A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
about
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsNitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinismOculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.Delineating the genetic heterogeneity of OCA in Hungarian patients.Relationship between foveal cone specialization and pit morphology in albinismSignaling pathways in melanosome biogenesis and pathologyMolecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traitsEvidence for hitchhiking of deleterious mutations within the human genome.Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1)Skin cancers among Albinos at a University teaching hospital in Northwestern Tanzania: a retrospective review of 64 cases.Increasing the complexity: new genes and new types of albinism.An intracellular anion channel critical for pigmentation.Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.Molecular and clinical characterization of albinism in a large cohort of Italian patients.Clinical utility gene card for: Oculocutaneous albinism.A Comparative Transcriptome Analysis between Wild and Albino Yellow Catfish (Pelteobagrus fulvidraco).Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.Clinical Insights Into Foveal Morphology in AlbinismAlbinism: particular attention to the ocular motor system.Digenic inheritance in medical geneticsA new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.Albinism in Europe.Exome sequencing explained: a practical guide to its clinical application.Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).Tyrosinase gene mutations in the Chinese Han population with OCA1.Understanding mutational effects in digenic diseasesStructure of Human Tyrosinase Related Protein 1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis.Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence.FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations.NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.
P2860
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P2860
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A comprehensive genetic study ...... lbinism in Caucasian patients.
@ast
A comprehensive genetic study ...... lbinism in Caucasian patients.
@en
A comprehensive genetic study ...... lbinism in Caucasian patients.
@nl
type
label
A comprehensive genetic study ...... lbinism in Caucasian patients.
@ast
A comprehensive genetic study ...... lbinism in Caucasian patients.
@en
A comprehensive genetic study ...... lbinism in Caucasian patients.
@nl
prefLabel
A comprehensive genetic study ...... lbinism in Caucasian patients.
@ast
A comprehensive genetic study ...... lbinism in Caucasian patients.
@en
A comprehensive genetic study ...... lbinism in Caucasian patients.
@nl
P356
P1476
A comprehensive genetic study ...... lbinism in Caucasian patients.
@en
P2093
Richard A Spritz
Saunie M Hutton
P304
P356
10.1167/IOVS.07-0791
P407
P577
2008-03-01T00:00:00Z