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Publications Authored by Bernard Aral | PubFacts
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34Publications

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Germline L611S mutation in a child with thrombocytosis.

Haematologica 2018 08 22;103(8):e372-e373. Epub 2018 Mar 22.

Service d'Hématologie Biologique, Pôle Biologie, CHU de Dijon, France

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http://dx.doi.org/10.3324/haematol.2018.188995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068025PMC
August 2018

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Eur J Hum Genet 2015 Jul 15;23(7):957-62. Epub 2014 Oct 15.

1] Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France [2] Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.

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http://dx.doi.org/10.1038/ejhg.2014.213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463501PMC
July 2015

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review.

Eur J Med Genet 2013 Dec 4;56(12):674-7. Epub 2013 Oct 4.

Unité de Génétique Médicale et laboratoire associé INSERM UMR S_910, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.ejmg.2013.09.012DOI Listing
December 2013

Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Mol Genet Metab 2013 Nov 8;110(3):268-74. Epub 2013 Sep 8.

Department of Metabolic Biochemistry, Hôpital Necker-Enfants Malades, AP-HP, 149 rue de Sèvres, 75015 Paris, France; School of Medicine, Paris Descartes University Sorbonne Paris Cité, 15 rue de l'Ecole de Médecine, 75006 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.08.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830450PMC
November 2013

Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family.

Turk J Pediatr 2009 Nov-Dec;51(6):631-6

Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.

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March 2010

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia.

Prenat Diagn 2008 Jan;28(1):69-71

Service de Cytogénétique et d'Embryologie, Hôpital Necker-Enfants Malades, AP-HP, Paris, Université Paris Descartes, Paris V, France.

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http://dx.doi.org/10.1002/pd.1911DOI Listing
January 2008

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.

Ann Neurol 2003 Feb;53(2):273-7

Laboratoire CERTO, CNRS UPR 1524, Faculté de Médecine Necker, Paris, France.

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http://dx.doi.org/10.1002/ana.10478DOI Listing
February 2003

Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene.

Mol Genet Metab 2002 Aug;76(4):344-7

Laboratoire CERTO, Faculté de Medécine Necker, 156 rue de Vaugirard, Paris, France.

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August 2002