A
Alain Verloes
Researcher at University of Paris
Publications - 464
Citations - 21574
Alain Verloes is an academic researcher from University of Paris. The author has contributed to research in topics: Microcephaly & Noonan syndrome. The author has an hindex of 73, co-authored 450 publications receiving 19231 citations. Previous affiliations of Alain Verloes include Institut Universitaire de France & Max Planck Society.
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[Programs of systematic screening in neonatology. Pharmaco-economic aspects].
TL;DR: The Genetic center of the University Hospital of Liège provides neonatal screening for the following diseases: phenylketonuria, congenital hypothyroidy, cystic fibrosis, alpha-1-antitrypsin, adrenal hyperplasia and biotinidase deficiency.
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Lumping of CFC and Baraitser-Patton Noonan-like syndromes.
Alain Verloes,Martine Le Merrer +1 more
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How to recognize Cowden syndrome: A novel PTEN mutation description.
TL;DR: A twenty year old Belgian woman (1 m 60, 65 kg) presented a multinodular goiter associated with cervical discomort and was repeatedly onsulted for gingival hypertrophy extending from the anterior ortion of the palate.
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Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.
Brigitte Gilbert-Dussardier,Audrey Briand-Suleau,Ingrid Laurendeau,Frédéric Bilan,Hélène Cavé,Alain Verloes,Michel Vidaud,Dominique Vidaud,Eric Pasmant +8 more
TL;DR: A syndromic familial case of a 12p duplication encompassing the dosage sensitive gene KRAS, whose phenotype overlapped with rasopathies is reported, a class of rare genetic syndromes combining facial abnormalities, heart defects, short stature, skin and genital abnormalities, and mental retardation.
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Lethal short-rib with median cleft and without polydactyly: a fourth case.
TL;DR: A new case of Beemer short-rib lethal dwarfism is presented in a 27 weeks fetus with discussion of the radiological and clinical pecularities.