ACNP - Italian Periodicals Catalogue

AAAAAA

ITA
ENG

Results: 1-25 | 26-50 | 51-54

Results: 1-25/54

Hereditary otovestibular dysfunction and Meniere's disease in a large Belgian family is caused by a missense mutation in the COCH gene

Authors: Verstreken, M Declau, F Wuyts, FL D'Haese, P Van Camp, G Fransen, E Van den Hauwe, L Buyle, S Smets, REM Feenstra, L Van der Stappen, A Van de Heyning, PH

Citation: M. Verstreken et al., Hereditary otovestibular dysfunction and Meniere's disease in a large Belgian family is caused by a missense mutation in the COCH gene, OTOL NEURO, 22(6), 2001, pp. 874-881

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction

Authors: Hutchin, TP Navarro-Coy, NC Van Camp, G Tiranti, V Zeviani, M Schuelkes, M Jaksch, M Newton, V Mueller, RF

Citation: Tp. Hutchin et al., Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction, EUR J HUM G, 9(5), 2001, pp. 385-387

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

Authors: Wayne, S Robertson, NG DeClau, F Chen, N Verhoeven, K Prasad, S Tranebjarg, L Morton, CC Ryan, AF Van Camp, G Smith, RJH

Citation: S. Wayne et al., Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus, HUM MOL GEN, 10(3), 2001, pp. 195-200

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

Authors: Bespalova, IN Van Camp, G Bom, SJH Brown, DJ Cryns, K DeWan, AT Erson, AE Flothmann, K Kunst, HPM Kurnool, P Sivakumaran, TA Cremers, CWRJ Leal, SM Burmeister, M Lesperance, MM

Citation: In. Bespalova et al., Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss, HUM MOL GEN, 10(22), 2001, pp. 2501-2508

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F (vol 10, pg 1709, 2001)

Authors: Alagramam, KN Yuan, HJ Kuehn, MH Murcia, CL Wayne, S Srisailpathy, CRS Lowry, RB Knaus, R Van Laer, L Bernier, FP Schwartz, S Lee, C Morton, CC Mullins, RF Ramesh, A Van Camp, G Hageman, GS Woychik, RP Smith, RJH

Citation: Kn. Alagramam et al., Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F (vol 10, pg 1709, 2001), HUM MOL GEN, 10(22), 2001, pp. 2603-2603

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

Citation: Kn. Alagramam et al., Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F, HUM MOL GEN, 10(16), 2001, pp. 1709-1718

Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH

Authors: Bom, SJH De Leenheer, EMR Lemaire, FX Kemperman, MH Verhagen, WIM Marres, HAM Kunst, HPM Ensink, RJH Bosman, AJ Van Camp, G Cremers, FPM Huygen, PLM Cremers, CWRJ

Citation: Sjh. Bom et al., Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH, ARCH OTOLAR, 127(9), 2001, pp. 1045-1048

MYO1F as a candidate gene for nonsyndromic deafness, DFNB15

Authors: Chen, AH Stephan, DA Hasson, T Fukushima, K Nelissen, CM Chen, AF Jun, AI Ramesh, A Van Camp, G Smith, RJH

Citation: Ah. Chen et al., MYO1F as a candidate gene for nonsyndromic deafness, DFNB15, ARCH OTOLAR, 127(8), 2001, pp. 921-925

A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13

Authors: Ensink, RJH Huygen, PLM Snoeckx, RL Caethoven, G Van Camp, G Cremers, CWRJ

Citation: Rjh. Ensink et al., A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13, CLIN OTOLAR, 26(4), 2001, pp. 310-316

Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome

Authors: Stinckens, C Huygen, PLM Joosten, FBM Van Camp, G Otten, B Cremers, CWRJ

Citation: C. Stinckens et al., Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome, INT J PED O, 61(3), 2001, pp. 207-215

Redistributive effects of the shift from personal income taxes to indirecttaxes: Belgium 1988-93

Authors: Decoster, A Van Camp, G

Citation: A. Decoster et G. Van Camp, Redistributive effects of the shift from personal income taxes to indirecttaxes: Belgium 1988-93, FISC STUD, 22(1), 2001, pp. 79-106

A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment

Authors: 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

Citation: L. Van Laer et al., A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment, J MED GENET, 38(8), 2001, pp. 515-518

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

Authors: Fransen, E Verstreken, M Bom, SJH Lemaire, F Kemperman, MH De Kok, YJM Wuyts, FL Verhagen, WIM Huygen, PLM McGuirt, WT Smith, RJH Van Maldergem, L Declau, F Cremers, CWRJ Van de Heyning, PH Cremers, FPM Van Camp, G

Citation: E. Fransen et al., A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation, J MED GENET, 38(1), 2001, pp. 61-64

