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Results: 1-25 | 26-31
Results: 1-25/31
Temporal bone histopathologic and genetic studies in Mohr-Tranebj rg syndrome (DFN-1)
Authors: Merchany, SN McKenna, MJ Nadol, JB Kristiansen, AG Tropitzsch, A Lindal, S Tranebjaerg, L
Citation: Sn. Merchany et al., Temporal bone histopathologic and genetic studies in Mohr-Tranebj rg syndrome (DFN-1), OTOL NEURO, 22(4), 2001, pp. 506-511
Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia
Authors: Larsen, LA Vuust, J Nystad, M Evseeva, I Van Ghelue, M Tranebjaerg, L
Citation: La. Larsen et al., Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia, EUR J HUM G, 9(9), 2001, pp. 724-727
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world
Authors: Lund, A Udd, B Juvonen, V Andersen, PM Cederquist, K Davis, M Gellera, C Kolmel, C Ronnevi, LO Sperfeld, AD Sorensen, SA Tranebjaerg, L Van Maldergem, L Watanabe, M Weber, M Yeung, L Savontaus, ML
Citation: A. Lund et al., Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world, EUR J HUM G, 9(6), 2001, pp. 431-436
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen (vol 107, pg 499, 2000)
Authors: Tyson, J Tranebjaerg, L McEntagart, M Larsen, LA Christiansen, M Whiteford, ML Bathen, J Aslaksen, B Sorland, SJ Lund, O Pembrey, ME Malcolm, S Bitner-Glindzicz, M
Citation: J. Tyson et al., Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen (vol 107, pg 499, 2000), HUM GENET, 108(1), 2001, pp. 75-75
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRPI ion channel: Implications for acquired and congenital long Q-T syndrome
Authors: Larsen, LA Andersen, PS Kanters, J Svendsen, IH Jacobsen, JR Vuust, J Wettrell, G Tranebjaerg, L Bathen, J Christiansen, M
Citation: La. Larsen et al., Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRPI ion channel: Implications for acquired and congenital long Q-T syndrome, CLIN CHEM, 47(8), 2001, pp. 1390-1395
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome
Authors: Huang, LQ Bitner-Glindzicz, M Tranebjaerg, L Tinker, A
Citation: Lq. Huang et al., A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome, CARDIO RES, 51(4), 2001, pp. 670-680
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation (vol 69, pg 228, 2001)
Authors: Dreyer, B Tranebjaerg, L Brox, V Rosenberg, T Moller, C Beneyto, M Weston, MD Kimberling, WJ Cremers, CWRJ Liu, XZ Nilssen, O
Citation: B. Dreyer et al., A common ancestral origin of the frequent and widespread 2299delG USH2A mutation (vol 69, pg 228, 2001), AM J HU GEN, 69(4), 2001, pp. 922-922
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation
Authors: Dreyer, B Tranebjaerg, L Brox, V Rosenberg, T Moller, C Beneyto, M Weston, MD Kimberling, WJ Nilssen, O
Citation: B. Dreyer et al., A common ancestral origin of the frequent and widespread 2299delG USH2A mutation, AM J HU GEN, 69(1), 2001, pp. 228-234
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Authors: Gedeon, AK Tiller, GE Le Merrer, M Heuertz, S Tranebjaerg, L Chitayat, D Robertson, S Glass, IA Savarirayan, R Cole, WG Rimoin, DL Kousseff, BG Ohashi, H Zabel, B Munnich, A Gecz, J Mulley, JC
Citation: Ak. Gedeon et al., The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1386-1397
Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
Authors: Gaspar, C Lopes-Cendes, I Hayes, S Goto, J Arvidsson, K Dias, A Silveira, I Maciel, P Coutinho, P Lima, M Zhou, YX Soong, BW Watanabe, M Giunti, P Stevanin, G Riess, O Sasaki, H Hsieh, M Nicholson, GA Brunt, E Higgins, JJ Lauritzen, M Tranebjaerg, L Volpini, V Wood, N Ranum, L Tsuji, S Brice, A Sequeiros, J Rouleau, GA
Citation: C. Gaspar et al., Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study, AM J HU GEN, 68(2), 2001, pp. 523-528
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
Authors: Ludecke, HJ Schaper, J Meinecke, P Momeni, P Gross, S von Holtum, D Hirche, H Abramowicz, MJ Albrecht, B Apacik, C Christen, HJ Claussen, U Devriendt, K Fastnacht, E Forderer, A Friedrich, U Goodship, THJ Greiwe, M Hamm, H Hennekam, RCM Hinkel, GK Hoeltzenbein, M Kayserili, H Majewski, F Mathieu, M McLeod, R Midro, AT Moog, U Nagai, T Niikawa, N Orstavik, KH Plochl, E Seitz, C Schmidtke, J Tranebjaerg, L Tsukahara, M Wittwer, B Zabel, B Gillessen-Kaesbach, G Horsthemke, B
Citation: Hj. Ludecke et al., Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III, AM J HU GEN, 68(1), 2001, pp. 81-91
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
