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La ricerca find articoli where soggetti phrase all words 'RECESSIVE DEAFNESS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 124 riferimenti
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    1. Kudo, T; Ikeda, K; Oshima, T; Kure, S; Tammasaeng, M; Prasansuk, S; Matsubara, Y
      GJB2 (connexin 26) mutations and childhood deafness in Thailand

      OTOLOGY & NEUROTOLOGY
    2. Petit, C
      Usher syndrome: From genetics to pathogenesis

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    3. Ostrer, H
      A genetic profile of contemporary Jewish populations

      NATURE REVIEWS GENETICS
    4. Akita, J; Abe, S; Shinkawa, H; Kimberling, WJ; Usami, S
      Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese

      JOURNAL OF HUMAN GENETICS
    5. Dong, JL; Katz, DR; Eng, CM; Kornreich, R; Desnick, RJ
      Nonradioactive detection. of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews

      MOLECULAR GENETICS AND METABOLISM
    6. Lucotte, G; Mercier, G
      Meta-analysis of GJB2 mutation 35delG frequencies in Europe

      GENETIC TESTING
    7. Simsek, M; Al-Wardy, N; Al-Khabory, M
      A seminested PCR test for simultaneous detection of two common mutations (35delG and 167delT) in the connexin-26 gene

      MOLECULAR DIAGNOSIS
    8. Steel, KP; Kros, CJ
      A genetic approach to understanding auditory function

      NATURE GENETICS
    9. Bolz, H; von Brederlow, B; Ramirez, A; Bryda, EC; Kutsche, K; Nothwang, HG; Seeliger, M; Cabrera, MDS; Vila, MC; Molina, OP; Gal, A; Kubisch, C
      Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

      NATURE GENETICS
    10. Lin, D; Goldstein, JA; Mhatre, AN; Lustig, LR; Pfister, M; Lalwani, AK
      Assessment of denaturing high-performance liquid chromatography (DHPLC) inscreening for mutations in connexin 26 (GJB2)

      HUMAN MUTATION
    11. Mangino, M; Flex, E; Capon, F; Sangiuolo, F; Carraro, E; Gualandi, F; Mazzoli, M; Martini, A; Novelli, G; Dallapiccola, B
      Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26

      EUROPEAN JOURNAL OF HUMAN GENETICS
    12. Ng, L; Rusch, A; Amma, LL; Nordstrom, K; Erway, LC; Vennstrom, B; Forrest, D
      Suppression of the deafness and thyroid dysfunction in Thrb-null mice by an independent mutation in the Thra thyroid hormone receptor alpha gene

      HUMAN MOLECULAR GENETICS
    13. Lucotte, G; Bathelier, C; Champenois, T
      PCR test for diagnosis of the common CJB2 (connexin 26) 35delG mutation ondried blood spots and determination of the carrier frequency in France

      MOLECULAR AND CELLULAR PROBES
    14. Chen, AH; Stephan, DA; Hasson, T; Fukushima, K; Nelissen, CM; Chen, AF; Jun, AI; Ramesh, A; Van Camp, G; Smith, RJH
      MYO1F as a candidate gene for nonsyndromic deafness, DFNB15

      ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
    15. Marlin, S; Garabedian, EN; Roger, G; Moatti, L; Matha, N; Lewin, P; Petit, C; Denoyelle, F
      Connexin 26 gene mutations in congenitally deaf children - Pitfalls for genetic counseling

      ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
    16. De Leenheer, EMR; Kunst, HPM; McGuirt, WT; Prasad, SD; Brown, MR; Huygen, PLM; Smith, RJH; Cremers, WRJ
      Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13)

      ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
    17. Bai, UM; Seidman, MD
      A specific mitochondrial DNA deletion (mtDNA(4977)) is identified in a pedigree of a family with hearing loss

      HEARING RESEARCH
    18. Tekin, M; Akar, N; Cin, S; Blanton, SH; Xia, XJ; Liu, XZ; Nance, WE; Pandya, A
      Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians

      HUMAN GENETICS
    19. Antoniadi, T; Pampanos, A; Petersen, MB
      Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation

      PRENATAL DIAGNOSIS
    20. Ben Zina, Z; Masmoudi, S; Ayadi, H; Chaker, F; Ghorbel, AM; Drira, M; Petit, C
      From DFNB2 to Usher syndrome: Variable expressivity of the same disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. Tekin, M; Arnos, KS; Pandya, A
      Advances in hereditary deafness

