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List of works by Richard A Spritz

"Out, damned spot!"

scientific article published on 01 May 2006

A Melanoma Brain Metastasis with a Donor-Patient Hybrid Genome following Bone Marrow Transplantation: First Evidence for Fusion in Human Cancer

scientific article

A Romanian population isolate with high frequency of vitiligo and associated autoimmune diseases

scientific article published on 01 March 2008

A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12

scientific article

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients

scientific article

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism

scientific article

A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13

scientific article

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

scientific article

A genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci

scientific article

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism ⬇️

scientific article published on July 1, 1991

A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity ⬇️

scientific article published on May 1, 1991

A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism ⬇️

scientific article published on 01 September 1993

A study in scarlet ⬇️

scientific article published on 01 November 1995

A survey of protein tyrosine kinase mRNAs expressed in normal human melanocytes

scientific article (publication date: December 1993)

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse

scientific article

Accounting for eXentricities: analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases

scientific article

Alternative splicing of SV40 early pre-mRNA in vitro

scientific article

Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort

scientific article published on 01 October 2011

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome

scientific article published on 01 February 2002

Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent

scientific article published on 10 January 2013

Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of HLA-A*02:01 in vivo

scientific article published on 19 January 2016

Automated syndrome diagnosis by three-dimensional facial imaging

scientific article published on 01 June 2020

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.

scientific article

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

scientific article

Base substitution in an intervening sequence of a beta+-thalassemic human globin gene

scientific article

Biomedical discovery acceleration, with applications to craniofacial development

scientific article published in March 2009

Body size and allometric variation in facial shape in children

scientific article published on 27 November 2017

CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data

scientific article

Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo.

scientific article published in August 2005

Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus

scientific article published in June 2001

Cloning specific complete polyadenylylated 3'-terminal cDNA segments

scientific article

Common variants in FOXP1 are associated with generalized vitiligo.

scientific article

Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences

scientific article published on January 1997

Complete nucleotide sequence of the human delta-globin gene

scientific article published in October 1980

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type

scientific article

Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.

scientific article

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

scientific article

Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk ⬇️

scientific article published on 01 October 2019

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

scientific article published on 01 April 1995

Deep genotype imputation captures virtually all heritability of autoimmune vitiligo

scientific article published on 01 March 2020

Deletion analysis of the human gamma-globin IVS2: sequence requirements for RNA splicing

scientific article published on 01 January 1985

Deletion of the KIT and PDGFRA genes in a patient with piebaldism ⬇️

scientific article (publication date: November 1992)

Deletion of the SLUG (SNAI2) gene results in human piebaldism

scientific article (publication date: October 2003)

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism

scientific article published on 01 June 1990

Development Shapes a Consistent Inbreeding Effect in Mouse Crania of Different Line Crosses

scientific article published on 18 January 2017

Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation

scientific article published on 15 January 2013

Direct, sequence-specific binding of the human U1-70K ribonucleoprotein antigen protein to loop I of U1 small nuclear RNA.

scientific article published on October 1989

Distribution of orofacial clefts and frequent occurrence of an unusual cleft variant in the Rift Valley of Kenya

scientific article published on 01 July 2007

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

scientific article (publication date: November 1994)

Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome?

scientific article published on 25 September 2020

Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism ⬇️

scientific article published on February 1, 1992

Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene

scientific article published on December 1982

Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation

scientific article published on 01 December 2001

Duplication/deletion polymorphism 5′- to the human β globin gene ⬇️

scientific article published on October 10, 1981

Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo

scientific article published on 01 August 2005

Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression

scientific article published in Nature Communications

Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families

scientific article published on 01 June 2003

FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research

scientific article published on 21 September 2020

Facial morphometrics of children with non-syndromic orofacial clefts in Tanzania

scientific article

Facial shape manifestations of growth faltering in Tanzanian children.

scientific article published on 28 November 2017

False-negative A.F.P. screen for congenital nephrosis Finnish type ⬇️

scientific article published on 01 December 1978

Familial radioulnar synostosis ⬇️

scientific article published on April 1, 1978

Family Clustering of Autoimmune Vitiligo Results Principally from Polygenic Inheritance of Common Risk Alleles

scientific article published on 18 July 2019

Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1).

scientific article

Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene)

scientific article published on 01 April 1993

Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)

scientific article

Frontiers and controversies in the pathobiology of vitiligo: separating the wheat from the chaff

scientific article

Frontiers in Pigment Cell and Melanoma Research

Frontiers in pigment cell and melanoma research

scientific article published on 03 October 2018

Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images

scientific article published on 03 June 2020

Gene dosage effect: intraband mapping of human soluble glutamic oxaloacetic transaminase ⬇️

scientific article published on January 1, 1979

Genetic defects in Chediak-Higashi syndrome and the beige mouse

scientific article published on March 1998

Genetic disorders of pigmentation

scientific article published on 01 January 1994

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry

scientific article published on 22 July 2015

Genetic structure of phenotypic robustness in the collaborative cross mouse diallel panel.

