Further evidence of involvement of SERPINB6 in autosomal recessive non-syndromic hearing loss

被引：0

作者：

Vona, Barbara ^{[1
]}

Schade-Mann, Thore ^{[1
]}

Stoebe, Petra ^{[2
]}

Gamerdinger, Philipp ^{[1
]}

Rad, Aboulfazl ^{[1
]}

Sturm, Marc ^{[2
]}

Lowenheim, Hubert ^{[1
]}

Haack, Tobias B. ^{[2
]}

Tropitzsch, Anke ^{[1
]}

机构：

[1] Univ Tubingen, Tubingen Hearing Res Ctr, Dept Otolaryngol Head & Neck Surg, Tubingen, Germany

[2] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P02.006.C

引用

页码：119 / 119

页数：1

共 50 条

[11] Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades
Shadab, Madiha
Abbasi, Ansar Ahmed
Ejaz, Ahsan
Ben-Mahmoud, Afif
Gupta, Vijay
Kim, Hyung-Goo
Vona, Barbara
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2024, 28 (08)
[12] First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss
Ozyilmaz, Berk
Mercan, Gul Caner
Kirbiyik, Ozgur
Ozdemir, Taha Resid
Ozkara, Samira
Kaya, Ozge Ozer
Kutbay, Yasar Bekir
Erdogan, Kadri Murat
Guvenc, Merve Saka
Koc, Altug
TURKISH ARCHIVES OF OTORHINOLARYNGOLOGY, 2019, 57 (03) : 140 - 148
[13] Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss
Lee, Kwanghyuk
Ansar, Muhammad
Andrade, Paula B.
Khan, Bushra
Santos-Cortez, Regie Lyn P.
Ahmad, Wasim
Leal, Suzanne M.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (02) : 315 - 321
[14] Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families
Chaleshtori, M. Hashemzadeh
Simpson, M. A.
Farrokhi, E.
Dolati, M.
Rad, L. Hoghooghi
Geshnigani, S. Amani
Crosby, A. H.
CLINICAL GENETICS, 2007, 72 (03) : 261 - 263
[15] A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss
Wasano, Koichiro
Mutai, Hideki
Obuchi, Chie
Masuda, Sawako
Matsunaga, Tatsuo
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2015, 463 (04) : 582 - 586
[16] Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference
Oonk, A. M. M.
Huygen, P. L. M.
Kunst, H. P. M.
Kremer, H.
Pennings, R. J. E.
CLINICAL OTOLARYNGOLOGY, 2016, 41 (05) : 487 - 497
[17] Non-syndromic, autosomal-recessive deafness
Petersen, MB
Willems, PJ
CLINICAL GENETICS, 2006, 69 (05) : 371 - 392
[18] The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment
del Castillo, Francisco J.
del Castillo, Ignacio
FRONTIERS IN BIOSCIENCE-LANDMARK, 2011, 16 : 3252 - 3274
[19] A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family
Sarmadi, Akram
Nasrniya, Samane
Farsani, Maryam Soleimani
Narrei, Sina
Nouri, Zahra
Sepehrnejad, Mahsa
Nilforoush, Mohammad Hussein
Abtahi, Hamidreza
Tabatabaiefar, Mohammad Amin
BMC MEDICAL GENETICS, 2020, 21 (01)
[20] PREVALENCE OF VARIANTS IN DFNB1 LOCUS IN SERBIAN PATIENTS WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS
Dobric, Bojana
Radivojevic, Danijela
Jecmenica, Jovana
Fanis, Pavlos
Neocleous, Vassos
Phylactou, Leonidas
Djurisic, Marina
GENETIKA-BELGRADE, 2022, 54 (01): : 447 - 456

← 1 2 3 4 5 →