|1|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.
|2|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.
|3|Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. (26196677)
Gao J.... Liu Y.
|4|Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. (26226137)
Bademci G.... Tekin M.
|5|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.
|6|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.
|7|Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China. (24341454)
Xin F.... Dai P.
|8|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.
|9|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.
|10|Autosomal recessive nonsyndromic deafness genes: a review. (22652773)
Duman D.... Tekin M.
|11|Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. (22567861)
Bliznets E.A.... Poliakov A.V.
|12|Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort. (22853457)
Vivero R.J.... Liu X.Z.
|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|Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. (19646679)
Riazuddin S.... Fahlke C.
|19|Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. (19645626)
Kunishima S.... Saito H.
|20|Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (18181211)
Riazuddin S.... Friedman T.B.
|21|Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (18719945)
Ahmed Z.M.... Friedman T.B.
|22|Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. (18674745)
Ruel J.... Puel J.-L.
|23|Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (18953341)
Ahmed Z.M.... Kremer H.
|24|Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (17033161)
Su C.C.... Li S.Y.
|25|The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. (17690910)
Ain Q.... Riazuddin S.
|26|GJB6 gene mutation analysis in Chinese nonsyndromic deaf population]. (17438853)
Yuan Y.... Wu B.
|27|A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. (17473676)
Primignani P.... Travi M.
|28|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.
|29|Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (17066295)
Khan S.Y.... Riazuddin S.
|30|Vestibular system in infants with hereditary nonsyndromic deafness. (17898670)
|31|A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)
GonzA!lez J.R.... Estivill X.
|32|A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. (16158433)
Shaikh R.S.... Riazuddin S.
|33|Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness. (16086269)
Zhang H.J.... Shan X.N.
|34|Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. (15637723)
Mir A.... Leal S.M.
|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|Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. (12471561)
Abe S.... Nakamura Y.
|40|Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. (11907649)
Wattenhofer M.... Antonarakis S.E.
|41|Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. (12064630)
Bruzzone R.... White T.W.
|42|Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. (11810458)
Kikuchi T.... Kobayashi T.
|43|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.
|44|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.
|45|Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. (9632174)
Bykhovskaya Y.... Fischel-Ghodsian N.
|46|Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. (9806553)
Robertson N.G.... Seidman J.G.
|47|Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (9360932)
Lynch E.D.... King M.-C.
|48|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.
|49|Mitochondrial mutation associated with nonsyndromic deafness. (8572257)
Fischel-Ghodsian N.... Maw M.