Geurds MP - Search Results

1

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.

Silahtaroglu A, Hol FA, Jensen PK, Erdel M, Duba HC, Geurds MP, Knoers NV, Mariman EC, Tümer Z, Utermann G, Wirth J, Bugge M, Tommerup N. Silahtaroglu A, et al. Among authors: geurds mp. Eur J Hum Genet. 1999 Jan;7(1):68-76. doi: 10.1038/sj.ejhg.5200260. Eur J Hum Genet. 1999. PMID: 10094193

2

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.

Hol FA, Hamel BC, Geurds MP, Hansmann I, Nabben FA, Daniëls O, Mariman EC. Hol FA, et al. Among authors: geurds mp. Hum Genet. 1995 Jun;95(6):687-90. doi: 10.1007/BF00209488. Hum Genet. 1995. PMID: 7789956 Free article.

3

Improving the polymorphism content of the 3' UTR of the human IGF2R gene.

Hol FA, Geurds MP, Hamel BC, Mariman EC. Hol FA, et al. Among authors: geurds mp. Hum Mol Genet. 1992 Aug;1(5):347. doi: 10.1093/hmg/1.5.347. Hum Mol Genet. 1992. PMID: 1303214 No abstract available.

4

Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family.

Hol FA, Geurds MP, Jensson O, Hamel BC, Moore GE, Newton R, Mariman EC. Hol FA, et al. Among authors: geurds mp. Hum Genet. 1994 Apr;93(4):452-6. doi: 10.1007/BF00201674. Hum Genet. 1994. PMID: 8168816

5

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Hol FA, Hamel BC, Geurds MP, Mullaart RA, Barr FG, Macina RA, Mariman EC. Hol FA, et al. Among authors: geurds mp. J Med Genet. 1995 Jan;32(1):52-6. doi: 10.1136/jmg.32.1.52. J Med Genet. 1995. PMID: 7897628 Free PMC article.

6

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

Hol FA, Geurds MP, Chatkupt S, Shugart YY, Balling R, Schrander-Stumpel CT, Johnson WG, Hamel BC, Mariman EC. Hol FA, et al. Among authors: geurds mp. J Med Genet. 1996 Aug;33(8):655-60. doi: 10.1136/jmg.33.8.655. J Med Genet. 1996. PMID: 8863157 Free PMC article.

7

Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).

Hol FA, Geurds MP, Cremers CW, Hamel BC, Mariman EC. Hol FA, et al. Among authors: geurds mp. Hum Mutat. 1998;Suppl 1:S145-7. doi: 10.1002/humu.1380110149. Hum Mutat. 1998. PMID: 9452070 No abstract available.

8

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.

Hol FA, van der Put NM, Geurds MP, Heil SG, Trijbels FJ, Hamel BC, Mariman EC, Blom HJ. Hol FA, et al. Among authors: geurds mp. Clin Genet. 1998 Feb;53(2):119-25. doi: 10.1111/j.1399-0004.1998.tb02658.x. Clin Genet. 1998. PMID: 9611072

9

Absence of linkage between familial neural tube defects and PAX3 gene.

Chatkupt S, Hol FA, Shugart YY, Geurds MP, Stenroos ES, Koenigsberger MR, Hamel BC, Johnson WG, Mariman EC. Chatkupt S, et al. Among authors: geurds mp. J Med Genet. 1995 Mar;32(3):200-4. doi: 10.1136/jmg.32.3.200. J Med Genet. 1995. PMID: 7783169 Free PMC article.

10

Production of native creatine kinase B in insect cells using a baculovirus expression vector.

de Kok YJ, Geurds MP, Sistermans EA, Usmany M, Vlak JM, Wieringa B. de Kok YJ, et al. Among authors: geurds mp. Mol Cell Biochem. 1995 Feb 9;143(1):59-65. doi: 10.1007/BF00925927. Mol Cell Biochem. 1995. PMID: 7776959 Free article.

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