Molecular characterization of a series of 990 index patients with albinism

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

(2017) Mervyn G Thomas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS

(2017) Vincent Michaud et al.   Pigment Cell & Melanoma Research

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

(2017) Chelsea S. Norman et al.   Scientific Reports

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

(2016) S. Ammann et al.   BLOOD

Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula

(2016) A. O. Khan et al.   CLINICAL GENETICS

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

(2016) Faravareh Khordadpoor-Deilamani et al.   JOURNAL OF HUMAN GENETICS

Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene

(2015) Michael Philip Hood et al.   DOCUMENTA OPHTHALMOLOGICA

WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations

(2015) Alessandro Liquori et al.   HUMAN MUTATION

Albinism in a patient with mutations at both the OA1 and OCA3 loci

(2015) Fanny Morice-Picard et al.   Pigment Cell & Melanoma Research

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana

(2015) Antoine Bertolotti et al.   Pigment Cell & Melanoma Research

Molecular analysis of common polymorphisms within the humanTyrosinaselocus and genetic association with pigmentation traits

(2014) Kasturee Jagirdar et al.   Pigment Cell & Melanoma Research

Do you have to be albino to be albino?

(2014) Lluis Montoliu et al.   Pigment Cell & Melanoma Research

Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

(2014) Vadieh Ghodsinejad Kalahroudi et al.   PLoS One

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

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

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

(2013) James A. Poulter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

(2013) Yonatan Perez et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism

(2013) Fanny Morice-Picard et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of theTYR, OCA2, andSLC45A2genes and a complex rearrangement of theOCA2gene

(2013) Fanny Morice-Picard et al.   Pigment Cell & Melanoma Research

Increasing the complexity: new genes and new types of albinism

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

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

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

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism

(2009) William S. Oetting et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision

(2009) Anup Kubal et al.   JOURNAL OF AAPOS

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