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Results: 1-22 |
Results: 22
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
Authors: Grohmann, K Schuelke, M Diers, A Hoffmann, K Lucke, B Adams, C Bertini, E Leonhardt-Horti, H Muntoni, F Ouvrier, R Pfeufer, A Rossi, R Van Maldergem, L Wilmshurst, JM Wienker, TR Sendtner, M Rudnik-Schoneborn, S Zerres, K Hubner, C
Citation: K. Grohmann et al., Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1, NAT GENET, 29(1), 2001, pp. 75-77
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
Authors: Magre, J Delepine, M Khallouf, E Gedde-Dahl, T Van Maldergem, L Sobel, E Papp, J Meier, M Megarbane, A Lathrop, M Capeau, J
Citation: J. Magre et al., Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13, NAT GENET, 28(4), 2001, pp. 365-370
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15
Authors: Runte, M Farber, C Lich, C Zeschnigk, M Buchholz, T Smith, A Van Maldergem, L Burger, J Muscatelli, F Gillessen-Kaesbach, G Horsthemke, B Buiting, K
Citation: M. Runte et al., Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15, EUR J HUM G, 9(7), 2001, pp. 519-526
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
Major decrease in the incidence of trisomy21 at birth in south Belgium: mass impact of triple test?
Authors: Verloes, A Gillerot, Y Van Maldergem, L Schoos, R Herens, C Jamar, M Dideberg, V Lesenfants, S Koulischer, L
Citation: A. Verloes et al., Major decrease in the incidence of trisomy21 at birth in south Belgium: mass impact of triple test?, EUR J HUM G, 9(1), 2001, pp. 1-4
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
Authors: Nishimura, DY Searby, CC Carmi, R Elbedour, K Van Maldergem, L Fulton, AB Lam, BL Powell, BR Swiderski, RE Bugge, KE Haider, NB Kwitek-Black, AE Ying, LH Duhl, DM Gorman, SW Heon, E Iannaccone, A Bonneau, D Biesecker, LG Jacobson, SG Stone, EM Sheffield, VC
Citation: Dy. Nishimura et al., Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2), HUM MOL GEN, 10(8), 2001, pp. 865-874
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
Authors: De Baere, E Dixon, MJ Small, KW Jabs, EW Leroy, BP Devriendt, K Gillerot, Y Mortier, G Meire, F Van Maldergem, L Courtens, W Hjalgrim, H Huang, S Liebaers, I Van Regemorter, N Touraine, P Praphanphoj, V Verloes, A Udar, N Yellore, V Chalukya, M Yelchits, S De Paepe, A Kuttenn, F Fellous, M Veitia, R Messiaen, L
Citation: E. De Baere et al., Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation, HUM MOL GEN, 10(15), 2001, pp. 1591-1600
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
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenataldiagnosis
Authors: Sprecher, E Chavanas, S DiGiovanna, JJ Amin, S Nielsen, K Prendiville, JS Silverman, R Esterly, NB Spraker, MK Guelig, E de Luna, ML Williams, ML Buehler, B Siegfried, EC Van Maldergem, L Pfendner, E Bale, SJ Uitto, J Hovnanian, A Richard, G
Citation: E. Sprecher et al., The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenataldiagnosis, J INVES DER, 117(2), 2001, pp. 179-187
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease
Authors: Janssens, K Gershoni-Baruch, R Guanabens, N Migone, N Ralston, S Bonduelle, M Lissens, W Van Maldergem, L Vanhoenacker, F Verbruggen, L Van Hul, W
Citation: K. Janssens et al., Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease, NAT GENET, 26(3), 2000, pp. 273-275
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings
Authors: Van Maldergem, L Tuerlinckx, D Wanders, RJ Vianey-Saban, C Van Hoof, F Martin, JJ Fourneau, C Gillerot, Y Bachy, A
Citation: L. Van Maldergem et al., Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings, EUR J PED, 159(1-2), 2000, pp. 108-112
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
