Cargando…

Molecular Genetic Analysis of the Autosomal Recessive Non-Syndromic Inherited Retinitis Pigmentosa

Introduction: 90% of visually impaired people live in developing countries. There are various types of vision impairment, but the focus of the current study is retinitis pigmentosa (RP). Up to now, 150 mutations have been reported that are linked with RP. Methodology: Healthy and affected members fr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Habib, Faiza, Yasin, Muhammad, ., Namal, ., Shaheryar, Nasir, Areej, Hussain, Abrar, Ndubuisi, Chinonso, Azam, Hiba, Sajid, Muhammad, Rasheed, Arsalan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10200129/ https://www.ncbi.nlm.nih.gov/pubmed/37267051 http://dx.doi.org/10.7759/cureus.37933

Ejemplares similares

Autosomal Recessive Inheritance: Cystic Fibrosis
por: Goldstein, D. Yitzchak, et al.
Publicado: (2017)

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa
por: Azam, Maleeha, et al.
Publicado: (2009)

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
por: Arno, Gavin, et al.
Publicado: (2016)

The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis
por: Majumder, Poulami, et al.
Publicado: (2013)

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
por: Li, Lin, et al.
Publicado: (2018)

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
por: Barragán, Isabel, et al.
Publicado: (2010)

SLC7A14 linked to autosomal recessive retinitis pigmentosa
por: Jin, Zi-Bing, et al.
Publicado: (2014)

A Large Animal Model for CNGB1 Autosomal Recessive Retinitis Pigmentosa
por: Winkler, Paige A., et al.
Publicado: (2013)

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
por: Bocquet, Béatrice, et al.
Publicado: (2013)

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice
por: van Huet, Ramon A. C., et al.
Publicado: (2015)

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa
por: Ali, Shahbaz, et al.
Publicado: (2011)

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes
por: Rosenberg, Leon E.
Publicado: (1972)

Mendelian Inheritance in Man, Catalogues of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes
por: Seashore, Margretta R.
Publicado: (1979)

Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families
por: Babar, Masroor Ellahi, et al.
Publicado: (2022)

Mutation of SPATA7 in a family with autosomal recessive early-onset retinitis pigmentosa
por: Kannabiran, Chitra, et al.
Publicado: (2012)

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
por: Perez-Carro, Raquel, et al.
Publicado: (2016)

Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus
por: Barrett, Matthew J., et al.
Publicado: (2017)

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
por: Liaqat, Khurram, et al.
Publicado: (2019)

Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
por: Sweeney, Meredith O., et al.
Publicado: (2007)

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing
por: González-del Pozo, María, et al.
Publicado: (2011)

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families
por: Srilekha, Sundaramurthy, et al.
Publicado: (2015)

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
por: Perez-Carro, Raquel, et al.
Publicado: (2016)

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
por: Fiorentino, Alessia, et al.
Publicado: (2018)

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa
por: Takahashi, Vitor K. L., et al.
Publicado: (2019)

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population
por: Zhang, Lujia, et al.
Publicado: (2021)

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa
por: Khan, Muhammad Imran, et al.
Publicado: (2010)

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
por: Liaqat, Khurram, et al.
Publicado: (2021)

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions
por: Naz, Arshi, et al.
Publicado: (2017)

Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
por: Morovvati, Saeid, et al.
Publicado: (2012)

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
por: Thongpradit, Supranee, et al.
Publicado: (2020)

Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report
por: Ibrahim, Rahaf, et al.
Publicado: (2021)

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. 9th Edition
por: Seashore, Margretta R.
Publicado: (1991)

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. 7th Edition
por: Seashore, Margretta R.
Publicado: (1987)

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa
por: Corton, M., et al.
Publicado: (2016)

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa
por: Xiao, Xiaoqiang, et al.
Publicado: (2019)

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression
por: McGuigan, David B., et al.
Publicado: (2017)

Mutation of ATF6 causes autosomal recessive achromatopsia
por: Ansar, Muhammad, et al.
Publicado: (2015)

Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report
por: Yoshida, Rui, et al.
Publicado: (2014)

Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population
por: Hosono, Katsuhiro, et al.
Publicado: (2012)

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
por: Huang, Yukan, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_bjgjr37evk1hiqm3c1qklsjud5