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  • Audrey Guilmatre, Christèle Dubourg, +25 authors Dominique Campion
  • Medicine, Psychology
  • Archives of general psychiatry
  • 2009 (First Publication: 1 September 2009)
  • CONTEXT Results of comparative genomic hybridization studies have suggested that rare copy number variations (CNVs) at numerous loci are involved in the cause of mental retardation, autism spectrumExpand
  • R. Vargas-Poussou, P. Houillier, +23 authors Anne Blanchard
  • Medicine
  • Journal of the American Society of Nephrology…
  • 2006 (First Publication: 1 May 2006)
  • Mutations in the ATP6V1B1 and ATP6V0A4 genes, encoding subunits B1 and 4 of apical H(+) ATPase, cause recessive forms of distal renal tubular acidosis (dRTA). ATP6V1B mutations have been associatedExpand
  • L. Castéra, Sophie Krieger, +17 authors D. Vaur
  • Biology, Medicine
  • European Journal of Human Genetics
  • 2014 (First Publication: 19 February 2014)
  • To optimize the molecular diagnosis of hereditary breast and ovarian cancer (HBOC), we developed a next-generation sequencing (NGS)-based screening based on the capture of a panel of genes involved,Expand
  • V. Malan, D. Rajan, +15 authors V. Cormier-Daire
  • Biology, Medicine
  • American journal of human genetics
  • 2010 (First Publication: 13 August 2010)
  • By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of aExpand
  • C. Thauvin‐Robinet, M. Cossée, +18 authors L. Faivre
  • Medicine, Biology
  • Journal of Medical Genetics
  • 2006 (First Publication: 27 May 2005)
  • Oral–facial–digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, andExpand
  • Christophe Némos, Laetitia Lambert, +10 authors Christophe Philippe
  • Biology, Medicine
  • Clinical genetics
  • 2009 (First Publication: 1 October 2009)
  • The CDKL5 gene has been implicated in the molecular etiology of early-onset intractable seizures with infantile spasms (IS), severe hypotonia and atypical Rett syndrome (RTT) features. So far, 48Expand