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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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Journal ArticleDOI
Genome Scan for Familial Abdominal Aortic Aneurysm Using Sex and Family History as Covariates Suggests Genetic Heterogeneity and Identifies Linkage to Chromosome 19q13
Hidenori Shibamura,Jane M. Olson,Clarissa van Vlijmen-van Keulen,Sarah G. Buxbaum,Doreen M. Dudek,Gerard Tromp,Toru Ogata,Magdalena Skunca,Natzi Sakalihasan,Gerard Pals,Raymond Limet,Gerald L. MacKean,Olivier D. Defawe,Alain Verloes,Claudette Arthur,Alan G. Lossing,Marjorie Burnett,Taijiro Sueda,Helena Kuivaniemi +18 more
TL;DR: Evidence is provided for genetic heterogeneity and the presence of susceptibility loci for AAA on chromosomes 19q13 and 4q31 and a region on chromosome 4 with a LOD score of 3.73 near marker D4S1644 is identified.
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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
Carine Le Goff,Clémentine Mahaut,Avinash Abhyankar,Wilfried Le Goff,Valérie Serre,Alexandra Afenjar,Anne Destree,Maja Di Rocco,Delphine Héron,Sébastien Jacquemont,Sandrine Marlin,Marleen Simon,John Tolmie,Alain Verloes,Jean-Laurent Casanova,Jean-Laurent Casanova,Arnold Munnich,Valérie Cormier-Daire +17 more
TL;DR: Exome sequencing of individuals with Myhre syndrome identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling, and found a defect inSMAD4 ubiquitination in fibroblasts from affected individuals.
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Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Christel Depienne,Daniel Moreno-De-Luca,Daniel Moreno-De-Luca,Delphine Héron,Delphine Bouteiller,Aurélie Gennetier,Aurélie Gennetier,Richard Delorme,Pauline Chaste,Jean-Pierre Siffroi,Sandra Chantot-Bastaraud,Baya Benyahia,Oriane Trouillard,Gudrun Nygren,Svenny Kopp,Maria E. Johansson,Maria Råstam,Lydie Burglen,Eric LeGuern,Eric LeGuern,Alain Verloes,Marion Leboyer,Marion Leboyer,Alexis Brice,Alexis Brice,Christopher Gillberg,Catalina Betancur,Catalina Betancur +27 more
TL;DR: The results show that abnormalities of the 15q11-q13 region are a significant cause of ASD, accounting for approximately 1% of cases, and indicate that patients with ASD should be routinely screened for 15q genomic imbalances and methylation abnormalities with multiplex ligation-dependent probe amplification (MLPA).
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Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly
Vincent Marion,Fanny Stutzmann,Marion Gérard,Charlie De Melo,Elise Schaefer,Aurélie Claussmann,Sophie Hellé,Valérie Delague,Eric H Souied,Catherine Barrey,Alain Verloes,Corinne Stoetzel,Hélène Dollfus +12 more
TL;DR: It is shown that absence of LZTFL1 leads to a BBS phenotype with enhanced developmental abnormalities associated with cellular Shh dysfunction, and BBS17 is a novel BBS gene (BBS17).
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Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis
Stephen R.F. Twigg,Elena Vorgia,Elena Vorgia,Simon J. McGowan,Ioanna Peraki,Ioanna Peraki,Aimee L. Fenwick,Vikram P Sharma,Maryline Allegra,Andreas Zaragkoulias,Elham Sadighi Akha,Samantha J. L. Knight,Helen Lord,Tracy Lester,Louise Izatt,Anne K. Lampe,Shehla Mohammed,Fiona Stewart,Alain Verloes,Louise C. Wilson,Chris Healy,Paul T. Sharpe,Peter Hammond,Jim R. Hughes,Stephen S. Taylor,David W. Johnson,Steven A. Wall,George Mavrothalassitis,George Mavrothalassitis,Andrew O.M. Wilkie +29 more
TL;DR: Reduced dosage of ERF, which encodes an inhibitory ETS transcription factor directly bound by ERK1/2, causes complex craniosynostosis in humans and mice and is identified as a novel regulator of osteogenic stimulation by RAS-ERK signaling, potentially by competing with activating ETS factors in multifactor transcriptional complexes.