Debeer P - Search Results

1

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P. Dimitrov BI, et al. Among authors: debeer p. J Med Genet. 2010 Feb;47(2):103-11. doi: 10.1136/jmg.2008.065888. Epub 2009 Jul 6. J Med Genet. 2010. PMID: 19584065

2

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.

Dimitrov BI, Voet T, De Smet L, Vermeesch JR, Devriendt K, Fryns JP, Debeer P. Dimitrov BI, et al. Among authors: debeer p. J Med Genet. 2010 Aug;47(8):569-74. doi: 10.1136/jmg.2009.073833. Epub 2010 Jul 7. J Med Genet. 2010. PMID: 20610440

3

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

Dimitrov B, Balikova I, de Ravel T, Van Esch H, De Smedt M, Baten E, Vermeesch JR, Bradinova I, Simeonov E, Devriendt K, Fryns JP, Debeer P. Dimitrov B, et al. Among authors: debeer p. J Med Genet. 2011 Feb;48(2):98-104. doi: 10.1136/jmg.2010.079491. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068127

4

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: debeer p. Am J Med Genet. 2001 Sep 15;103(1):44-7. doi: 10.1002/ajmg.1499. Am J Med Genet. 2001. PMID: 11562933

5

Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11).

Debeer P, Mols R, Huysmans C, Devriendt K, Van de Ven WJ, Fryns JP. Debeer P, et al. Clin Genet. 2002 Nov;62(5):410-4. doi: 10.1034/j.1399-0004.2002.620510.x. Clin Genet. 2002. PMID: 12431258

6

Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family.

Debeer P, Pykels E, Lammens J, Devriendt K, Fryns JP. Debeer P, et al. Am J Med Genet A. 2003 Jun 1;119A(2):188-93. doi: 10.1002/ajmg.a.20072. Am J Med Genet A. 2003. PMID: 12749062

7

Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.

Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M. Debeer P, et al. Am J Med Genet A. 2003 Jul 1;120A(1):49-58. doi: 10.1002/ajmg.a.20018. Am J Med Genet A. 2003. PMID: 12794692

8

Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation.

Debeer P, Huysmans C, Van de Ven WJ, Fryns JP, Devriendt K. Debeer P, et al. Am J Med Genet A. 2005 Apr 30;134(3):318-20. doi: 10.1002/ajmg.a.30645. Am J Med Genet A. 2005. PMID: 15736221

9

Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects.

Debeer P, de Ravel TJ, Devriendt K, Fryns JP, Huysmans C, Van de Ven WJ. Debeer P, et al. Am J Med Genet. 2002 Sep 1;111(4):455-6. doi: 10.1002/ajmg.10583. Am J Med Genet. 2002. PMID: 12210313 No abstract available.

10

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP. Debeer P, et al. Eur J Med Genet. 2005 Oct-Dec;48(4):377-87. doi: 10.1016/j.ejmg.2005.05.003. Eur J Med Genet. 2005. PMID: 16378922

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