Publications by authors named "Anna Pelet"

21Publications

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Hum Mol Genet 2019 11;28(22):3805-3814

Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, 12808 Prague, Czech Republic.

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http://dx.doi.org/10.1093/hmg/ddz237DOI Listing
November 2019

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.

Eur J Hum Genet 2007 Feb 8;15(2):242-5. Epub 2006 Nov 8.

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

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http://dx.doi.org/10.1038/sj.ejhg.5201733DOI Listing
February 2007

Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse).

Am J Med Genet A 2003 Feb;117A(1):18-20

Département de Génétique et INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.10934DOI Listing
February 2003

Segregation at three loci explains familial and population risk in Hirschsprung disease.

Nat Genet 2002 May 15;31(1):89-93. Epub 2002 Apr 15.

Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.

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http://www.nature.com/articles/ng868
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http://dx.doi.org/10.1038/ng868DOI Listing
May 2002