Borghgraef M - Search Results

1

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

Frints SG, Jun L, Fryns JP, Devriendt K, Teulingkx R, Van den Berghe L, De Vos B, Borghgraef M, Chelly J, Des Portes V, Van Bokhoven H, Hamel B, Ropers HH, Kalscheuer V, Raynaud M, Moraine C, Marynen P, Froyen G. Frints SG, et al. Among authors: borghgraef m. Am J Med Genet A. 2003 Jun 15;119A(3):367-74. doi: 10.1002/ajmg.a.20195. Am J Med Genet A. 2003. PMID: 12784308

2

Clinical study and haplotype analysis in two brothers with Partington syndrome.

Frints SG, Borghgraef M, Froyen G, Marynen P, Fryns JP. Frints SG, et al. Among authors: borghgraef m. Am J Med Genet. 2002 Nov 1;112(4):361-8. doi: 10.1002/ajmg.10630. Am J Med Genet. 2002. PMID: 12376938

3

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.

Van Esch H, Zanni G, Holvoet M, Borghgraef M, Chelly J, Fryns JP, Devriendt K. Van Esch H, et al. Among authors: borghgraef m. Eur J Med Genet. 2005 Apr-Jun;48(2):145-52. doi: 10.1016/j.ejmg.2005.01.016. Epub 2005 Feb 12. Eur J Med Genet. 2005. PMID: 16053905

4

Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).

Syrrou M, Borghgraef M, Fryns JP. Syrrou M, et al. Among authors: borghgraef m. Am J Med Genet. 2001 Dec 1;104(3):199-203. Am J Med Genet. 2001. PMID: 11754044

5

Genetic counseling and mental retardation: the role of special education in a multidisciplinary approach.

Borghgraef M, Fryns JP. Borghgraef M, et al. Birth Defects Orig Artic Ser. 1992;28(1):79-84. Birth Defects Orig Artic Ser. 1992. PMID: 1340239 No abstract available.

6

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. Among authors: borghgraef m. 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

7

Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

Spaepen A, Schrander-Stumpel C, Fryns JP, de Die-Smulders C, Borghgraef M, Van den Berghe H. Spaepen A, et al. Among authors: borghgraef m. Am J Med Genet. 1991 Dec 15;41(4):517-20. doi: 10.1002/ajmg.1320410428. Am J Med Genet. 1991. PMID: 1663704

8

The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers.

Borghgraef M, Fryns JP, van den Berghe H. Borghgraef M, et al. Clin Genet. 1990 May;37(5):341-6. doi: 10.1111/j.1399-0004.1990.tb03516.x. Clin Genet. 1990. PMID: 2354547

9

Psychological findings in three children with ring 15 chromosome.

Borghgraef M, Fryns JP, Van den Berghe H. Borghgraef M, et al. J Ment Defic Res. 1988 Aug;32 ( Pt 4):337-47. doi: 10.1111/j.1365-2788.1988.tb01422.x. J Ment Defic Res. 1988. PMID: 3063822 Review.

10

New findings in the behavioral profile of young FraX females.

Borghgraef M, Umans S, Steyaert J, Legius E, Fryns JP. Borghgraef M, et al. Am J Med Genet. 1996 Aug 9;64(2):346-9. doi: 10.1002/(SICI)1096-8628(19960809)64:2<346::AID-AJMG22>3.0.CO;2-E. Am J Med Genet. 1996. PMID: 8844078

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