Audiologic Phenotype and Progression in Pediatric STRC‐Related Autosomal Recessive Hearing Loss
暂无分享,去创建一个
I. Krantz | Minjie Luo | K. Kawai | M. Kenna | T. Hartman | J. Germiller | Emma Schindler | Julia Perry | Andrea M Simi | Andrea M. Oza | Minjie Luo | Emma A Schindler
[1] B. Choi,et al. Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach , 2020, Genetics in Medicine.
[2] H. Rehm,et al. Exome sequencing in infants with congenital hearing impairment: a population-based cohort study , 2019, European Journal of Human Genetics.
[3] Y. Fukushima,et al. Frequency and clinical features of hearing loss caused by STRC deletions , 2019, Scientific Reports.
[4] M. Trková,et al. STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population. , 2018, Genetic testing and molecular biomarkers.
[5] M. Paprskářová,et al. STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic. , 2017, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.
[6] T. Haaf,et al. DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics , 2014, Clinical genetics.
[7] M. Avenarius,et al. CATSPER-Related Male Infertility , 2014 .
[8] Christina M. Sloan,et al. Copy number variants are a common cause of non-syndromic hearing loss , 2014, Genome Medicine.
[9] D. Babovic‐Vuksanovic,et al. Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3 , 2013, Molecular Cytogenetics.
[10] Joseph T. Glessner,et al. Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment , 2012, American journal of medical genetics. Part A.
[11] C. Petit,et al. Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane , 2011, The Journal of comparative neurology.
[12] I. Schrijver,et al. Connexin-26–associated deafness: Phenotypic variability and progression of hearing loss , 2010, Genetics in Medicine.
[13] H. Rehm,et al. Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. , 2010, Archives of otolaryngology--head & neck surgery.
[14] H. Tanke,et al. A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents , 2009, Journal of Medical Genetics.
[15] PJ Willems,et al. Non‐syndromic, autosomal‐recessive deafness , 2006, Clinical genetics.
[16] Mustafa Tekin,et al. GJB2 mutations and degree of hearing loss: a multicenter study. , 2005, American journal of human genetics.
[17] R. Hammer,et al. Hyperactivated sperm motility driven by CatSper2 is required for fertilization , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[18] C. Petit,et al. Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus , 2001, Nature Genetics.
[19] F. Moreno,et al. Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. , 1999, American journal of human genetics.
[20] A. Markham,et al. A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. , 1997, Journal of medical genetics.
[21] G. Camp,et al. The hereditary hearing loss homepage , 1997 .