4.7 Article

Relative frequency of inherited retinal dystrophies in Brazil

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Ophthalmology

Non-syndromic retinitis pigmentosa

Sanne K. Verbakel et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2018)

Review Pediatrics

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics

John D. Gettelfinger et al.

JOURNAL OF PEDIATRIC GENETICS (2018)

Review Genetics & Heredity

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

Razek Georges Coussa et al.

OPHTHALMIC GENETICS (2017)

Article Genetics & Heredity

PROM1 gene variations in Brazilian patients with macular dystrophy

Mariana Vallim Salles et al.

OPHTHALMIC GENETICS (2017)

Review Ophthalmology

Unravelling the genetics of inherited retinal dystrophies: Past, present and future

Suzanne Broadgate et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2017)

Article Ophthalmology

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation

Mariana Vallim Salles et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2017)

Review Pediatrics

Epidemiology of blindness in children

Ameenat Lola Solebo et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2017)

Article Biochemistry & Molecular Biology

Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients

H. Bardak et al.

GENETICS AND MOLECULAR RESEARCH (2016)

Review Pathology

Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy

John (Pei-Wen) Chiang et al.

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2015)

Article Biochemistry & Molecular Biology

Inherited Retinal Dystrophies: The role of gene expression regulators

Marianthi Karali et al.

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2015)

Article Biotechnology & Applied Microbiology

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Firdous Abdulwahab et al.

GENOME BIOLOGY (2015)

Article Genetics & Heredity

CRB1 Mutations in Inherited Retinal Dystrophies

Kinga Bujakowska et al.

HUMAN MUTATION (2012)

Article Multidisciplinary Sciences

Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids

Martin-Paul Agbaga et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Review Medicine, General & Internal

Retinitis pigmentosa

Dyonne T. Hartong et al.

LANCET (2006)

Article Genetics & Heredity

Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis

Anneke I. den Hollander et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Otorhinolaryngology

Changes in the aetiology of hearing impairment in deaf-blind pupils and deaf infant pupils at an institute for the deaf

RJC Admiraal et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2000)

Article Genetics & Heredity

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

R Vervoort et al.

NATURE GENETICS (2000)