Abramowicz M - Search Results

1

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. Revencu N, et al. Among authors: abramowicz m. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909

2

Sporadic case of trichorhinophalangeal syndrome type III in a European patient.

Vilain C, Sznajer Y, Rypens F, Désir D, Abramowicz MJ. Vilain C, et al. Among authors: abramowicz mj. Am J Med Genet. 1999 Aug 27;85(5):495-7. Am J Med Genet. 1999. PMID: 10405449

3

A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years.

Demeester R, Parma J, Cochaux P, Vassart G, Abramowicz MJ. Demeester R, et al. Among authors: abramowicz mj. Hum Mutat. 2001 Apr;17(4):354. doi: 10.1002/humu.42. Hum Mutat. 2001. PMID: 11295841 No abstract available.

4

Novel mutations in prenatal diagnosis of primary microcephaly.

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

5

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. Among authors: abramowicz mj. 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.

6

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. Ann Neurol. 2007 Jun;61(6):579-86. doi: 10.1002/ana.21121. Ann Neurol. 2007. PMID: 17455289

7

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. Among authors: abramowicz m. 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

8

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Prattichizzo C, et al. Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792. Hum Mutat. 2008. PMID: 18546297

9

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

Desir J, Abramowicz M. Desir J, et al. Among authors: abramowicz m. 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.

10

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. Among authors: abramowicz m. 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.

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

263 results

Search Page

Filters