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Results: 1-22 |
Results: 22
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination
Authors: Irwin, SA Patel, B Idupulapati, M Harris, JB Crisostomo, RA Larsen, BP Kooy, F Willems, PJ Cras, P Kozlowski, PB Swain, RA Weiler, IJ Greenough, WT
Citation: Sa. Irwin et al., Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination, AM J MED G, 98(2), 2001, pp. 161-167
Identification of mutations in the MSX2 homeobox gene in families affectedwith foramina parietalia permagna
Authors: Wuyts, W Reardon, W Preis, S Homfray, T Rasore-Quartino, A Christians, H Willems, PJ Van Hul, W
Citation: W. Wuyts et al., Identification of mutations in the MSX2 homeobox gene in families affectedwith foramina parietalia permagna, HUM MOL GEN, 9(8), 2000, pp. 1251-1255
Introduction of a FMR1 transgene in the fragile X knockout mouse.
Authors: Bakker, CE Kooy, RF D'Hooge, R Tamanini, F Willemsen, R Nieuwenhuizen, I De Vries, BBA Reyniers, E Hoogeveen, AT Willems, PJ De Deyn, PP Oostra, BA
Citation: Ce. Bakker et al., Introduction of a FMR1 transgene in the fragile X knockout mouse., NEUROSC R C, 26(3), 2000, pp. 265-277
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
Unexpected life-threatening complications in Kabuki syndrome
Authors: van Haelst, MM Brooks, AS Hoogeboom, J Wessels, MW Tibboel, D de Jongste, JC den Hollander, JC Bongers-Schokking, JJ Niermeijer, MF Willems, PJ
Citation: Mm. Van Haelst et al., Unexpected life-threatening complications in Kabuki syndrome, AM J MED G, 94(2), 2000, pp. 170-173
Mechanism of disease: Genetic causes of hearing loss.
Authors: Willems, PJ
Citation: Pj. Willems, Mechanism of disease: Genetic causes of hearing loss., N ENG J MED, 342(15), 2000, pp. 1101-1109
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3)
Authors: Holinski-Feder, E Reyniers, E Uhrig, S Golla, A Wauters, J Kroisel, P Bossuyt, P Rost, I Jedele, K Zierler, H Schwab, S Wildenauer, D Speicher, MR Willems, PJ Meitinger, T Kooy, RF
Citation: E. Holinski-feder et al., Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3), AM J HU GEN, 66(1), 2000, pp. 16-25
Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging
Authors: Kooy, RF Reyniers, E Verhoye, M Sijbers, J Bakker, CE Oostra, BA Willems, PJ Van der Linden, A
Citation: Rf. Kooy et al., Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging, EUR J HUM G, 7(5), 1999, pp. 526-532
Hearing impairment and neurological dysfunction associated with a mutationin the mitochondrial tRNA(Ser(UCN)) gene
Authors: Verhoeven, K Ensink, RJH Tiranti, V Huygen, PLM Johnson, DF Schatteman, I Van Laer, L Verstreken, M Van de Heyning, P Fischel-Ghodsian, N Zeviani, M Cremers, CWRJ Willems, PJ Van Camp, G
Citation: K. Verhoeven et al., Hearing impairment and neurological dysfunction associated with a mutationin the mitochondrial tRNA(Ser(UCN)) gene, EUR J HUM G, 7(1), 1999, pp. 45-51
Spectrum of mutations in fucosidosis
Authors: Willems, PJ Seo, HC Coucke, P Tonlorenzi, R O'Brien, JS
Citation: Pj. Willems et al., Spectrum of mutations in fucosidosis, EUR J HUM G, 7(1), 1999, pp. 60-67
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
Authors: 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
Citation: Pj. Coucke et al., Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families, HUM MOL GEN, 8(7), 1999, pp. 1321-1328
The spectrum of mutations in UBE3A causing Angelman syndrome