      LANCET
    22. Dahl, HHM; Saunders, K; Kelly, TM; Osborn, AH; Wilcox, S; Cone-Wesson, B; Wunderlich, JL; Du Sart, D; Kamarinos, M; Gardner, RJM; Dennehy, S; Williamson, R; Vallance, N; Mutton, P
      Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness

      MEDICAL JOURNAL OF AUSTRALIA
    23. Van Laer, L; Coucke, P; Mueller, RF; Caethoven, G; Flothmann, K; Prasad, SD; Chamberlin, GP; Houseman, M; Taylor, GR; Van de Heyning, CM; Fransen, E; Rowland, J; Cucci, RA; Smith, RJH; Van Camp, G
      A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment

      JOURNAL OF MEDICAL GENETICS
    24. Rickard, S; Kelsell, DP; Sirimana, T; Rajput, K; MacArdle, B; Bitner-Glindzicz, M
      Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families

      JOURNAL OF MEDICAL GENETICS
    25. Houseman, MJ; Ellis, LA; Pagnamenta, A; Di, WL; Rickard, S; Osborn, AH; Dahl, HHM; Taylor, GR; Bitner-Glindzicz, M; Reardon, W; Mueller, RF; Kelsell, DP
      Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

      JOURNAL OF MEDICAL GENETICS
    26. Nagy, JI; Li, XB; Rempel, J; Stelmack, G; Patel, D; Staines, WA; Yasumura, T; Rash, JE
      Connexin26 in adult rodent central nervous system: Demonstration at astrocytic gap junctions and colocalization with connexin30 and connexin43

      JOURNAL OF COMPARATIVE NEUROLOGY
    27. Gross, M; Lange, K; Spormann-Lagodzinski, M
      Connatal hearing disorders in children. Part II: Genetic hearing loss

      HNO
    28. Liu, XZ; Blanton, SH; Bitner-Glindzicz, M; Pandya, A; Landa, B; MacArdle, B; Rajput, K; Bellman, S; Webb, BT; Ping, X; Smith, RJH; Nance, WE
      Haplotype analysis of the USH1D locus and genotype-phenotype correlations

      CLINICAL GENETICS
    29. Kelsell, DP; Di, WL; Houseman, MJ
      Connexin mutations in skin disease and hearing loss

      AMERICAN JOURNAL OF HUMAN GENETICS
    30. Peltonen, L; Palotie, A; Lange, K
      Use of population isolates for mapping complex traits

      NATURE REVIEWS GENETICS
    31. Krutovskikh, V; Yamasaki, H
      Connexin gene mutations in human genetic diseases

      MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
    32. Milunsky, JM; Maher, TA; Yosunkaya, E; Vohr, BR
      Connexin-26 gene analysis in hearing-impaired newborns

      GENETIC TESTING
    33. Prasad, S; Cucci, RA; Green, GE; Smith, RJH
      Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

      HUMAN MUTATION
    34. Rabionet, R; Gasparini, P; Estivill, X
      Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

      HUMAN MUTATION
    35. Antoniadi, T; Gronskov, K; Sand, A; Pampanos, A; Brondum-Nielsen, K; Petersen, MB
      Mutation analysis of the GJB2 (Connexin 26) gene by DGGE in Greek patientswith sensorineural deafness

      HUMAN MUTATION
    36. Adato, A; Raskin, L; Petit, C; Bonne-Tamir, B
      Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOFand PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

      EUROPEAN JOURNAL OF HUMAN GENETICS
    37. Gasparini, P; Rabionet, R; Barbujani, G; Melchionda, S; Petersen, M; Brondum-Nielsen, K; Metspalu, A; Oitmaa, E; Pisano, M; Fortina, P; Zelante, L; Estivill, X
      High carrier frequency of the 35delG deafness mutation in European populations

      EUROPEAN JOURNAL OF HUMAN GENETICS
    38. Casademont, I; Chevrier, D; Denoyelle, F; Petit, C; Guesdon, JL
      A simple and reliable method for the detection of the 30delG mutation of the CX26 gene

      MOLECULAR AND CELLULAR PROBES
    39. Johnson, KR; Zheng, QY; Erway, LC
      A major gene affecting age-related hearing loss is common to at least ten inbred strains of mice

      GENOMICS
    40. Scott, DA; Drury, S; Sundstrom, RA; Bishop, J; Swiderski, RE; Carmi, R; Ramesh, A; Elbedour, K; Srisailapathy, CRS; Keats, BJ; Sheffield, VC; Smith, RJH
      Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms ina novel gene, TMEM2

