Fryns JP - Search Results

1

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: fryns jp. 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

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: fryns jp. Am J Med Genet. 2002 Nov 1;112(4):361-8. doi: 10.1002/ajmg.10630. Am J Med Genet. 2002. PMID: 12376938

3

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: fryns jp. 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

4

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.

Van Esch H, Backx L, Pijkels E, Fryns JP. Van Esch H, et al. Among authors: fryns jp. Eur J Med Genet. 2009 Mar-Jun;52(2-3):153-6. doi: 10.1016/j.ejmg.2009.02.003. Epub 2009 Feb 21. Eur J Med Genet. 2009. PMID: 19233321

5

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).

Balikova I, Vermeesch JR, Fryns JP, Van Esch H. Balikova I, et al. Among authors: fryns jp. Eur J Med Genet. 2009 Jul-Aug;52(4):260-1. doi: 10.1016/j.ejmg.2009.01.001. Epub 2009 Jan 14. Eur J Med Genet. 2009. PMID: 19272308

6

Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism.

Devriendt K, Van den Berghe H, Fryns JP. Devriendt K, et al. Among authors: fryns jp. Clin Genet. 1996 Jan;49(1):6-9. doi: 10.1111/j.1399-0004.1996.tb04316.x. Clin Genet. 1996. PMID: 8721564

7

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.

Claeys I, Holvoet M, Eyskens B, Adriaensens P, Gewillig M, Fryns JP, Devriendt K. Claeys I, et al. Among authors: fryns jp. Am J Med Genet. 1997 Sep 19;74(5):515-20. doi: 10.1002/(sici)1096-8628(19970919)74:5<515::aid-ajmg12>3.0.co;2-f. Am J Med Genet. 1997. PMID: 9342203

8

Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).

Claes S, Vogels A, Holvoet M, Devriendt K, Raeymaekers P, Cassiman JJ, Fryns JP. Claes S, et al. Among authors: fryns jp. Am J Med Genet. 1997 Dec 31;73(4):474-9. Am J Med Genet. 1997. PMID: 9415477

9

Triplication of distal chromosome 10q.

Devriendt K, Matthijs G, Holvoet M, Schoenmakers E, Fryns JP. Devriendt K, et al. Among authors: fryns jp. J Med Genet. 1999 Mar;36(3):242-5. J Med Genet. 1999. PMID: 10204854 Free PMC article.

10

Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1.

Claes S, Volcke P, Devriendt K, Holvoet M, Raeymaekers P, Cassiman JJ, Fryns JP. Claes S, et al. Among authors: fryns jp. Am J Med Genet. 1999 Jul 30;85(3):283-7. Am J Med Genet. 1999. PMID: 10398244

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