Fryns JP - Search Results

1

Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia.

Groenen PM, Garcia E, Thoelen R, Aly M, Schoenmakers EF, Devriendt K, Fryns JP, Van de Ven WJ. Groenen PM, et al. Among authors: fryns jp. Cytogenet Cell Genet. 1996;75(4):210-5. doi: 10.1159/000134485. Cytogenet Cell Genet. 1996. PMID: 9067426

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

Chromosome 22q11 deletion presenting as the Potter sequence.

Devriendt K, Moerman P, Van Schoubroeck D, Vandenberghe K, Fryns JP. Devriendt K, et al. Among authors: fryns jp. J Med Genet. 1997 May;34(5):423-5. doi: 10.1136/jmg.34.5.423. J Med Genet. 1997. PMID: 9152843 Free PMC article.

4

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

5

Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly.

Debeer P, Schoenmakers EF, Thoelen R, Fryns JP, Van de Ven WJ. Debeer P, et al. Among authors: fryns jp. Cytogenet Cell Genet. 1998;81(3-4):229-34. doi: 10.1159/000015036. Cytogenet Cell Genet. 1998. PMID: 9730609

6

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.

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

Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.

Debeer P, Schoenmakers EF, Thoelen R, Holvoet M, Kuittinen T, Fabry G, Fryns JP, Goodman FR, Van de Ven WJ. Debeer P, et al. Among authors: fryns jp. Eur J Hum Genet. 2000 Aug;8(8):561-70. doi: 10.1038/sj.ejhg.5200497. Eur J Hum Genet. 2000. PMID: 10951517

9

Recurrent involvement of chromosomal region 6q21 in heterotaxy.

Peeters H, Debeer P, Groenen P, Van Esch H, Vanderlinden G, Eyskens B, Mertens L, Gewillig M, Van de Ven W, Fryns JP, Devriendt K. Peeters H, et al. Among authors: fryns jp. Am J Med Genet. 2001 Sep 15;103(1):44-7. doi: 10.1002/ajmg.1499. Am J Med Genet. 2001. PMID: 11562933

10

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

Castermans D, Vermeesch JR, Fryns JP, Steyaert JG, Van de Ven WJ, Creemers JW, Devriendt K. Castermans D, et al. Among authors: fryns jp. Eur J Hum Genet. 2007 Apr;15(4):422-31. doi: 10.1038/sj.ejhg.5201785. Epub 2007 Feb 7. Eur J Hum Genet. 2007. PMID: 17290275

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