Fryns JP - Search Results

1

Clinical and molecular characterization of patients with distal 11q deletions.

Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM Jr, Kousseff B, Mattina T, et al. Penny LA, et al. Among authors: fryns jp. Am J Hum Genet. 1995 Mar;56(3):676-83. Am J Hum Genet. 1995. PMID: 7887422 Free PMC article.

2

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Beysen D, et al. Among authors: fryns jp. Am J Hum Genet. 2005 Aug;77(2):205-18. doi: 10.1086/432083. Epub 2005 Jun 16. Am J Hum Genet. 2005. PMID: 15962237 Free PMC article.

3

Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.

Schrander-Stumpel C, Höweler C, Jones M, Sommer A, Stevens C, Tinschert S, Israel J, Fryns JP. Schrander-Stumpel C, et al. Among authors: fryns jp. Am J Med Genet. 1995 May 22;57(1):107-16. doi: 10.1002/ajmg.1320570122. Am J Med Genet. 1995. PMID: 7645588

4

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Bröndum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR. Devriendt K, et al. Among authors: fryns jp. Am J Hum Genet. 1999 Apr;64(4):1119-26. doi: 10.1086/302330. Am J Hum Genet. 1999. PMID: 10090897 Free PMC article.

5

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.

Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM. Shoichet SA, et al. Among authors: fryns jp. Am J Hum Genet. 2003 Dec;73(6):1341-54. doi: 10.1086/380309. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628291 Free PMC article.

6

Distal 11q deletion: a specific clinical entity.

Fryns JP, Kleczkowska A, Smeets E, Van den Berghe H. Fryns JP, et al. Helv Paediatr Acta. 1987 Oct;42(2-3):191-4. Helv Paediatr Acta. 1987. PMID: 3692885

7

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. Among authors: fryns jp. Am J Med Genet. 1995 Nov 20;59(3):369-74. doi: 10.1002/ajmg.1320590318. Am J Med Genet. 1995. PMID: 8599364 Review.

8

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

Veltman JA, Jonkers Y, Nuijten I, Janssen I, van der Vliet W, Huys E, Vermeesch J, Van Buggenhout G, Fryns JP, Admiraal R, Terhal P, Lacombe D, van Kessel AG, Smeets D, Schoenmakers EF, van Ravenswaaij-Arts CM. Veltman JA, et al. Among authors: fryns jp. Am J Hum Genet. 2003 Jun;72(6):1578-84. doi: 10.1086/375695. Epub 2003 May 9. Am J Hum Genet. 2003. PMID: 12740760 Free PMC article.

9

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

Froyen G, Bauters M, Boyle J, Van Esch H, Govaerts K, van Bokhoven H, Ropers HH, Moraine C, Chelly J, Fryns JP, Marynen P, Gecz J, Turner G. Froyen G, et al. Among authors: fryns jp. Hum Genet. 2007 Jun;121(5):539-47. doi: 10.1007/s00439-007-0343-1. Epub 2007 Feb 28. Hum Genet. 2007. PMID: 17333282

10

Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome.

Zhang J, Marynen P, Devriendt K, Fryns JP, Van den Berghe H, Cassiman JJ. Zhang J, et al. Among authors: fryns jp. Hum Genet. 1989 Nov;83(4):359-63. doi: 10.1007/BF00291381. Hum Genet. 1989. PMID: 2807276

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