Debeer P - Search Results

1

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.

Horsnell K, Ali M, Malik S, Wilson L, Hall C, Debeer P, Crow Y. Horsnell K, et al. Among authors: debeer p. Eur J Med Genet. 2006 Sep-Oct;49(5):396-401. doi: 10.1016/j.ejmg.2006.01.004. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16497573

2

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.

Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR. Debeer P, et al. J Med Genet. 2002 Nov;39(11):852-6. doi: 10.1136/jmg.39.11.852. J Med Genet. 2002. PMID: 12414828 Free PMC article. No abstract available.

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

Limb skeletal malformations - what the HOX is going on?

Brison N, Tylzanowski P, Debeer P. Brison N, et al. Among authors: debeer p. Eur J Med Genet. 2012 Jan;55(1):1-7. doi: 10.1016/j.ejmg.2011.06.003. Epub 2011 Jul 2. Eur J Med Genet. 2012. PMID: 21782042 Review.

5

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

6

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

7

A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.

Fantini S, Vaccari G, Brison N, Debeer P, Tylzanowski P, Zappavigna V. Fantini S, et al. Among authors: debeer p. Hum Mol Genet. 2009 Mar 1;18(5):847-60. doi: 10.1093/hmg/ddn410. Epub 2008 Dec 5. Hum Mol Genet. 2009. PMID: 19060004

8

An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.

Brison N, Debeer P, Fantini S, Oley C, Zappavigna V, Luyten FP, Tylzanowski P. Brison N, et al. Among authors: debeer p. Hum Mol Genet. 2012 Jun 1;21(11):2464-75. doi: 10.1093/hmg/dds060. Epub 2012 Feb 27. Hum Mol Genet. 2012. PMID: 22373878

9

Joining the fingers: a HOXD13 Story.

Brison N, Debeer P, Tylzanowski P. Brison N, et al. Among authors: debeer p. Dev Dyn. 2014 Jan;243(1):37-48. doi: 10.1002/dvdy.24037. Dev Dyn. 2014. PMID: 24038517 Free article.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

119 results

Search Page

Filters