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  1. No Access

    Article

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Two distinct syndromes arise from pathogenic variants in the X-linked gene BCOR (BCL-6 corepressor): oculofaciocardiodental (OFCD) syndrome, which affects females, and a severe microphthalmia (‘Lenz’-type) syndro...

    Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea… in Human Genetics (2019)

  2. No Access

    Article

    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

    Linda Richards, Paul Lockhart, Christel Depienne and colleagues identify heterozygous DCC mutations in four families and five sporadic individuals with agenesis of the corpus callosum (ACC). They report that DCC ...

    Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier… in Nature Genetics (2017)

  3. Article

    Open Access

    Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

    Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic...

    Anne-Claude Tabet, Alain Verloes, Marion Pilorge, Elsa Delaby… in Molecular Autism (2015)

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  4. No Access

    Article

    ERGs in female carriers of incomplete Congenital Stationary Night Blindness (I-CSNB) A family report

    ERG findings in five sisters are reported. By pedigree analysis, four of the five must be obligate carriers for I-CSNB since their sons were affected (impaired night vision, reduced visual acuity, variable ame...

    Florence Rigaudière, Catherine Roux, Pierre Lachapelle… in Documenta Ophthalmologica (2003)

  5. No Access

    Article

    Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

    Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by congenital nystagmus and photodysphoria, moderate to severe reduction of visual acuity, hypopigmentation of the retina, and the pre...

    M. Bassi, Arthur Bergen, Pierre Bitoun, Stephen Charles… in Human Genetics (2001)

  6. No Access

    Article

    A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

    We report here the identification of a new human homeobox gene, PITX3, and its involvement in anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans. The PITX3 gene is the human homolog...

    Elena V. Semina, Robert E. Ferrell, Helen A. Mintz-Hittner… in Nature Genetics (1998)

  7. No Access

    Article

    Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

    Rieger syndrome (REG) is an autosomal–dominant human disorder that includes anomalies of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report the human cDNA and genomic cha...

    Elena V. Semina, Rebecca Reiter, Nancy J. Leysens, W. Lee M. Alward… in Nature Genetics (1996)