Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature
AV Marco Hernández, M Tomás Vila… - Frontiers in …, 2021 - frontiersin.org
Dominant pathogenic variations in the SCN1A gene are associated with several neuro
developmental disorders with or without epilepsy, including Dravet syndrome (DS) …
developmental disorders with or without epilepsy, including Dravet syndrome (DS) …
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss
C Beck, JC Pérez-Álvarez, A Sigruener… - European Archives of …, 2015 - Springer
The prevalence of hearing impairment is estimated as approximately 1 on 1,000 newborn
children. To assess a higher mutation detection rate in individuals with hearing loss a three …
children. To assess a higher mutation detection rate in individuals with hearing loss a three …
Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss
D Fan, W Zhu, D Li, D Ji, P Wang - PLoS One, 2014 - journals.plos.org
Different ethnic groups have distinct mutation spectrums associated with inheritable
deafness. In order to identify the mutations responsible for congenital hearing loss in the …
deafness. In order to identify the mutations responsible for congenital hearing loss in the …
Contribution of GJB2 mutations and Four common DFNB loci in autosomal recessive non-syndromic hearing impairment in Markazi and Qom provinces of Iran
AAR SADEGHI, MH Sanati, F Alasti… - 2009 - sid.ir
This study aimed to investigate the contribution of four common DFNB (“DFN” for deafness
and “B” for autosomal resessive locus) loci and GJB2 gene mutations (exon 2) in HEARING …
and “B” for autosomal resessive locus) loci and GJB2 gene mutations (exon 2) in HEARING …
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients
R Teek, K Kruustük, R Žordania, K Joost… - Advances in Medical …, 2013 - Elsevier
Purpose The present study was initiated to establish the etiological causes of early onset
hearing loss (HL) among Estonian children between 2000–2009. Methods The study group …
hearing loss (HL) among Estonian children between 2000–2009. Methods The study group …
Distribution of mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes variants associated with hearing loss in Southwestern China
S Zhou, M Chen, J Pei, C Zhang, X Ren, J Li… - International Journal of …, 2024 - Elsevier
Background Maternally inherited hearing loss has been associated with mitochondrial
genes, including MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE. Among these genes, MT …
genes, including MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE. Among these genes, MT …
High Frequency of 35delG GJB2 Mutation and Absence of del(GJB6-D13S1830) in Greek Cypriot Patients with Nonsyndromic Hearing Loss
V Neocleous, A Aspris, V Shahpenterian… - Genetic …, 2006 - liebertpub.com
Mutations in the GJB2 (Connexin 26) gene are responsible for more than half of all cases of
prelingual, recessive, inherited, nonsyndromic deafness in Europe. This paper presents a …
prelingual, recessive, inherited, nonsyndromic deafness in Europe. This paper presents a …
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3
SY Khan, S Riazuddin, M Tariq, S Anwar, MI Shabbir… - Human genetics, 2007 - Springer
A genome wide linkage analysis of nonsyndromic deafness segregating in a
consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for …
consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for …
[图书][B] Genetics of deafness
B Vona, T Haaf - 2016 - books.google.com
Genetics of Deafness offers a journey through areas crucial for understanding the causes
and effects of hearing loss. It covers such topics as the latest approaches in diagnostics and …
and effects of hearing loss. It covers such topics as the latest approaches in diagnostics and …
Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness
Deafness is an etiologically heterogeneous trait with a wide variety of genetic and
environmental causes. It is generally considered that genetic factors account for at least half …
environmental causes. It is generally considered that genetic factors account for at least half …