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Results: 1-16 |
Results: 16
Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects
Authors: Joosten, PHLJ Toepoel, M Mariman, ECM Van Zoelen, EJJ
Citation: Phlj. Joosten et al., Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects, NAT GENET, 27(2), 2001, pp. 215-217
A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects
Authors: Klootwijk, R Franke, B van der Zee, CEEM de Boer, RT Wilms, W Hol, FA Mariman, ECM
Citation: R. Klootwijk et al., A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects, HUM MOL GEN, 9(11), 2000, pp. 1615-1622
Act to resolve conflict
Authors: Mariman, ECM
Citation: Ecm. Mariman, Act to resolve conflict, BR MED J, 321(7274), 2000, pp. 1465-1465
Identification and characterization of an Xq26-q27 duplication in a familywith spina bifida and panhypopituitarism suggests the involvement of two distinct genes
Authors: Hol, FA Schepens, MT van Beersum, SEC Redolfi, E Affer, M Vezzoni, P Hamel, BCJ Karnes, PS Mariman, ECM Zucchi, I
Citation: Fa. Hol et al., Identification and characterization of an Xq26-q27 duplication in a familywith spina bifida and panhypopituitarism suggests the involvement of two distinct genes, GENOMICS, 69(2), 2000, pp. 174-181
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome
Authors: Silahtaroglu, A Hol, FA Jensen, PKA Erdel, M Duba, HC Geurds, MPA Knoers, NVAM Mariman, ECM Tumer, Z Utermann, G Wirth, J Bugge, M Tommerup, N
Citation: A. Silahtaroglu et al., Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome, EUR J HUM G, 7(1), 1999, pp. 68-76
X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3
Authors: Siderius, LE Hamel, BCJ van Bokhoven, H de Jager, F van den Helm, B Kremer, H Heineman-de Boer, JA Ropers, HH Mariman, ECM
Citation: Le. Siderius et al., X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3, AM J MED G, 85(3), 1999, pp. 216-220
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis
Authors: Hamel, BCJ Smits, APT van den Helm, B Smeets, DFCM Knoers, NVAM van Roosmalen, T Thoonen, GHJ Assman-Hulsmans, CFCH Ropers, HH Mariman, ECM Kremer, H
Citation: Bcj. Hamel et al., Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis, AM J MED G, 85(3), 1999, pp. 290-304
X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
Authors: Yntema, HG van den Helm, B Knoers, NVAM Smits, APT van Roosmalen, T Smeets, DFCM Mariman, ECM van der Burgt, I van Bokhoven, H Ropers, HH Kremer, H Hamel, BCJ
Citation: Hg. Yntema et al., X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region, AM J MED G, 85(3), 1999, pp. 305-308
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency
Authors: Rubio-Gozalbo, ME Smeitink, JAM Ruitenbeek, W Ter Laak, H Mullaart, RA Schuelke, M Mariman, ECM Sengers, RCA Gabreels, FJM
Citation: Me. Rubio-gozalbo et al., Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency, NEUROLOGY, 52(2), 1999, pp. 383-386
A new X linked neurodegenerative syndrome with metal retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region (vol 36, pg 140, 1999)
Authors: Hamel, BCJ Wesseling, P Renier, WO van den Helm, B Ropers, HH Kremer, H Mariman, ECM
Citation: Bcj. Hamel et al., A new X linked neurodegenerative syndrome with metal retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region (vol 36, pg 140, 1999), J MED GENET, 36(8), 1999, pp. 654-654
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region
Authors: Hamel, BCJ Wesseling, P Renier, WO van den Helm, B Ropers, HH Kremer, H Mariman, ECM
Citation: Bcj. Hamel et al., A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region, J MED GENET, 36(2), 1999, pp. 140-143
A limited repertoire of mutations of the luteinizing hormone (LH) receptorgene in familial and sporadic patients with male LH-independent precociouspuberty
Authors: Kremer, H Martens, JWM van Reen, M Verhoef-Post, M Wit, JM Otten, BJ Drop, SLS Delemarre-van de Waal, HA Pombo-Arias, M De Luca, F Potau, N Buckler, JMH Jansen, M Parks, JS Latif, HA Moll, GW Epping, W Saggese, G Mariman, ECM Themmen, APN Brunner, HG
Citation: H. Kremer et al., A limited repertoire of mutations of the luteinizing hormone (LH) receptorgene in familial and sporadic patients with male LH-independent precociouspuberty, J CLIN END, 84(3), 1999, pp. 1136-1140
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2
Authors: Ligtenberg, MJL Hogervorst, FBL Willems, HW Arts, PJW Brink, G Hageman, S Bosgoed, EAJ Van der Looij, E Rookus, MA Devilee, P Vos, EMAW Wigbout, G Struycken, PM Menko, FH Rutgers, EJT Hoefsloot, EH Mariman, ECM Brunner, HG Van't Veer, LJ
Citation: Mjl. Ligtenberg et al., Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2, BR J CANC, 79(9-10), 1999, pp. 1475-1478
Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27
Authors: van Bokhoven, H Jung, M Smits, APT van Beersum, S Ruschendorf, F van Steensel, M Veenstra, M Tuerlings, JHAM Mariman, ECM Brunner, HG Wienker, TF Reis, A Ropers, HH Hamel, BCJ
Citation: H. Van Bokhoven et al., Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27, AM J HU GEN, 64(2), 1999, pp. 538-546
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1
Authors: Kremer, H Lavrijsen, APM McLean, WHI Lane, EB Melchers, D Ruiter, DJ Mariman, ECM Steijlen, PM
Citation: H. Kremer et al., An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1, J INVES DER, 111(6), 1998, pp. 1224-1226
Susceptibility to spina bifida; an association study of five candidate genes
Authors: Morrison, K Papapetrou, C Hol, FA Mariman, ECM Lynch, SA Burn, J Edwards, YH
Citation: K. Morrison et al., Susceptibility to spina bifida; an association study of five candidate genes, ANN HUM GEN, 62, 1998, pp. 379-396
Risultati: 1-16 |