      GENE
    41. Rabionet, R; Zelante, L; Lopez-Bigas, N; D'Agruma, L; Melchionda, S; Restagno, G; Arbones, ML; Gasparini, P; Estivill, X
      Molecular basis of childhood deafness resulting from mutations in the GJB2(connexin 26) gene

      HUMAN GENETICS
    42. Sobe, T; Vreugde, S; Shahin, H; Berlin, M; Davis, N; Kanaan, M; Yaron, Y; Orr-Urtreger, A; Frydman, M; Shohat, M; Avraham, KB
      The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

      HUMAN GENETICS
    43. Lefebvre, PP; Van de Water, TR
      Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene

      BRAIN RESEARCH REVIEWS
    44. White, TW
      Functional analysis of human Cx26 mutations associated with deafness

      BRAIN RESEARCH REVIEWS
    45. Kelley, PM; Cohn, E; Kimberling, WJ
      Connexin 26: required for normal auditory function

      BRAIN RESEARCH REVIEWS
    46. Lerer, I; Sagi, M; Malamud, E; Levi, H; Raas-Rothschild, A; Abeliovich, D
      Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT

      AMERICAN JOURNAL OF MEDICAL GENETICS
    47. Van Hauwe, P; Coucke, PJ; Ensink, RJ; Huygen, P; Cremers, CWRJ; Van Camp, G
      Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominanthearing loss, cluster in the channel pore region

      AMERICAN JOURNAL OF MEDICAL GENETICS
    48. Kudo, T; Ikeda, K; Kure, S; Matsubara, Y; Oshima, T; Watanabe, K; Kawase, T; Narisawa, K; Takasaka, T
      Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    49. Weigell-Weber, M; Schinzel, A; Hergersberg, M
      Hereditary hearing loss due to mutations in the connexin-26 gene

      SCHWEIZERISCHE MEDIZINISCHE WOCHENSCHRIFT
    50. Willems, PJ
      Mechanism of disease: Genetic causes of hearing loss.

      NEW ENGLAND JOURNAL OF MEDICINE
    51. Abe, S; Usami, S; Shinkawa, H; Kelley, PM; Kimberling, WJ
      Prevalent connexin 26 gene (GJB2) mutations in Japanese

      JOURNAL OF MEDICAL GENETICS
    52. Cremers, CWRJ
      Hearing: cracking the code

      JOURNAL OF LARYNGOLOGY AND OTOLOGY
    53. Ben Arab, S; Hmani, M; Denoyelle, F; Boulila-Elgaied, A; Chardenoux, S; Hachicha, S; Petit, C; Ayadi, H
      Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates

      CLINICAL GENETICS
    54. Reardon, W; Mueller, RF
      Inherited deafness in childhood - the genetic revolution unmasks the clinical challenge

      ARCHIVES OF DISEASE IN CHILDHOOD
    55. Angeli, S; Utrera, R; Dib, S; Chissone, E; Naranjo, C; Henriquez, O; Porta, M
      GJB2 gene mutations in childhood deafness

      ACTA OTO-LARYNGOLOGICA
    56. Kitamura, K; Takahashi, K; Noguchi, Y; Kuroishikawa, Y; Tamagawa, Y; Ishikawa, K; Ichimura, K; Hagiwara, H
      Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct

      ACTA OTO-LARYNGOLOGICA
    57. Gasparini, P; Estivill, X; Fortina, P
      Vestibular and hearing loss in genetic and metabolic disorders

      CURRENT OPINION IN NEUROLOGY
    58. Keats, BJB; Berlin, CI
      Genomics and hearing impairment

      GENOME RESEARCH
    59. Yasunaga, S; Grati, M; Cohen-Salmon, M; El-Amraoui, A; Mustapha, M; Salem, N; El-Zir, E; Loiselet, J; Petit, C
      A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

      NATURE GENETICS
    60. Storm, K; Willocx, S; Flothmann, K; Van Camp, G
      Determination of the carrier frequency of the common GJB2 (Connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method

      HUMAN MUTATION
    61. Maestrini, E; Korge, BP; Ocana-Sierra, J; Calzolari, E; Cambiaghi, S; Scudder, PM; Hovnanian, A; Monaco, AP; Munro, CS
      A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

