Publications by authors named "Marc J Abramowicz"

14Publications

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

Ann Neurol 2007 Jun;61(6):579-86

Department of Pediatric Neurology, Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.21121DOI Listing
June 2007

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

J Clin Endocrinol Metab 2005 May 22;90(5):2487-92. Epub 2005 Feb 22.

Department of Internal Medicine,Children's Unit, Centre Hospitalier Etterbeek-Ixelles, Brussels.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2004-2450DOI Listing
May 2005

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

Am J Med Genet A 2005 Jan;132A(1):76-9

Service de Génétique Médicale, Hôpital Erasme and Laboratoire de Génétique Médicale-ULB, Brussels, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30372DOI Listing
January 2005

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

BMC Med Genet 2004 Sep 2;5:22. Epub 2004 Sep 2.

Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles, IBMM, B-6041 Gosselies, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-5-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC517934PMC
September 2004

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.

Eur J Hum Genet 2004 May;12(5):419-21

Service de Génétique Médicale, Hôpital Erasme, Université Libre de Bruxelles, 808 Route de Lennik, 1070 Bruxelles, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201169DOI Listing
May 2004

Serotonin 5-HT(2B) receptor loss of function mutation in a patient with fenfluramine-associated primary pulmonary hypertension.

Cardiovasc Res 2003 Dec;60(3):518-28

Service de Génétique Médicale, Université Libre de Bruxelles, 808 Lennik, B-1070 Brussels, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cardiores.2003.09.015DOI Listing
December 2003