scientific article published on 28 May 2016

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico

scientific article

Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population

scientific article published on 19 July 2007

Genetics of Vitiligo

scientific article

Genetics of murine craniofacial morphology: diallel analysis of the eight founders of the Collaborative Cross

scientific article

Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations

scientific article published on 19 August 2021

Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology

scientific article

Genome-Wide Association of PVT1 with Vitiligo

scientific article published on 02 March 2018

Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset

scientific article

Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo

scientific journal article

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants

scientific article published on 10 October 2016

Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8

scientific journal article

Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape.

scientific article

Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus

scientific article

Globin mRNA metabolism and gene structure in beta +-thalassemia

scientific article published on 01 January 1982

HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset

scientific article published on 01 February 2006

HPS gene mutations in Hermansky-Pudlak syndrome

scientific article published in February 1999

Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia

scientific article

Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium

scientific article

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

scientific article

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

scientific article

High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein

scientific article published on 01 October 2005

Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)

scientific article published in September 1996

Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing

scientific article published on 28 September 2016

Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism

scientific article

Human Facial Shape and Size Heritability and Genetic Correlations

scientific article published on 14 December 2016

Human U1-70K ribonucleoprotein antigen gene: organization, nucleotide sequence, and mapping to locus 19q13.3.

scientific article

Human and mouse disorders of pigmentation

scientific article

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele

scientific article published on 01 July 1997

I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector

scientific article published on January 4, 1979

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

scientific article published on November 1996

In vitro splicing pathways of pre-mRNAs containing multiple intervening sequences?

scientific article published on October 1987

Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: implications for human piebaldism and mouse dominant white spotting (W)

scientific article published on 01 August 1994

Lack of apparent hematologic abnormalities in human patients with c-kit (stem cell factor receptor) gene mutations ⬇️

scientific article published on 01 May 1992

Lack of head sparing following third-trimester caloric restriction among Tanzanian Maasai

scientific article published on 23 September 2020

Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia ⬇️

scientific article published on 01 June 1993

Let's face it--complex traits are just not that simple

scientific article

Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism

scientific article published on 15 November 2011

Leveraging existing biological knowledge in the identification of candidate genes for facial dysmorphology

scientific article

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.

scientific article

Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.

scientific article

Loop I of U1 small nuclear RNA is the only essential RNA sequence for binding of specific U1 small nuclear ribonucleoprotein particle proteins

scientific article published on November 1988

Loss of expression of receptor tyrosine kinase family genes PTK7 and SEK in metastatic melanoma

scientific article published on 01 June 1997

MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo

scientific article

Major association of vitiligo with HLA-A*02:01 in Japanese

scientific article

Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2.

scientific article published on 01 March 2002

Medical Genetics

Metal ligand-binding specificities of the tyrosinase-related proteins

scientific article published in January 1998

Modern vitiligo genetics sheds new light on an ancient disease

scientific article

Molecular basis of human piebaldism

scientific article

Molecular genetics of oculocutaneous albinism

scientific article published on January 1994

Molecular genetics of oculocutaneous albinism

scientific article published on 01 September 1993

Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes

scientific article published on 01 January 1998

Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

scientific article published on 01 April 2004

Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron

scientific article published in May 1997

Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast

scientific article

Multi-organellar disorders of pigmentation: tied up in traffic

scientific article

Multiple Functional Variants of IFIH1, a Gene Involved in Triggering Innate Immune Responses, Protect against Vitiligo

scientific article published on 5 October 2016

Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method

scientific article published on 23 April 2016

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity

scientific article

Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate

scientific article

Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate ⬇️

scientific article

Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela

scientific article (publication date: October 2001)

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism ⬇️

scientific article published on October 1, 1991

Mutational Analysis of Copper Binding by Human Tyrosinase ⬇️

scientific article published on August 1, 1997

Mutational mapping of the catalytic activities of human tyrosinase ⬇️

scientific article published on November 25, 1992

Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein ⬇️

scientific article published on July 1, 1997

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

scientific article

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism

scientific article

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

scientific article

Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)

scientific article

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel

scientific article published in April 1994

NALP1 in vitiligo-associated multiple autoimmune disease

scientific article

NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome

scientific article published on 4 February 2013

NLRP1 promotes tumor growth by enhancing inflammasome activation and suppressing apoptosis in metastatic melanoma.

scientific article published on 6 March 2017

Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation

scientific article published on 01 December 1982

Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation

scientific article

Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome.

scientific article

Novel Mutations of the KIT (Mast/Stem Cell Growth Factor Receptor) Proto-Oncogene in Human Piebaldism ⬇️

scientific article published on 01 July 1993

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

scientific article published on January 1, 1997

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

scientific article published on 01 January 1997

Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis

scientific article

Nucleotide sequence of a bean (Phaseolus vulgaris) U1 small nuclear RNA gene: implications for plant pre-mRNA splicing

scientific article

Nucleotide sequence, evolution, and expression of the fetal globin gene of the spider monkey Ateles geoffroyi

scientific article (publication date: October 1985)

