Mariman EC - Search Results

1

A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome.

Simon A, Mariman EC, van der Meer JW, Drenth JP. Simon A, et al. Among authors: mariman ec. Am J Med. 2003 Feb 1;114(2):148-52. doi: 10.1016/s0002-9343(02)01429-8. Am J Med. 2003. PMID: 12586237 No abstract available.

2

Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group.

Drenth JP, Mariman EC, Van der Velde-Visser SD, Ropers HH, Van der Meer JW. Drenth JP, et al. Among authors: mariman ec. Hum Genet. 1994 Dec;94(6):616-20. doi: 10.1007/BF00206953. Hum Genet. 1994. PMID: 7989036

3

Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.

Hamel BC, Smits AP, Otten BJ, van den Helm B, Ropers HH, Mariman EC. Hamel BC, et al. Among authors: mariman ec. Am J Med Genet. 1996 Jul 12;64(1):35-41. doi: 10.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826446 Free article.

4

A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28.

Hamel BC, Kremer H, Wesby-van Swaay E, van den Helm B, Smits AP, Oostra BA, Ropers HH, Mariman EC. Hamel BC, et al. Among authors: mariman ec. Am J Med Genet. 1996 Jul 12;64(1):131-3. doi: 10.1002/(SICI)1096-8628(19960712)64:1<131::AID-AJMG22>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8826463 Free article.

5

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.

Hamel BC, Mariman EC, van Beersum SE, Schoonbrood-Lenssen AM, Ropers HH. Hamel BC, et al. Among authors: mariman ec. Am J Med Genet. 1994 Jul 15;51(4):591-7. doi: 10.1002/ajmg.1320510459. Am J Med Genet. 1994. PMID: 7943045

6

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. van Bokhoven H, et al. Among authors: mariman ec. Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246. Am J Hum Genet. 1999. PMID: 9973291 Free PMC article.

7

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.

Yntema HG, van den Helm B, Knoers NV, Smits AP, van Roosmalen T, Smeets DF, Mariman EC, van der Burgt I, van Bokhoven H, Ropers HH, Kremer H, Hamel BC. Yntema HG, et al. Among authors: mariman ec. Am J Med Genet. 1999 Jul 30;85(3):305-8. doi: 10.1002/(sici)1096-8628(19990730)85:3<305::aid-ajmg22>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10398247

8

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.

Hamel BC, Smits AP, van den Helm B, Smeets DF, Knoers NV, van Roosmalen T, Thoonen GH, Assman-Hulsmans CF, Ropers HH, Mariman EC, Kremer H. Hamel BC, et al. Among authors: mariman ec. Am J Med Genet. 1999 Jul 30;85(3):290-304. Am J Med Genet. 1999. PMID: 10398246

9

Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.

Klootwijk R, Groenen P, Schijvenaars M, Hol F, Hamel B, Straatman H, Steegers-Theunissen R, Mariman E, Franke B. Klootwijk R, et al. Am J Med Genet A. 2004 Jan 1;124A(1):40-7. doi: 10.1002/ajmg.a.20402. Am J Med Genet A. 2004. PMID: 14679585

10

Decreased methylene tetrahydrofolate reductase activity due to the 677C-->T mutation in families with spina bifida offspring.

van der Put NM, van den Heuvel LP, Steegers-Theunissen RP, Trijbels FJ, Eskes TK, Mariman EC, den Heyer M, Blom HJ. van der Put NM, et al. Among authors: mariman ec. J Mol Med (Berl). 1996 Nov;74(11):691-4. doi: 10.1007/s001090050073. J Mol Med (Berl). 1996. PMID: 8956155

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