific article

The CEPH consortium linkage map of human chromosome 16

scientific article published on 01 January 1995

The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development

scientific article published on 28 August 2014

The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21)

scientific article published on 01 August 1988

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane ⬇️

scientific article published on August 1, 1998

The GPR54 gene as a regulator of puberty

scientific article (publication date: 23 October 2003)

The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease

scientific article published on September 2015

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

scientific article

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

scientific article published on February 2016

The NF2 gene and merlin protein in human osteosarcomas

scientific article published on 01 December 1998

The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function.

scientific article published on 7 February 2005

The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation

scientific journal article

The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11

scientific article published on January 1, 1992

The beta amyloid protein precursor: mRNAs, membrane-associated forms, and soluble derivatives.

scientific article

The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain

scientific article

The direct screening of cosmid libraries with YAC clones

scientific article published on December 1991

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein ⬇️

scientific article published on September 1, 1997

The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs

scientific article published on June 1989

The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family

scientific article published on January 1, 1998

The gene for achondroplasia maps to the telomeric region of chromosome 4p

scientific article published on 01 March 1994

The genetic defect causing Huntington's disease: repeated in other contexts?

scientific article published on April 1997

The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene

scientific article published in September 1987

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The genomic structure of the human skeletal muscle sodium channel gene

scientific article (publication date: October 1992)

The importance of genetic mosaicism in human disease

scientific article published on 01 November 1994

The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library

scientific article published on March 1993

The molecular biology of human glial tumors

scientific article published on January 1988

The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms

scientific article (publication date: March 1994)

The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD

scientific article

The organization of a nuclear DNA sequence from a higher plant: Molecular cloning and characterization of soybean ribosomal DNA ⬇️

scientific article published on November 1, 1979

The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10

scientific article published on 01 January 1988

The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.

scientific article

The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor

scientific article

The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC.

scientific article published in September 1994

The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.

scientific article

The search for the genetic defects in Huntington's disease and familial Alzheimer's disease

scientific article published on January 1, 1991

The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.

scientific article

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

scientific article published on 6 January 2007

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

scientific article

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

scientific article

Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.

scientific article published on August 1991

Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.

scientific article

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

scientific article

Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei

scientific article

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

scientific article

Trinucleotide instability: a repeating theme in human inherited disorders

scientific article published on January 1996

Trinucleotide repeat length and progression of illness in Huntington's disease

scientific article

Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1)

scientific article published on November 1, 1992

Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism

scientific article

Universal absence of merlin, but not other ERM family members, in schwannomas ⬇️

scientific article published on December 1, 1997

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

scientific article published in November 1984

Valuable libraries

scientific article published in Nature

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

scholarly article

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

scientific article

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.

scientific article published on 14 July 2017

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

dtorsin, the Drosophila Ortholog of the Early-Onset Dystonia TOR1A (DYT1), Plays a Novel Role in Dopamine Metabolism ⬇️

scientific article published on October 12, 2011

miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement

scientific article

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