Abramowicz M - 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. Among authors: abramowicz m. 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

Experience with 1251 transcervical chorionic villus samplings performed in the first trimester by a single team of operators.

Donner C, Simon P, Karioun A, Delneste D, Abramowicz M, Cochaux P, Rodesch F. Donner C, et al. Among authors: abramowicz m. Eur J Obstet Gynecol Reprod Biol. 1995 May;60(1):45-51. doi: 10.1016/0028-2243(95)02080-2. Eur J Obstet Gynecol Reprod Biol. 1995. PMID: 7635230

3

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

4

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

Messiaen LM, Callens T, Roux KJ, Mortier GR, De Paepe A, Abramowicz M, Pericak-Vance MA, Vance JM, Wallace MR. Messiaen LM, et al. Among authors: abramowicz m. Genet Med. 1999 Sep-Oct;1(6):248-53. doi: 10.1097/00125817-199909000-00002. Genet Med. 1999. PMID: 11258625 Free article.

5

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: abramowicz m. Prenat Diagn. 2006 May;26(5):449-53. doi: 10.1002/pd.1434. Prenat Diagn. 2006. PMID: 16532515

6

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.

7

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.

8

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

9

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

10

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.

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