      HUMAN MOLECULAR GENETICS
    62. Coucke, PJ; Van Hauwe, P; Kelley, PM; Kunst, H; Schatteman, I; Van Velzen, D; Meyers, J; Ensink, RJ; Verstreken, M; Declau, F; Marres, H; Kastury, K; Bhasin, S; McGuirt, WT; Smith, RJH; Cremers, CWRJ; Van de Heyning, P; Willems, PJ; Smith, SD; Van Camp, G
      Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families

      HUMAN MOLECULAR GENETICS
    63. Skvorak, AB; Weng, ZP; Yee, AJ; Robertson, NG; Morton, CC
      Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness

      HUMAN MOLECULAR GENETICS
    64. Martin, PEM; Coleman, SL; Casalotti, SO; Forge, A; Evans, WH
      Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

      HUMAN MOLECULAR GENETICS
    65. Kelley, PM; Abe, S; Askew, JW; Smith, SD; Usami, SI; Kimberling, WJ
      Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: Molecular cloning, tissue-specific expression, and assignment to chromosome13q12

      GENOMICS
    66. Liang, Y; Wang, AH; Belyantseva, IA; Anderson, DW; Probst, FJ; Barber, TD; Miller, W; Touchman, JW; Jin, L; Sullivan, SL; Sellers, JR; Camper, SA; Lloyd, RV; Kachar, B; Friedman, TB; Fridell, RA
      Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2

      GENOMICS
    67. Adler, HJ; Winnicki, RS; Gong, TWL; Lomax, MI
      A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein

      GENOMICS
    68. McCabe, ERB; McCabe, LL
      State-of-the-art for DNA technology in newborn screening

      ACTA PAEDIATRICA
    69. Kimberling, WJ
      Genetic testing of hearing loss disorders

      MOLECULAR MEDICINE: NOVEL FINDINGS OF GENE DIAGNOSIS, REGULATION OF GENE EXPRESSION, AND GENE THERAPY
    70. Probst, FJ; Camper, SA
      The role of mouse mutants in the identification of human hereditary hearing loss genes

      HEARING RESEARCH
    71. Bom, SJH; Kunst, HPM; Huygen, PLM; Cremers, FPM; Cremers, CWRJ
      Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes

      BRITISH JOURNAL OF AUDIOLOGY
    72. Lalwani, AK; Castelein, CM
      Cracking the auditory genetic code: Nonsyndromic hereditary hearing impairment

      AMERICAN JOURNAL OF OTOLOGY
    73. Lautermann, J; Frank, HG; Jahnke, K; Traub, O; Winterhager, E
      Developmental expression patterns of connexin26 and-30 in the rat cochlea

      DEVELOPMENTAL GENETICS
    74. Mueller, RF; Nehammer, A; Middleton, A; Houseman, M; Taylor, GR; Bitner-Glindzciz, M; Van Camp, G; Parker, M; Young, ID; Davis, A; Newton, VE; Lench, NJ
      Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations - molecular and audiological findings

      INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
    75. Cohn, ES; Kelley, PM
      Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss

      AMERICAN JOURNAL OF MEDICAL GENETICS
    76. Friedman, TB; Sellers, JR; Avraham, KB
      Unconventional myosins and the genetics of hearing loss

      AMERICAN JOURNAL OF MEDICAL GENETICS
    77. Keats, BJB; Corey, DP
      The Usher syndromes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    78. Van Laer, L; McGuirt, WT; Yang, T; Smith, RJH; Van Camp, G
      Autosomal dominant nonsyndromic hearing impairment

      AMERICAN JOURNAL OF MEDICAL GENETICS
    79. Sobe, T; Erlich, P; Berry, A; Korostichevsky, M; Vreugde, S; Avraham, KB; Bonne-Tanir, B; Shohat, M
      High frequency of the deafness-associated 167delT mutation in the connexin26 (GJB2) gene in Israeli Ashkenazim

      AMERICAN JOURNAL OF MEDICAL GENETICS
    80. Abe, S; Usami, S; Hoover, DM; Cohn, E; Shinkawa, H; Kimberling, WJ
      Fluctuating sensorineural hearing loss associated with enlarged vestibularaqueduct maps to 7q31, the region containing the Pendred gene

      AMERICAN JOURNAL OF MEDICAL GENETICS
    81. Denoyelle, F; Marlin, S; Weil, D; Moatti, L; Chauvin, P; Garabedian, EN; Petit, C
      Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