Authors: Machado, RD Pauciulo, MW Thomson, JR Lane, KB Morgan, NV Wheeler, L Phillips, JA Newman, J Williams, D Galie, N Manes, A McNeil, K Yacoub, M Mikhail, G Rogers, P Corris, P Humbert, M Donnai, D Martensson, G Tranebjaerg, L Loyd, JE Trembath, RC Nichols, WC
Citation: Rd. Machado et al., BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension, AM J HU GEN, 68(1), 2001, pp. 92-102
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia
Authors: Lund, A Udd, B Juvonen, V Andersen, PM Cederquist, K Ronnevi, LO Sistonen, P Sorensen, SA Tranebjaerg, L Wallgren-Pettersson, C Savontaus, ML
Citation: A. Lund et al., Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia, EUR J HUM G, 8(8), 2000, pp. 631-636
Identification of novel USH2A mutations: implications for the structure ofUSH2A protein
Authors: Dreyer, B Tranebjaerg, L Rosenberg, T Weston, MD Kimberling, WJ Nilssen, O
Citation: B. Dreyer et al., Identification of novel USH2A mutations: implications for the structure ofUSH2A protein, EUR J HUM G, 8(7), 2000, pp. 500-506
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome
Authors: Tranebjaerg, L Hamel, BCJ Gabreels, FJM Renier, WO Van Ghelue, M
Citation: L. Tranebjaerg et al., A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome, EUR J HUM G, 8(6), 2000, pp. 464-467
Population genetic screening programmes: Proposed recommendations of the European Society of Human Genetics (vol 8, pg 998, 2000)
Authors: Aymc, S Bobrow, M Coviello, D Evers-Kiebooms, G Farndon, P Kaariainen, H Kristoffersson, U Pembrey, M Raeburn, S Cassiman, JJ Schmidtke, J ten Kate, L Tranebjaerg, L
Citation: S. Aymc et al., Population genetic screening programmes: Proposed recommendations of the European Society of Human Genetics (vol 8, pg 998, 2000), EUR J HUM G, 8(12), 2000, pp. 998-1000
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen
Authors: Tyson, J Tranebjaerg, L McEntagart, M Larsen, LA Christiansen, M Whiteford, ML Bathen, J Aslaksen, B Sorland, SJ Lund, O Pembrey, ME Malcolm, S Bitner-Glindzicz, M
Citation: J. Tyson et al., Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen, HUM GENET, 107(5), 2000, pp. 499-503
Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes
Authors: Malm, D Halvorsen, DS Tranebjaerg, L Sjursen, H
Citation: D. Malm et al., Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes, EUR J PED, 159(9), 2000, pp. 699-703
Health, life and disability insurance and hereditary risk for breast or colorectal cancer
Authors: Norum, J Tranebjaerg, L
Citation: J. Norum et L. Tranebjaerg, Health, life and disability insurance and hereditary risk for breast or colorectal cancer, ACTA ONCOL, 39(2), 2000, pp. 189-193
9th international workshop on fragile X syndrome and X-linked mental retardation
Authors: Fryns, JP Borghgraef, M Brown, TW Chelly, J Fisch, GS Hamel, B Hanauer, A Lacombe, D Luo, L MacPherson, JN Mandel, JL Moraine, C Mulley, J Nelson, D Oostra, B Partington, M Ramakers, GJA Ropers, HH Rousseau, F Schwartz, C Steinbach, P Stoll, C Tranebjaerg, L Turner, G Van Bokhoven, H Vianna-Morgante, A Villard, L Warren, ST
Citation: Jp. Fryns et al., 9th international workshop on fragile X syndrome and X-linked mental retardation, AM J MED G, 94(5), 2000, pp. 345-360
X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome)
Authors: Tranebjaerg, L Jensen, PKA van Ghelue, M
Citation: L. Tranebjaerg et al., X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome), ADV OTO-RH, 56, 2000, pp. 176-180
Jervell and Lange-Nielsen syndrome: A Norwegian perspective
Authors: Tranebjaerg, L Bathen, J Tyson, J Bitner-Glindzicz, M
Citation: L. Tranebjaerg et al., Jervell and Lange-Nielsen syndrome: A Norwegian perspective, AM J MED G, 89(3), 1999, pp. 137-146
Eighth International Workshop on the Fragile X Syndrome and X-linked Mental Retardation, August 16-22, 1997
Authors: Holden, JJA Percy, M Allingham-Hawkins, D Brown, WT Chiurazzi, P Fisch, G Gane, L Gunter, C Hagerman, R Jenkins, EC Kooy, RF Lubs, HA Murray, A Neri, G Schwartz, C Tranebjaerg, L Villard, L Willems, PJ
Citation: Jja. Holden et al., Eighth International Workshop on the Fragile X Syndrome and X-linked Mental Retardation, August 16-22, 1997, AM J MED G, 83(4), 1999, pp. 221-236
XLMR genes: Update 1998
Authors: Lubs, H Chiurazzi, P Arena, J Schwartz, C Tranebjaerg, L Neri, G
Citation: H. Lubs et al., XLMR genes: Update 1998, AM J MED G, 83(4), 1999, pp. 237-247
A new gene (DYX3) for dyslexia is located on chromosome 2
Authors: Fagerheim, T Raeymaekers, P Tonnessen, FE Pedersen, M Tranebjaerg, L Lubs, HA
Citation: T. Fagerheim et al., A new gene (DYX3) for dyslexia is located on chromosome 2, J MED GENET, 36(9), 1999, pp. 664-669
Risultati: 1-25 | 26-31