Désir J - Search Results

1

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.

Désir J, Cassart M, Donner C, Coucke P, Abramowicz M, Mortier G. Désir J, et al. Am J Med Genet A. 2012 Aug;158A(8):1948-52. doi: 10.1002/ajmg.a.35301. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495950

2

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data.

Tunca Y, Vurucu S, Parma J, Akin R, Désir J, Baser I, Ergun A, Abramowicz M. Tunca Y, et al. Among authors: desir j. Prenat Diagn. 2006 May;26(5):449-53. doi: 10.1002/pd.1434. Prenat Diagn. 2006. PMID: 16532515

3

Novel mutations in prenatal diagnosis of primary microcephaly.

Desir J, Abramowicz M, Tunca Y. Desir J, et al. Prenat Diagn. 2006 Oct;26(10):989. doi: 10.1002/pd.1536. Prenat Diagn. 2006. PMID: 17029297 No abstract available.

4

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM, Abramowicz MJ. Desir J, et al. J Med Genet. 2007 May;44(5):322-6. doi: 10.1136/jmg.2006.046904. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220209 Free PMC article.

5

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

Van Bogaert P, Azizieh R, Désir J, Aeby A, De Meirleir L, Laes JF, Christiaens F, Abramowicz MJ. Van Bogaert P, et al. Among authors: desir j. Ann Neurol. 2007 Jun;61(6):579-86. doi: 10.1002/ana.21121. Ann Neurol. 2007. PMID: 17455289

6

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

Desir J, Cassart M, David P, Van Bogaert P, Abramowicz M. Desir J, et al. Am J Med Genet A. 2008 Jun 1;146A(11):1439-43. doi: 10.1002/ajmg.a.32312. Am J Med Genet A. 2008. PMID: 18452193

7

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).

Desir J, Abramowicz M. Desir J, et al. Orphanet J Rare Dis. 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. Orphanet J Rare Dis. 2008. PMID: 18922146 Free PMC article. Review.

8

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.

Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckère V, Cnop M, Abramowicz M, Désir J. Martinovici D, et al. Among authors: desir j. Eur J Med Genet. 2010 Jan-Feb;53(1):25-8. doi: 10.1016/j.ejmg.2009.10.004. Epub 2009 Nov 1. Eur J Med Genet. 2010. PMID: 19887127

9

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.

Désir J, Sznajer Y, Depasse F, Roulez F, Schrooyen M, Meire F, Abramowicz M. Désir J, et al. Eur J Hum Genet. 2010 Jul;18(7):761-7. doi: 10.1038/ejhg.2010.11. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179738 Free PMC article.

10

WDR62 is associated with the spindle pole and is mutated in human microcephaly.

Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG. Nicholas AK, et al. Among authors: desir j. Nat Genet. 2010 Nov;42(11):1010-4. doi: 10.1038/ng.682. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890279 Free PMC article.

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