Smits AP - Search Results

1

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: smits ap. Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246. Am J Hum Genet. 1999. PMID: 9973291 Free PMC article.

2

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers HH, Cremers F. Berger W, et al. Hum Genet. 1995 Jan;95(1):67-70. doi: 10.1007/BF00225077. Hum Genet. 1995. PMID: 7814029

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: smits ap. 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: smits ap. 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

Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.

Yntema HG, Hamel BC, Smits AP, van Roosmalen T, van den Helm B, Kremer H, Ropers HH, Smeets DF, van Bokhoven H. Yntema HG, et al. Among authors: smits ap. J Med Genet. 1998 Oct;35(10):801-5. doi: 10.1136/jmg.35.10.801. J Med Genet. 1998. PMID: 9783701 Free PMC article.

6

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: smits ap. 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

7

High prevalence of the fra(X) syndrome cannot be explained by a high mutation rate.

Smits A, Smeets D, Hamel B, Dreesen J, van Oost B. Smits A, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):345-52. doi: 10.1002/ajmg.1320430153. Am J Med Genet. 1992. PMID: 1605209

8

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.

Smeets DF, Hamel BC, Nelen MR, Smeets HJ, Bollen JH, Smits AP, Ropers HH, van Oost BA. Smeets DF, et al. Among authors: smits ap. N Engl J Med. 1992 Mar 19;326(12):807-11. doi: 10.1056/NEJM199203193261206. N Engl J Med. 1992. PMID: 1538725 Free article. No abstract available.

9

Penetrance of fra(X) gene: influence of grandparental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male.

Smits AP, van Oost BA, de Haan AF, Hamel BC, Dreesen JC, Smeets DF. Smits AP, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):365-72. doi: 10.1002/ajmg.1320430157. Am J Med Genet. 1992. PMID: 1605214

10

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

Hamel BC, Smits AP, de Graaff E, Smeets DF, Schoute F, Eussen BH, Knight SJ, Davies KE, Assman-Hulsmans CF, Oostra BA. Hamel BC, et al. Among authors: smits ap. Am J Hum Genet. 1994 Nov;55(5):923-31. Am J Hum Genet. 1994. PMID: 7977354 Free PMC article.

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