Authors: de Koning, TJ Jaeken, J Pineda, M Van Maldergem, L Poll-The, BT van der Knaap, MS
Citation: Tj. De Koning et al., Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency, NEUROPEDIAT, 31(6), 2000, pp. 287-292
Atypical features in Angelman syndrome due to imprinting defect or uniparental disomy of chromosome 15
Authors: Dan, B Boyd, SG Christiaens, F Courtens, W Van Maldergem, L Kahn, A
Citation: B. Dan et al., Atypical features in Angelman syndrome due to imprinting defect or uniparental disomy of chromosome 15, NEUROPEDIAT, 31(2), 2000, pp. 109-110
Association of cleft palate with Sprengel anomaly: Confirmation of the Hodgson-Chiu syndrome
Authors: Monier, A Van Maldergem, L Stevens, R
Citation: A. Monier et al., Association of cleft palate with Sprengel anomaly: Confirmation of the Hodgson-Chiu syndrome, AM J MED G, 95(4), 2000, pp. 401-403
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13
Authors: Janssens, K Gershoni-Baruch, R Van Hul, E Brik, R Guanabens, N Migone, N Verbruggen, LA Ralston, SH Bonduelle, M Van Maldergem, L Vanhoenacker, F Van Hul, W
Citation: K. Janssens et al., Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13, J MED GENET, 37(4), 2000, pp. 245-249
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
Authors: Glaser, RL Jiang, W Boyadjiev, SA Tran, AK Zachary, AA Van Maldergem, L Johnson, M Walsh, S Oldridge, M Wall, SA Wilkie, AOM Jabs, EW
Citation: Rl. Glaser et al., Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome, AM J HU GEN, 66(3), 2000, pp. 768-777
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome
Authors: Munroe, PB Olgunturk, RO Fryns, JP Van Maldergem, L Ziereisen, F Yuksel, B Gardiner, RM Chung, E
Citation: Pb. Munroe et al., Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome, NAT GENET, 21(1), 1999, pp. 142-144
Genome-wide scan for autism susceptibility genes (vol 8, pg 805, 1999)
Authors: Philippe, A Martinez, M Guilloud-Bataille, M Gillberg, C Rastam, M Sponheim, E Coleman, M Zappella, M Aschauer, H Van Maldergem, L Penet, C Feingold, J Brice, A Leboyer, M
Citation: A. Philippe et al., Genome-wide scan for autism susceptibility genes (vol 8, pg 805, 1999), HUM MOL GEN, 8(7), 1999, pp. 1353-1353
Prenatal ultrasound detection of congenital cataract in trisomy 21
Authors: Romain, M Awoust, J Dugauquier, C Van Maldergem, L
Citation: M. Romain et al., Prenatal ultrasound detection of congenital cataract in trisomy 21, PRENAT DIAG, 19(8), 1999, pp. 780-782
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene isassociated with a clinically distinct Charcot-Marie-Tooth phenotype
Authors: De Jonghe, P Timmerman, V Ceuterick, C Nelis, E De Vriendt, E Lofgren, A Vercruyssen, A Verellen, C Van Maldergem, L Martin, JJ Van Broeckhoven, C
Citation: P. De Jonghe et al., The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene isassociated with a clinically distinct Charcot-Marie-Tooth phenotype, BRAIN, 122, 1999, pp. 281-290
The spectrum of mutations in TBX3: Genotype phenotype relationship in ulnar-mammary syndrome
Authors: Bamshad, M Le, T Watkins, WS Dixon, ME Kramer, BE Roeder, AD Carey, JC Root, S Schinzel, A Van Maldergem, L Gardner, RJM Lin, RC Seidman, CE Seidman, JG Wallerstein, R Moran, E Sutphen, R Campbell, CE Jorde, LB
Citation: M. Bamshad et al., The spectrum of mutations in TBX3: Genotype phenotype relationship in ulnar-mammary syndrome, AM J HU GEN, 64(6), 1999, pp. 1550-1562
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study
Authors: Hardcastle, AJ Thiselton, DL Van Maldergem, L Saha, BK Jay, M Plant, C Taylor, R Bird, AC Bhattacharya, S
Citation: Aj. Hardcastle et al., Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study, AM J HU GEN, 64(4), 1999, pp. 1210-1215
Risultati: 1-22 |