Genetic etiology of hearing loss in Russia
OL Posukh - Human Genetics, 2022 - Springer
Prevalence and locus/allelic heterogeneity of the hereditary hearing loss (HL) vary
significantly in different human populations. Investigation of the hereditary HL diversity and …
significantly in different human populations. Investigation of the hereditary HL diversity and …
Genetic underpinnings and audiological characteristics in children with unilateral sensorineural hearing loss
CY Lee, PH Lin, YT Chiang, CY Tsai… - … –Head and Neck …, 2023 - Wiley Online Library
Objective Unilateral sensorineural hearing loss (USNHL) is a condition commonly
encountered in otolaryngology clinics. However, its molecular pathogenesis remains …
encountered in otolaryngology clinics. However, its molecular pathogenesis remains …
Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next‐generation sequencing
M Nasirshalal, M Panahi, N Javanshir… - Journal of Clinical …, 2021 - Wiley Online Library
Background Waardenburg syndrome (WS) is a genetically heterogeneous syndrome with
both autosomal recessive and dominant inheritance. WS causes skin and iris pigmentation …
both autosomal recessive and dominant inheritance. WS causes skin and iris pigmentation …
Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant
MA Albarry, M Latif, AQ Alreheli, MA Awadh… - Plos one, 2021 - journals.plos.org
Waardenburg syndrome (WS) is a hereditary disorder affecting the auditory system and
pigmentation of hair, eyes, and skin. Different variants of the disease exist with the …
pigmentation of hair, eyes, and skin. Different variants of the disease exist with the …
[PDF][PDF] Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?
R Happle - 2021 - d-nb.info
Barashkov, NA, Romanov, GP, Borisova, UP, Solovyev, AV, Pshennikova, VG, Teryutin,
FM,… Fedorova, SA (2019). A rare case of Waardenburg syndrome with unilateral hearing …
FM,… Fedorova, SA (2019). A rare case of Waardenburg syndrome with unilateral hearing …
A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia
GP Romanov, VG Pshennikova, SA Lashin… - Plos one, 2020 - journals.plos.org
The absence of comparable epidemiological data challenges the correct estimation of the
prevalence of congenital hearing loss (HL) around the world. Sign language (SL) is known …
prevalence of congenital hearing loss (HL) around the world. Sign language (SL) is known …
[PDF][PDF] 共同性外斜视家系和散发患者突变基因分析
公慧敏， 周占宇， 刘桂香 - 中华眼视光学与视觉科学杂志, 2015 - cjoovs.com
摘要目的: 报道一个共同性外斜视家系的新发PAX3 基因突变. 方法: 实验研究. 选取一个3 代6
人的共同性外斜视家系, 另选择散发患者180 例, 正常对照组150 例. 提取家系成员外周血基因组 …
人的共同性外斜视家系, 另选择散发患者180 例, 正常对照组150 例. 提取家系成员外周血基因组 …
ЯКУТСКИЙ МЕДИЦИНСКИЙ ЖУРНАЛ
ФМ ТЕРЮТИН, ВГ ПШЕННИКОВА, ГП РОМАНОВ… - … Якутский научный центр … - elibrary.ru
Нами в Республике Бурятия проведен анализ состояния слуха у 26 пациентов с
нарушением слуха, у которых были выявлены биаллельные мутации гена GJB2 (Сх26) …
нарушением слуха, у которых были выявлены биаллельные мутации гена GJB2 (Сх26) …
[PDF][PDF] Genetic study of a family with affected members with Waardenburg syndrome type 4 without Hirschsprung disease
M Sabetghadam Moghadam, S Rayat… - European Journal of …, 2020 - bibliotekanauki.pl
Introduction. Waardenburg syndrome (WS) is an autosomally inherited disorder with the
most common state compounding pigmentary abnormality and sensorineural deafness. The …
most common state compounding pigmentary abnormality and sensorineural deafness. The …