      LANCET
    82. Green, GE; Scott, DA; McDonald, JM; Woodworth, GG; Sheffield, VC; Smith, RJH
      Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    83. White, TW; Paul, DL
      Genetic diseases and gene knockouts reveal diverse connexin functions

      ANNUAL REVIEW OF PHYSIOLOGY
    84. Cohn, ES; Kelley, PM; Fowler, TW; Gorga, MP; Lefkowitz, DM; Kuehn, HJ; Schaefer, GB; Gobar, LS; Hahn, FJ; Harris, DJ; Kimberling, WJ
      Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

      PEDIATRICS
    85. Coucke, PJ; Van Hauwe, P; Everett, LA; Demirhan, O; Kabakkaya, Y; Dietrich, NL; Smith, RJH; Coyle, E; Reardon, W; Trembath, R; Willems, PJ; Green, ED; Van Camp, G
      Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome

      JOURNAL OF MEDICAL GENETICS
    86. Rabionet, R; Estivill, X
      Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene

      JOURNAL OF MEDICAL GENETICS
    87. Parker, MJ; Fortnum, H; Young, ID; Davis, AC
      Variations in genetic assessment and recurrence risks quoted for childhooddeafness: a survey of clinical geneticists

      JOURNAL OF MEDICAL GENETICS
    88. Murgia, A; Orzan, E; Polli, R; Martella, M; Vinanzi, C; Leonardi, E; Arslan, E; Zacchello, F
      Cx26 deafness: mutation analysis and clinical variability

      JOURNAL OF MEDICAL GENETICS
    89. Alagramam, KN; Kwon, HY; Cacheiro, NLA; Stubbs, L; Wright, CG; Erway, LC; Woychik, RP
      A new mouse insertional mutation that causes sensorineural deafness and vestibular defects

      GENETICS
    90. Antoniadi, T; Rabionet, R; Kroupis, C; Aperis, GA; Economides, J; Petmezakis, J; Economou-Petersen, E; Estivill, X; Petersen, MB
      High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness

      CLINICAL GENETICS
    91. Robertson, NG; Morton, CC
      Beginning of a molecular era in hearing and deafness

      CLINICAL GENETICS
    92. Fukushima, K; Kasai, N; Ueki, Y; Nishizaki, K; Sugata, K; Hirakawa, S; Masuda, A; Gunduz, M; Ninomiya, Y; Masuda, Y; Sato, M; McGuirt, WT; Coucke, P; Van Camp, G; Smith, RJH
      A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3

      AMERICAN JOURNAL OF HUMAN GENETICS
    93. Plenge, RM; Tranebjaerg, L; Jensen, PKA; Schwartz, C; Willard, HF
      Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation

      AMERICAN JOURNAL OF HUMAN GENETICS
    94. CREMERS FPM
      GENETIC CAUSES OF HEARING-LOSS

      Current opinion in neurology
    95. Mustapha, M; Salem, N; Weil, D; El-Zir, E; Loiselet, J; Petit, C
      Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness

      EUROPEAN JOURNAL OF HUMAN GENETICS
    96. PFISTER MHF; APAYDIN F; TURAN O; BEREKETOGLU M; BYLGEN V; BRAENDLE U; ZENNER HP; LALWANI AK
      A 2ND FAMILY WITH NONSYNDROMIC SENSORINEURAL HEAVING LOSS LINKED TO XP21.2 - REFINEMENT OF THE DFN4 LOCUS WITHIN DMD

      Genomics (San Diego, Calif.)
    97. ZOBELEY E; SUFALKO DK; ADKINS S; BURMEISTER M
      FINE GENETIC AND COMPARATIVE MAPPING OF THE DEAFNESS MUTATION AMES WALTZER ON MOUSE-CHROMOSOME-10

      Genomics
    98. GILGENKRANTZ S
      LISTENING TO DEAFNESS, THE PENDRED-SYNDRO ME

      MS. Medecine sciences
    99. Richard, G; White, TW; Smith, LE; Bailey, RA; Compton, JG; Paul, DL; Bale, SJ
      Functional defects of Cx26 resulting from a heterozygous missense mutationin a family with dominant deaf-mutism and palmoplantar keratoderma

      HUMAN GENETICS
    100. KUNST H; MARRES H; VANCAMP G; CREMERS C
      NON-SYNDROMIC AUTOSOMAL-DOMINANT SENSORINEURAL HEARING-LOSS - A NEW FIELD OF RESEARCH

      Clinical otolaryngology and allied sciences


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Documento generato il 30/05/20 alle ore 21:43:55