|1|CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. (27494218) |2016|
|2|A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. (26631968)
Masuda M.... Matsunaga T.
|3|Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. (26173970)
Seco C.Z.... Kremer H.
|4|Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. (25807530)
Simon M.... Riazuddin S.
|5|Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. (26196677)
Gao J.... Liu Y.
|6|Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86. (24387994)
Rehman A.U.... Friedman T.B.
|7|In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes. (24785695)
Bosch J.... Wonkam A.
|8|Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans. (25162826)
Bosch J.... Wonkam A.
|9|Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing. (23901193)
SalomALo K.B.... Della-Rosa V.A.
|10|Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China. (24341454)
Xin F.... Dai P.
|11|Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort. (22853457)
Vivero R.J.... Liu X.Z.
|12|Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1I+) docking protein. (23213405)
Ferrar T.... Moorhead G.B.
|13|Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. (21117948)
Duman D.... Tekin M.
|14|Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness. (21029073)
|15|Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. (20563649)
Cordeiro-Silva M.d.e. .F.... Louro I.D.
|16|Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. (20170899)
Rehman A.U.... Friedman T.B.
|17|DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. (19603065)
Khan S.Y.... Friedman T.B.
|18|Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. (19645626)
Kunishima S.... Saito H.
|19|Function and expression pattern of nonsyndromic deafness genes. (19601806)
Hilgert N.... Van Camp G.
|20|Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. (19107147)
Doucette L.... Young T.L.
|21|Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (18719945)
Ahmed Z.M.... Friedman T.B.
|22|Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (18953341)
Ahmed Z.M.... Kremer H.
|23|Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (18181211)
Riazuddin S.... Friedman T.B.
|24|The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. (17690910)
Ain Q.... Riazuddin S.
|25|GJB6 gene mutation analysis in Chinese nonsyndromic deaf population]. (17438853)
Yuan Y.... Wu B.
|26|Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. (17259707)
Yang J.J.... Li S.Y.
|27|Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (17066295)
Khan S.Y.... Riazuddin S.
|28|Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (17033161)
Su C.C.... Li S.Y.
|29|A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. (17473676)
Primignani P.... Travi M.
|30|Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness. (16086269)
Zhang H.J.... Shan X.N.
|31|Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. (15605408)
Meyer C.G.... Horstmann R.D.
|32|Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. (16365218)
Vore A.P.... Smith R.J.
|33|A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. (16158433)
Shaikh R.S.... Riazuddin S.
|34|Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. (14735592)
Shalev S.A.... Hujirat Y.
|35|Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. (14960712)
Li X.... Guan M.X.
|36|Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. (14681830)
Zhao H.... Guan M.X.
|37|The genetic bases for syndromic and nonsyndromic deafness among Jews. (14604828)
Ben-Yosef T.... Friedman T.B.
|38|Making sense of nonsyndromic deafness. (12707186)
Smith R.J.... Huygen P.L.
|39|Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. (12064630)
Bruzzone R.... White T.W.
|40|MYO1F as a candidate gene for nonsyndromic deafness, DFNB15. (11493199)
Chen A.H.... Smith R.J.
|41|Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. (11074495)
Lerer I.... Abeliovich D.
|42|Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. (10950923)
Berry A.... Bonne-Tamir B.
|43|Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. (11810458)
Kikuchi T.... Kobayashi T.
|44|Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. (10464101)
Minowa O.... Noda T.
|45|Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. (9806553)
Robertson N.G.... Seidman J.G.
|46|Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. (9603736)
Wang A.... Friedman T.B.
|47|Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. (9503015)
Hughes D.C.... Richardson G.P.
|48|Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (9360932)
Lynch E.D.... King M.-C.
|49|Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497)
Coyle B.... Trembath R.