List of works - Zeynep Tumer

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome.

scientific article published on 14 May 2015

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

scientific article

4q35 deletion and 10p15 duplication associated with immunodeficiency

scientific article published on 01 October 2006

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

scientific article published on 9 January 2008

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

scientific article

A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequences

scientific article published on 01 December 2009

A germline chromothripsis event stably segregating in 11 individuals through three generations.

scientific article

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

scientific article

A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis.

scientific article published on 28 January 2011

A human phenome-interactome network of protein complexes implicated in genetic disorders

scientific article (publication date: March 2007)

A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature

scientific article published on 31 March 2015

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

scientific article published on 24 November 2016

A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS ⬇️

scientific article published on August 26, 2011

A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD.

scientific article published on 30 December 2014

A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance

scientific article published on 18 January 2015

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

scientific article published in October 2006

Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization

scientific article published on June 2012

An association study between the norepinephrine transporter gene and depression.

scientific article published in October 2013

An excess of chromosome 1 breakpoints in male infertility

article

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.

scientific article published on March 2013

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice

scientific article published on 01 July 1994

Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric alpha-satellite sequences

scientific article published on 01 March 1995

Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder

scientific article published on 23 July 2014

Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33-->q23.

scientific article

Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes

scientific journal article

Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation

scientific article (publication date: 2000)

Association Study of CHRNA7 Promoter Variants with Sensory and Sensorimotor Gating in Schizophrenia Patients and Healthy Controls: A Danish Case-Control Study

scientific article published on 16 September 2015

Association study between CDH2 and Gilles de la Tourette syndrome in a Danish cohort.

scientific article published on 19 May 2015

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

scientific article

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.

scientific article published on 20 February 2008

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans

scientific article

Breakpoints around the HOXD cluster result in various limb malformations.

scientific article published on 24 June 2005

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

scientific article published on 4 November 2016

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.

scientific article published on 23 June 2015

Centrifugally driven microfluidic disc for detection of chromosomal translocations.

scientific article published in November 2012

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.

scientific article

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

scientific article

Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.

scientific article published on 29 August 2013

Clinical expression of Menkes disease in females with normal karyotype.

scientific article published on 22 January 2012

Clinical utility gene card for: Axenfeld-Rieger syndrome.

scientific article published on 13 October 2010

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature

scientific article published on 10 October 2017

Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

scientific article published on 30 September 2011

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

scientific article published on 23 August 2016

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

scientific article

Cornelia de Lange syndrome

article

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

scientific article published on 10 September 2007

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

scientific article published on 12 April 2012

Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

scientific article published on 8 July 2015

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

scientific article published on 01 December 2010

Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

scientific article published on 11 January 2012

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

scientific article published on 28 January 2011

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

scientific article published on 31 March 2018

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

scientific article published on 01 March 2006

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

scientific article published on 01 January 2005

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

scientific article published on 19 March 2020

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

scientific article published on 01 January 1994

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

scientific article published on 01 October 2018

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

scientific article

Diploid/triploid mosaicism: a rare event or an under-diagnosed syndrome?

scientific article published on 18 January 2011

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

scientific article

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

scientific article published on 11 May 2016

Early copper-histidine treatment for Menkes disease

scientific article published on 01 January 1996

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients

scientific article published on 01 March 1998

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

scientific article

Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome

scientific article published on 01 June 2005

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

scientific article published on 7 March 2016

Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters.

scientific article published on 2 March 2017

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

scientific article

Expression, purification and copper-binding studies of the first metal-binding domain of Menkes protein.

scientific article

Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

scientific article published on 13 December 2015

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

scientific article published on 11 October 2007

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

scientific article

GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.

scientific article published on May 2008

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

scientific article published on 04 November 2019

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

scientific article published on 10 August 2018

Genetic anticipation in Behçet's syndrome

scientific article published on January 1998

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

scientific article

Genome-wide gene expression profiling of SCID mice with T-cell-mediated Colitis.

scientific article published on 26 February 2009

Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2)

article

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

scientific article

Haploinsufficiency of TAB2 causes congenital heart defects in humans

scientific article

Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro.

scientific article published on 17 April 2006

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

scientific article published on 23 September 2011

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

scientific article published on 19 August 2008

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

article

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

scientific article

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

scientific article published on 01 August 2005

Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.

scientific article published in January 2004

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

scientific article

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

scientific article published on 01 January 2004

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

scientific article published on 01 January 2011

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.

scientific article published on 16 October 2007

Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.

scientific article

Investigation of 4q-deletion in two unrelated patients using array CGH.

scientific article published in September 2008

Investigation of SNP rs2060546 Immediately Upstream to NTN4 in a Danish Gilles de la Tourette Syndrome Cohort

scientific article

Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?

