4.6 Article

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Analysis of genotype-phenotype correlations in PAX6-associated aniridia

Tatyana A. Vasilyeva et al.

Summary: In this study, researchers identified various genetic causes of congenital aniridia and found statistically significant genotype-phenotype correlations. Patients with 3'-cis-regulatory region deletions had a milder phenotype, while missense mutations and splicing disruptions were associated with a severe form of aniridia. Additionally, the severity of aniridia was found to worsen with age, particularly in patients with keratopathy, cataract, and glaucoma.

JOURNAL OF MEDICAL GENETICS (2021)

Article Biochemistry & Molecular Biology

Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel

Abhiraami Kannan-Sundhari et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS (2020)

Article Medical Laboratory Technology

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing

Fatemeh Bitarafan et al.

JOURNAL OF CLINICAL LABORATORY ANALYSIS (2020)

Article Genetics & Heredity

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort

Amjad Khan et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2019)

Article Otorhinolaryngology

A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing

Samira Asgharzade et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2018)

Article Genetics & Heredity

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features

Ekaterina R. Lozier et al.

JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

Diversity and Prevalence of Hereditary Diseases among Nogais of the Karachay-Cherkess Republic

R. A. Zinchenko et al.

RUSSIAN JOURNAL OF GENETICS (2018)

Article Medicine, General & Internal

Congenital hearing loss

Anna M. H. Korver et al.

NATURE REVIEWS DISEASE PRIMERS (2017)

Article Genetics & Heredity

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

Fatima Ammar-Khodja et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2015)

Review Medicine, Research & Experimental

GJB2-Associated Hearing Loss: Systematic Review of Worldwide Prevalence, Genotype, and Auditory Phenotype

Dylan K. Chan et al.

LARYNGOSCOPE (2014)

Article Multidisciplinary Sciences

Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

Asli Sirmaci et al.

PLOS ONE (2012)

Article Genetics & Heredity

Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes

A. A. Stepanova et al.

RUSSIAN JOURNAL OF GENETICS (2012)

Article Genetics & Heredity

Hereditary deafness in Kirov oblast: Estimation of the incidence rate and DNA diagnosis in children

R. A. Zinchenko et al.

RUSSIAN JOURNAL OF GENETICS (2012)

Article Multidisciplinary Sciences

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Nikoletta Charizopoulou et al.

NATURE COMMUNICATIONS (2011)

Article Genetics & Heredity

Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia

Lilya U. Dzhemileva et al.

JOURNAL OF HUMAN GENETICS (2010)

Article Biochemistry & Molecular Biology

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

Elena A. Bliznetz et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2009)

Article Genetics & Heredity

Prevalences of hereditary diseases in different populations of Russia

R. A. Zinchenko et al.

RUSSIAN JOURNAL OF GENETICS (2007)

Article Multidisciplinary Sciences

Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH

Anastasiya Kazantseva et al.

SCIENCE (2006)

Review Genetics & Heredity

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review

A Kenneson et al.

GENETICS IN MEDICINE (2002)

Review Medicine, General & Internal

Advances in hereditary deafness

M Tekin et al.

LANCET (2001)