Results 41 to 50 of about 9,773 (106)

A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family. [PDF]

Chin Med J (Engl), 2022
Zeng B, Xu H, Tian Y, Lin Q, Feng H, Zhang Z, Li S, Tang W.   +7 more
europepmc   +1 more source

First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss. [PDF]

BMC Med Genomics
Ghasemi H, Esmaeilzadeh E, Abghari FZ, Mohseni M, Akbarpoor E, Khorram Khorshid HR, Bazazzadegan N, Najafipour R.   +7 more
europepmc   +1 more source

Whole Exome Sequencing Identifies Novel Splicing Variants in the PTPRQ Gene and Their Mechanisms in Autosomal Recessive Non-Syndromic Hearing Loss. [PDF]

J Otol
Zhang K, Xin X, Liu J, Hou B, Qu P, Xu X, Zhang H.   +6 more
europepmc   +1 more source

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants. [PDF]

Eur J Pediatr
Elbagoury NM, Ashaat EA, Mekkawy MK, Mohamed RY, Askoura AM, Milad PM, Essawi ML.   +6 more
europepmc   +1 more source

Correction: Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. [PDF]

BMC Med Genomics
Nouri Z, Sarmadi A, Narrei S, Kianersi H, Kianersi F, Tabatabaiefar MA.   +5 more
europepmc   +1 more source

A Novel Candidate Gene <i>MACF1</i> is Associated with Autosomal Dominant Non-syndromic Hearing Loss in an Iranian Family. [PDF]

Arch Iran Med
Bazazzadegan N, Babanejad M, Banihashemi S, Arzhangi S, Kahrizi K, Booth KT, Najmabadi H.   +6 more
europepmc   +1 more source

Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester. [PDF]

Orphanet J Rare Dis
Li H, Li S, Zhao Z, Kong L, Fu X, Zhu J, Feng J, Tang W, Wu D, Kong X.   +9 more
europepmc   +1 more source

Novel Pathogenic Variant of the <i>TRRAP</i> Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss. [PDF]

Int J Mol Sci
Nagy N, Szalenko-Tőkés Á, Pál M, Bokor BA, Nagy R, Jarabin JA, Róvó L, Széll M.   +7 more
europepmc   +1 more source

Bi-Allelic <i>MARVELD2</i> Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss. [PDF]

Int J Mol Sci
Twumasi Aboagye E, Adadey SM, Alves de Souza Rios L, Esoh KK, Wonkam-Tingang E, Xhakaza L, De Kock C, Schrauwen I, Amenga-Etego L, Lang D, Awandare GA, Leal SM, Mowla S, Wonkam A.   +13 more
europepmc   +1 more source

Rethinking non-syndromic hearing loss and its mimics in the genomic era. [PDF]

Eur J Hum Genet
Vona B.
europepmc   +1 more source