Fryns JP - Search Results

1

GATA3 haplo-insufficiency causes human HDR syndrome.

Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. Van Esch H, et al. Among authors: fryns jp. Nature. 2000 Jul 27;406(6794):419-22. doi: 10.1038/35019088. Nature. 2000. PMID: 10935639

2

Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia.

Groenen PM, Garcia E, Debeer P, Devriendt K, Fryns JP, Van de Ven WJ. Groenen PM, et al. Among authors: fryns jp. Genomics. 1996 Dec 1;38(2):141-8. doi: 10.1006/geno.1996.0609. Genomics. 1996. PMID: 8954795

3

DiGeorge syndrome and unilateral symbrachydactyly.

Devriendt K, De Smet L, De Boeck K, Fryns JP. Devriendt K, et al. Among authors: fryns jp. Genet Couns. 1997;8(4):345-7. Genet Couns. 1997. PMID: 9457506

4

Vesico-ureteral reflux: a genetic condition?

Devriendt K, Groenen P, Van Esch H, van Dijck M, Van de Ven W, Fryns JP, Proesmans W. Devriendt K, et al. Among authors: fryns jp. Eur J Pediatr. 1998 Apr;157(4):265-71. doi: 10.1007/s004310050808. Eur J Pediatr. 1998. PMID: 9578958 Review.

5

Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia.

Groenen PM, Vanderlinden G, Devriendt K, Fryns JP, Van de Ven WJ. Groenen PM, et al. Among authors: fryns jp. Genomics. 1998 Apr 15;49(2):218-29. doi: 10.1006/geno.1998.5254. Genomics. 1998. PMID: 9598309

6

The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.

Van Esch H, Groenen P, Fryns JP, Van de Ven W, Devriendt K. Van Esch H, et al. Among authors: fryns jp. Genet Couns. 1999;10(1):59-65. Genet Couns. 1999. PMID: 10191430

7

Partial DiGeorge syndrome in two patients with a 10p rearrangement.

Van Esch H, Groenen P, Daw S, Poffyn A, Holvoet M, Scambler P, Fryns JP, Van de Ven W, Devriendt K. Van Esch H, et al. Among authors: fryns jp. Clin Genet. 1999 Apr;55(4):269-76. doi: 10.1034/j.1399-0004.1999.550410.x. Clin Genet. 1999. PMID: 10361989

8

A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).

Lukusa T, Devriendt K, Fryns JP. Lukusa T, et al. Among authors: fryns jp. Ann Genet. 1999;42(2):91-4. Ann Genet. 1999. PMID: 10434122

9

Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications.

Swillen A, Vogels A, Devriendt K, Fryns JP. Swillen A, et al. Among authors: fryns jp. Am J Med Genet. 2000 Summer;97(2):128-35. doi: 10.1002/1096-8628(200022)97:2<128::aid-ajmg4>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11180220 Review.

10

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.

Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van Den Oord JJ, Verhoef GE, Boogaerts MA, Fryns JP, You D, Rosen MK, Vandenberghe P. Devriendt K, et al. Among authors: fryns jp. Nat Genet. 2001 Mar;27(3):313-7. doi: 10.1038/85886. Nat Genet. 2001. PMID: 11242115

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