Authors: Fang, P Lev-Lehman, E Tsai, TF Matsuura, T Benton, CS Sutcliffe, JS Christian, SL Kubota, T Halley, DJ Meijers-Heijboer, H Langlois, S Graham, JM Beuten, J Willems, PJ Ledbetter, DH Beaudet, AL
Citation: P. Fang et al., The spectrum of mutations in UBE3A causing Angelman syndrome, HUM MOL GEN, 8(1), 1999, pp. 129-135
Refined physical mapping and genomic structure of the EXTL1 gene
Authors: Wuyts, W Spieker, N Van Roy, N De Boulle, K De Paepe, A Willems, PJ Van Hul, W Versteeg, R Speleman, F
Citation: W. Wuyts et al., Refined physical mapping and genomic structure of the EXTL1 gene, CYTOG C GEN, 86(3-4), 1999, pp. 267-270
CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation
Authors: Kooy, RF Reyniers, E Storm, K Vits, L van Velzen, D de Ruiter, PE Brinkmann, AO de Paepe, A Willems, PJ
Citation: Rf. Kooy et al., CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation, AM J MED G, 85(3), 1999, pp. 209-213
Postmortem examination of two fragile X brothers with an FMR1 full mutation
Authors: Reyniers, E Martin, JJ Cras, P Van Marck, E Handig, I Jorens, HZJ Oostra, BA Kooy, RF Willems, PJ
Citation: E. Reyniers et al., Postmortem examination of two fragile X brothers with an FMR1 full mutation, AM J MED G, 84(3), 1999, pp. 245-249
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
A gene for autosomal dominant hearing impairment (DFNA14) maps to a regionon chromosome 4p16.3 that does not overlap the DFNA6 locus
Authors: Van Camp, G Kunst, H Flothmann, K McGuirt, W Wauters, J Marres, H Verstreken, M Bespalova, IN Burmeister, M Van de Heyning, PH Smith, RJH Willems, PJ Cremers, CWRJ Lesperance, MM
Citation: G. Van Camp et al., A gene for autosomal dominant hearing impairment (DFNA14) maps to a regionon chromosome 4p16.3 that does not overlap the DFNA6 locus, J MED GENET, 36(7), 1999, pp. 532-536
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome
Authors: 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
Citation: Pj. Coucke et al., Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome, J MED GENET, 36(6), 1999, pp. 475-477
Noninvasive test for fragile X syndrome, using hair root analysis
Authors: Willemsen, R Anar, B Otero, YD de Vries, BBA Hilhorst-Hofstee, Y Smits, A van Looveren, E Willems, PJ Galjaard, H Oostra, BA
Citation: R. Willemsen et al., Noninvasive test for fragile X syndrome, using hair root analysis, AM J HU GEN, 65(1), 1999, pp. 98-103
Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II
Authors: Hendrickx, J Lee, P Keating, JP Carton, D Sardharwalla, EB Tuchman, M Baussan, C Willems, PJ
Citation: J. Hendrickx et al., Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II, AM J HU GEN, 64(6), 1999, pp. 1541-1549
Localization of the gene for sclerosteosis to the van Buchem Disease-gene region on chromosome 17q12-q21
Authors: Balemans, W Van Den Ende, J Paes-Alves, AF Dikkers, FG Willems, PJ Vanhoenacker, F de Almeida-Melo, N Alves, CF Stratakis, CA Hill, SC Van Hul, W
Citation: W. Balemans et al., Localization of the gene for sclerosteosis to the van Buchem Disease-gene region on chromosome 17q12-q21, AM J HU GEN, 64(6), 1999, pp. 1661-1669
A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic,midfrequency, prelingual and nonprogressive sensorineural hearing loss
Authors: Govaerts, PJ De Ceulaer, G Daemers, K Verhoeven, K Van Camp, G Schatteman, I Verstreken, M Willems, PJ Somers, T Offeciers, FE
Citation: Pj. Govaerts et al., A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic,midfrequency, prelingual and nonprogressive sensorineural hearing loss, AM J OTOL, 19(6), 1998, pp. 718-723
Risultati: 1-22 |