Schrander-Stumpel CT - Search Results

1

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG. Lugtenberg D, et al. J Med Genet. 2006 Apr;43(4):362-70. doi: 10.1136/jmg.2005.036178. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169931 Free PMC article.

2

The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. J Med Genet. 2007 Sep;44(9):562-9. doi: 10.1136/jmg.2007.049510. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586838 Free PMC article.

3

X-linked mental retardation and neurological symptoms: a nosological approach.

Schrander-Stumpel CT, Höweler CJ, Fryns JP. Schrander-Stumpel CT, et al. Genet Couns. 1995;6(1):21-32. Genet Couns. 1995. PMID: 7794558 Review.

4

Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.

de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, Govaerts LC, de Vries B, Vles JS, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns JP. de Die-Smulders CE, et al. Am J Med Genet. 1995 Nov 20;59(3):369-74. doi: 10.1002/ajmg.1320590318. Am J Med Genet. 1995. PMID: 8599364 Review.

5

MASA syndrome: delineation of the clinical spectrum at prepubertal age.

Fryns JP, Schrander-Stumpel C, De Die-Smulders C, Borghgraef M, Van den Berghe H. Fryns JP, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):402-7. doi: 10.1002/ajmg.1320430161. Am J Med Genet. 1992. PMID: 1605218

6

A severe case of mandibuloacral dysplasia in a girl.

Schrander-Stumpel C, Spaepen A, Fryns JP, Dumon J. Schrander-Stumpel C, et al. Am J Med Genet. 1992 Jul 15;43(5):877-81. doi: 10.1002/ajmg.1320430525. Am J Med Genet. 1992. PMID: 1642279 Review.

7

Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity.

Schrander-Stumpel C, Fryns JP, Beemer FA, Rive FA. Schrander-Stumpel C, et al. Am J Med Genet. 1991 Mar 15;38(4):557-61. doi: 10.1002/ajmg.1320380412. Am J Med Genet. 1991. PMID: 2063898

8

MASA syndrome: new clinical features and linkage analysis using DNA probes.

Schrander-Stumpel C, Legius E, Fryns JP, Cassiman JJ. Schrander-Stumpel C, et al. J Med Genet. 1990 Nov;27(11):688-92. doi: 10.1136/jmg.27.11.688. J Med Genet. 1990. PMID: 2277384 Free PMC article.

9

Caudal deficiency sequence in 7q terminal deletion.

Schrander-Stumpel C, Schrander J, Fryns JP, Hamers G. Schrander-Stumpel C, et al. Am J Med Genet. 1988 Jul;30(3):757-61. doi: 10.1002/ajmg.1320300309. Am J Med Genet. 1988. PMID: 3055986 Review.

10

Mental retardation with pterygia, shortness and distinct facial appearance. Confirmation of a new MCA/MR syndrome.

Schrander-Stumpel C, Haspeslagh M, Fryns JP. Schrander-Stumpel C, et al. Clin Genet. 1988 Oct;34(4):279-81. doi: 10.1111/j.1399-0004.1988.tb02877.x. Clin Genet. 1988. PMID: 3233782 No abstract available.

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