Abramowicz MJ - Search Results

1

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.

2

Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophy.

Wetzburger CL, Van Regemorter N, Szliwowski HB, Abramowicz MJ, Van Bogaert P. Wetzburger CL, et al. Among authors: abramowicz mj. Pediatr Neurol. 1998 Nov;19(5):392-4. doi: 10.1016/s0887-8994(98)00085-x. Pediatr Neurol. 1998. PMID: 9880148

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

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.

Abramowicz MJ, Albuquerque-Silva J, Zanen A. Abramowicz MJ, et al. J Med Genet. 2002 Feb;39(2):110-2. doi: 10.1136/jmg.39.2.110. J Med Genet. 2002. PMID: 11836359 Free PMC article.

5

[Medical genetics service].

Vassart G, Abramowicz M, Cochaux P, Duprez L, el Housni H, Hayez F, Heimann P, Parma J, Vamos E, Van Regemorter N. Vassart G, et al. Rev Med Brux. 2002;23 Suppl 2:63-7. Rev Med Brux. 2002. PMID: 12584915 Review. French.

6

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

Christophe-Hobertus C, Kooy F, Gecz J, Abramowicz MJ, Holinski-Feder E, Schwartz C, Christophe D. Christophe-Hobertus C, et al. Among authors: abramowicz mj. BMC Med Genet. 2004 Sep 2;5:22. doi: 10.1186/1471-2350-5-22. BMC Med Genet. 2004. PMID: 15345028 Free PMC article.

7

Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis.

Abramowicz MJ, Ribai P, Cordonnier M. Abramowicz MJ, et al. Am J Med Genet A. 2005 Jan 1;132A(1):76-9. doi: 10.1002/ajmg.a.30372. Am J Med Genet A. 2005. PMID: 15551339

8

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

9

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.

10

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

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

157 results

Search Page

Filters