Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetic variation in regulatory DNA elements: the case ofOCA2transcriptional regulation

(2014) Mijke Visser et al.   Pigment Cell & Melanoma Research

Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

(2013) Karen Grønskov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Computational Screening of Disease-Associated Mutations in OCA2 Gene

(2013) Balu Kamaraj et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

(2013) Dimitre R. Simeonov et al.   HUMAN MUTATION

Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism

(2013) Ai-Hua Wei et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Increasing the complexity: new genes and new types of albinism

(2013) Lluís Montoliu et al.   Pigment Cell & Melanoma Research

In SilicoScreening and Molecular Dynamics Simulation of Disease-Associated nsSNP in TYRP1 Gene and Its Structural Consequences in OCA3

(2013) Balu Kamaraj et al.   Biomed Research International

OCA5,a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24

(2012) T Kausar et al.   CLINICAL GENETICS

Mutational analysis of TYR gene and its structural consequences in OCA1A

(2012) Balu K et al.   GENE

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

(2012) Thomas J Jaworek et al.   Orphanet Journal of Rare Diseases

Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis

(2012) Ai-Hua Wei et al.   Pigment Cell & Melanoma Research

Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients

(2011) Kai-hui Zhang et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

Case report: a black and white twin

(2010) M J Claas et al.   Journal of Perinatology

A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism

(2009) Aihua Wei et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Is There a Significant Trend in Prevalence of Consanguineous Marriage in Tehran? A Review of Three Generations

(2008) Seyed Mohammad Akrami et al.   Journal of Genetic Counseling

Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type

(2008) Saunie M. Hutton et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

(2008) Caroline Rooryck et al.   Pigment Cell & Melanoma Research