scientific article published on 7 June 2015

Lethal neonatal Menkes' disease with severe vasculopathy and fractures

scientific article published on 01 December 1998

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.

scientific article

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

scientific article published on 01 March 1992

Menkes disease

scientific article published on 04 November 2009

Menkes disease: an X-linked neurological disorder of the copper metabolism

scientific article published on October 1, 1992

Menkes disease: recent advances and new insights into copper metabolism.

scientific article

Menkes disease: underlying genetic defect and new diagnostic possibilities

scientific article published on 01 August 1998

Metaphase FISH on a chip: miniaturized microfluidic device for fluorescence in situ hybridization

scientific article published on 2 November 2010

Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.

scientific article published on 29 January 2014

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

scientific article published on 23 May 2015

Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.

scientific article published on 27 July 2013

Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24

scientific article published on 01 August 2009

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

scientific article published in November 2004

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

scientific article published on 01 January 1999

Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis.

scientific article published on 16 June 2016

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.

scientific article published on 13 April 2014

Mowat-Wilson syndrome: an underdiagnosed syndrome?

scientific article published on 28 April 2008

Not para-, not peri-, but centric inversion of chromosome 12.

scientific article

Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

scientific article published on 27 July 2012

Phenotypes and genotypes in individuals with SMC1A variants.

scientific article published on 26 May 2017

Prenatal diagnosis of Menkes disease ⬇️

scientific article published on March 1, 1998

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

scientific article published on 28 October 2015

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

scientific article published on 4 February 2016

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

scientific article published on 10 December 2020

Recent Advances in Imprinting Disorders.

scientific article published on July 2016

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.

scientific article published on 02 December 2016

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

scientific article published on 25 February 2015

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

scientific article published on 18 September 2014

Response to Dylan Mordaunt and Alisha McLauchlan

scientific article published on 19 April 2015

Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature

article

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.

scientific article published on 22 January 2013

Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.

scientific article published in July 2014

Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.

scientific article published in January 2006

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

scientific article published on 25 July 2013

Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature.

scientific article published on June 2013

Sequencing and mapping of the porcine CCS gene.

scientific article

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome

scientific article

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

scientific article

Splice site mutations in the ATP7A gene.

scientific article published on 11 April 2011

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

scientific article published on 13 August 2020

Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.

scientific article

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

scientific article

TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

scientific article published on 23 August 2016

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.

scientific article

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

scientific article published on 8 April 2016

The genetic basis of epilepsy. The Danish Epilepsy Society

scientific article published in March 2007

The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.

scientific article published on 28 August 2007

Three new loci for determining x chromosome inactivation patterns.

scientific article

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up

scientific article published on 12 November 2012

Transient p53 suppression increases reprogramming of human fibroblasts without affecting apoptosis and DNA damage

scientific article

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

scientific article

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

scientific article published on 03 November 2011

X-linked Menkes disease: first documented report of germ-line mosaicism.

scientific article

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

scientific article published on 11 December 2013

X-linked recessive Menkes disease: identification of partial gene deletions in affected males.

scientific article

X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization.

scientific article published in October 1994

[The genetic background for the eye malformations anophthalmia and microphthalmia]

scientific article published on 01 March 2012

[The genetics of Gilles de la Tourette syndrome]

scientific article published on 01 February 2012

upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

scientific article published on 22 February 2020

List of works by Zeynep Tumer

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome.

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

4q35 deletion and 10p15 duplication associated with immunodeficiency

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequences

A germline chromothripsis event stably segregating in 11 individuals through three generations.

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis.

A human phenome-interactome network of protein complexes implicated in genetic disorders

A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS ⬇️

A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD.

A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization

An association study between the norepinephrine transporter gene and depression.

An excess of chromosome 1 breakpoints in male infertility

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice

Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric alpha-satellite sequences

Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder

Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33-->q23.

Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes

Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation

Association Study of CHRNA7 Promoter Variants with Sensory and Sensorimotor Gating in Schizophrenia Patients and Healthy Controls: A Danish Case-Control Study

Association study between CDH2 and Gilles de la Tourette syndrome in a Danish cohort.

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans

Breakpoints around the HOXD cluster result in various limb malformations.

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.

Centrifugally driven microfluidic disc for detection of chromosomal translocations.

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.

Clinical expression of Menkes disease in females with normal karyotype.

Clinical utility gene card for: Axenfeld-Rieger syndrome.

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature

Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

Cornelia de Lange syndrome

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Diploid/triploid mosaicism: a rare event or an under-diagnosed syndrome?

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Early copper-histidine treatment for Menkes disease

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

Expression, purification and copper-binding studies of the first metal-binding domain of Menkes protein.

Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

Genetic anticipation in Behçet's syndrome

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

Genome-wide gene expression profiling of SCID mice with T-cell-mediated Colitis.

Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2)