Nucleotide sequences of two soybean U1 snRNA genes

scientific article published on May 1988

Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene

scientific article

Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene

scientific article (publication date: November 1992)

Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment

scientific article

Organization and sequence of the human P gene and identification of a new family of transport proteins

scientific article

PTK1, a novel protein kinase required for proliferation of human melanocytes.

scientific article

PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not.

scientific article

Pediatric to Adult Shift in Vitiligo Onset Suggests Altered Environmental Triggering

scientific article published on 28 June 2019

Piebaldism and neurofibromatosis type 1: horses of very different colors.

scientific article

Piebaldism with deafness: molecular evidence for an expanded syndrome

scientific article published in January 1998

Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development

scientific article (publication date: March 1997)

Polymerase chain reaction detection of a novel human KIT (mast/stem cell growth factor receptor) gene polymorphism by single-strand conformation polymorphism analysis or by SmaI or BstNI cleavage ⬇️

scientific article published on 01 September 1993

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

scientific article

Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism

scientific article published on 01 April 1997

RFLP for BgIII at the human tyrosinase (TYR) locus

scientific article published in June 1990

RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.

scientific article published in May 1990

RFLP for TaqI at the human tyrosinase locus

scientific article published on October 1988

RNA Splice Site Selection: Evidence for a 5′ → 3′ Scanning Model ⬇️

scientific article published on June 24, 1983

Rapid automated landmarking for morphometric analysis of three-dimensional facial scans.

scientific article published on 12 January 2017

Recent progress in the genetics of generalized vitiligo

scientific article

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix

scientific article published on 13 December 2016

Recognition of potential splice sites on the human G gamma-globin mRNA precursor

scientific article published on 01 January 1983

Reply to Fleischman

scientific article published in September 1992

Revised classification/nomenclature of vitiligo and related issues: the Vitiligo Global Issues Consensus Conference

scientific article

Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B)

scientific article published on 15 January 2013

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

scientific journal article

SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype

scientific article

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

scientific article published in December 2017

Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease

scientific article

Side population cells from human melanoma tumors reveal diverse mechanisms for chemoresistance

scientific article

Simian virus 40 as a eukaryotic cloning vehicle

scientific article published on January 1981

Site-directed mutagenesis using a double-stranded DNA fragment as a PCR primer

scientific article published on August 1990

Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis

scientific article published on 13 October 2011

Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells

scientific article

Spatial and temporal analysis of gene expression during growth and fusion of the mouse facial prominences

scientific article

Splicing of plant pre-mRN As in animal systems and vice versa

article

Systems biology of facial development: contributions of ectoderm and mesenchyme

scientific article published on 28 March 2017

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism

scientific article published in March 1991

Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage.

scientific article

The FaceBase Consortium: a comprehensive program to facilitate craniofacial research

scientific article

The FaceBase Consortium: a comprehensive resource for craniofacial researchers

scientific article published on 10 June 2016

The Genetic Basis of Vitiligo

scientific article published on 08 August 2020

The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes

scientific article

The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles

scientific article

The Molecular Basis of Human Piebaldism ⬇️

scientific article published on November 1, 1992

The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population

scientific article published on April 2008

The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules

scientific article published on 24 October 2006

The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela.

scientific article published in May 2009

The familial histiocytoses

scientific article

The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene

scientific journal article

The genetic architecture of vitiligo

scientific article published on 04 December 2019

The genetics and epigenetics of orofacial clefts

scientific article

The genetics of generalized vitiligo

scientific article published on January 2008

The genetics of generalized vitiligo and associated autoimmune diseases

scientific article

The genetics of generalized vitiligo and associated autoimmune diseases

scientific article published on 01 August 2007

The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma ⬇️

scientific article published on October 19, 2010

The genetics of vitiligo

scientific article

The human RD protein is closely related to nuclear RNA-binding proteins and has been highly conserved

scientific article

The human TYRO3 gene and pseudogene are located in chromosome 15q14-q25

scientific article

The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding

scientific article

The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation

scientific article

The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism

scientific article published on January 1, 1992

The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation

scientific article

The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain

scientific journal article

The structure and evolution of the human beta-globin gene family

scientific article (publication date: October 1980)

The structure and evolution of the spider monkey delta-globin gene

scientific article published in January 1988

The thalassemias: molecular mechanisms of human genetic disease.

scientific article

The triennial International Pigment Cell Conference (IPCC)

scientific article

The two intervening sequences of human beta- and gamma-globin pre-mRNAs are excised in a preferred temporal order in vitro

scientific article

Three new mutations in a gene causing Hermansky-Pudlak syndrome

scientific article published on 01 November 1998

Two cloned β thalassemia genes are associated with amber mutations at codon 39 ⬇️

scientific article published on December 21, 1981

Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene

scientific article published on 01 May 1996

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism

scientific article

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions

scientific article published on 01 July 1992

Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo

scientific article

Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE

scientific article published on 01 October 2007

mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence

scientific article

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