Advances in hereditary deafness

[1]  K. Arnos,et al.  Innovative approach to genetic counseling services for the deaf population. , 1992, American journal of medical genetics.

[2]  C. Baldwin,et al.  An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome , 1992, Nature.

[3]  K. Arnos,et al.  Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. , 1993, American journal of medical genetics.

[4]  Mordechai Shohat,et al.  Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness , 1993, Nature Genetics.

[5]  K. Fischbeck,et al.  Connexin mutations in X-linked Charcot-Marie-Tooth disease. , 1993, Science.

[6]  Steve D. M. Brown,et al.  Defective myosin VIIA gene responsible for Usher syndrome type IB , 1995, Nature.

[7]  Steve D. M. Brown,et al.  Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene , 1997, Nature Genetics.

[8]  P. Coumel,et al.  A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome , 1997, Nature Genetics.

[9]  V. Sheffield,et al.  Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) , 1997, Nature Genetics.

[10]  D. Kelsell,et al.  Connexin 26 mutations in hereditary non-syndromic sensorineural deafness , 1997, nature.

[11]  W. Reardon,et al.  Pendred syndrome--100 years of underascertainment? , 1997, QJM : monthly journal of the Association of Physicians.

[12]  Steve D. M. Brown,et al.  Mutations in the myosin VIIA gene cause non-syndromic recessive deafness , 1997, Nature Genetics.

[13]  G. Breithardt,et al.  KCNE1 mutations cause Jervell and Lange-Nielsen syndrome , 1997, Nature Genetics.

[14]  X. Estivill,et al.  Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. , 1997, Human molecular genetics.

[15]  Christine E. Seidman,et al.  Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction , 1998, Nature Genetics.

[16]  X. Estivill,et al.  Connexin-26 mutations in sporadic and inherited sensorineural deafness , 1998, The Lancet.

[17]  D. Lim,et al.  Cell and molecular basis of hearing. , 1998, Kidney international. Supplement.

[18]  A. Middleton,et al.  Attitudes of deaf adults toward genetic testing for hereditary deafness. , 1998, American journal of human genetics.

[19]  R. Bruzzone,et al.  Connexin 26 gene linked to a dominant deafness , 1998, Nature.

[20]  X. Estivill,et al.  Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides , 1998 .

[21]  K. Xia,et al.  Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment , 1998, Nature Genetics.

[22]  S. Bale,et al.  Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis , 1998, Nature Genetics.

[23]  G. Richardson,et al.  Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment , 1998, Nature Genetics.

[24]  C. Morton,et al.  Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. , 1998, Science.

[25]  H. Ostrer,et al.  Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. , 1998, The New England journal of medicine.

[26]  K. Arnos,et al.  Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations , 1998, Human Genetics.

[27]  F. Grandori.  The European Consensus Development Conference on Neonatal Hearing Screening (Milan, May 15-16, 1998) , 1999, Archives of otolaryngology--head & neck surgery.

[28]  A. Pandya,et al.  Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. , 1999, American journal of human genetics.

[29]  G Van Camp,et al.  Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. , 1999, Human molecular genetics.

[30]  W. Reardon,et al.  Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome , 1999, Journal of medical genetics.

[31]  V. Sheffield,et al.  Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. , 1999, JAMA.

[32]  Rong Wang,et al.  The Pendred syndrome gene encodes a chloride-iodide transport protein , 1999, Nature Genetics.

[33]  Thomas Friedrich,et al.  KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness , 1999, Cell.

[34]  Mark E. Lutman,et al.  The European Consensus Development Conference on Neonatal Hearing Screening (Milan, May 15-16, 1998). , 1999, American journal of audiology.

[35]  C. Yoshinaga-Itano,et al.  Benefits of early intervention for children with hearing loss. , 1999, Otolaryngologic clinics of North America.

[36]  M. King,et al.  Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13) , 1999, Nature Genetics.

[37]  C. Petit,et al.  Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling , 1999, The Lancet.

[38]  X. Estivill,et al.  Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus , 1999, Nature Genetics.

[39]  J. Beckmann,et al.  An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. , 1999, Human molecular genetics.

[40]  C. Cremers,et al.  Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness , 1999, Nature Genetics.

[41]  W. Kimberling,et al.  Prevalent connexin 26 gene (GJB2) mutations in Japanese , 2000, Journal of medical genetics.

[42]  X. Estivill,et al.  High carrier frequency of the 35delG deafness mutation in European populations , 2000, European Journal of Human Genetics.

[43]  X. Estivill,et al.  Candidate locus for a nuclear modifier gene for maternally inherited deafness. , 2000, American journal of human genetics.

[44]  Y. Matsubara,et al.  Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. , 2000, American journal of medical genetics.

[45]  V. Sheffield,et al.  Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). , 2000, Human molecular genetics.

[46]  Richard J. H. Smith,et al.  Maternally inherited hearing impairment , 2000, Clinical genetics.

[47]  K. Steel,et al.  Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. , 2000, Human molecular genetics.

[48]  S. Riazuddin,et al.  Dominant modifier DFNM1 suppresses recessive deafness DFNB26 , 2000, Nature Genetics.

[49]  A. Pandya,et al.  Relation between choice of partner and high frequency of connexin-26 deafness , 2000, The Lancet.

[50]  M. Tekin,et al.  W44C mutation in the connexin 26 gene associated with dominant non‐syndromic deafness , 2001, Clinical genetics.

[51]  M. Tekin,et al.  Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians , 2001, Human Genetics.

[52]  S. Riazuddin,et al.  Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29 , 2001, Cell.