Destruction of contrast microbubbles by ultrasound - Effects on myocardialfunction, coronary perfusion pressure, and microvascular integrity

Authors: Ay, T Havaux, X Van Camp, G Campanelli, B Gisellu, G Pasquet, A Denef, JF Melin, JA Vanoverschelde, JLJ

Citation: T. Ay et al., Destruction of contrast microbubbles by ultrasound - Effects on myocardialfunction, coronary perfusion pressure, and microvascular integrity, CIRCULATION, 104(4), 2001, pp. 461-466

Activities of the pituitary-adrenal and gonadal axes during the estrous cycle in adult female rats prenatally exposed to morphine

Authors: Dutriez-Casteloot, I Montel, V Croix, D Laborie, C Van Camp, G Beauvillain, JC Dupouy, JP

Citation: I. Dutriez-casteloot et al., Activities of the pituitary-adrenal and gonadal axes during the estrous cycle in adult female rats prenatally exposed to morphine, BRAIN RES, 902(1), 2001, pp. 66-73

A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36

Authors: Van den Bogaert, K Govaerts, PJ Schatteman, I Brown, MR Caethoven, G Offeciers, FE Somers, T Declau, F Coucke, P Van de Heyning, P Smith, RJH Van Camp, G

Citation: K. Van Den Bogaert et al., A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36, AM J HU GEN, 68(2), 2001, pp. 495-500

The M34T allele variant of Connexin 26

Authors: Cucci, RA Prasad, S Kelley, PM Green, GE Storm, K Willocx, S Cohn, ES Van Camp, G Smith, RJH

Citation: Ra. Cucci et al., The M34T allele variant of Connexin 26, GENET TEST, 4(4), 2000, pp. 335-344

A Dutch family with progressive sensorineural hearing impairment linked tothe DFNA2 region

Authors: Ensink, RJH Huygen, PLM Van Hauwe, P Coucke, P Cremers, CWRJ Van Camp, G

Citation: Rjh. Ensink et al., A Dutch family with progressive sensorineural hearing impairment linked tothe DFNA2 region, EUR ARCH OT, 257(2), 2000, pp. 62-67

Tricuspid stenosis: A rare complication of pacemaker-related endocarditis

Authors: Hagers, Y Koole, M Schoors, D Van Camp, G

Citation: Y. Hagers et al., Tricuspid stenosis: A rare complication of pacemaker-related endocarditis, J AM S ECHO, 13(1), 2000, pp. 66-68

Identification of BPESC1, a novel gene disrupted by a balanced chromosomaltranslocation, t(3;4)(q23;p15.2), in a patient with BPES

Authors: De Baere, E Fukushima, Y Small, K Udar, N Van Camp, G Verhoeven, K Palotie, A De Paepe, A Messiaen, L

Citation: E. De Baere et al., Identification of BPESC1, a novel gene disrupted by a balanced chromosomaltranslocation, t(3;4)(q23;p15.2), in a patient with BPES, GENOMICS, 68(3), 2000, pp. 296-304

Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment

Authors: Verhoeven, K Fagerheim, T Prasad, S Wayne, S De Clau, F Balemans, W Verstreken, M Schatteman, I Solem, B Van de Heyning, P Tranebjarg, L Smith, RJH Van Camp, G

Citation: K. Verhoeven et al., Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment, HUM GENET, 107(1), 2000, pp. 7-11

Audiometric analysis of a Belgian family linked to the DFNA10 locus

Authors: Verstreken, M Declau, F Schatteman, I Van Velzen, D Verhoeven, K Van Camp, G Willems, PJ Kuhweide, EW Verhaert, E D'Haese, P Wuyts, FL Van de Heyning, PH

Citation: M. Verstreken et al., Audiometric analysis of a Belgian family linked to the DFNA10 locus, AM J OTOL, 21(5), 2000, pp. 675-681

The phenotype of DFNA13/COL11A2: Nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment

Authors: Kunst, H Huybrechts, C Marres, H Huygen, P Van Camp, G Cremers, C

Citation: H. Kunst et al., The phenotype of DFNA13/COL11A2: Nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment, AM J OTOL, 21(2), 2000, pp. 181-187

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominanthearing loss, cluster in the channel pore region

Authors: Van Hauwe, P Coucke, PJ Ensink, RJ Huygen, P Cremers, CWRJ Van Camp, G

Citation: P. Van Hauwe et al., Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominanthearing loss, cluster in the channel pore region, AM J MED G, 93(3), 2000, pp. 184-187

DFNA 2, 5, 8, 12

Authors: Van Camp, G Coucke, PJ Van Hauwe, P Van Laer, L Verhoeven, K Wuyts, F Smith, RJH

Citation: G. Van Camp et al., DFNA 2, 5, 8, 12, ADV OTO-RH, 56, 2000, pp. 68-77

Risultati: 1-25 | 26-50 | 51-54