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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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Elke de Boer,Charlotte W. Ockeloen,Leslie Matalonga,Rita Horvath,Richard J. Rodenburg,Marieke J H Coenen,Mirian C. H. Janssen,Dylan J H A Henssen,Christian Gilissen,Wouter Steyaert,Ida Paramonov,Solve-RD-DITF-ITHACA,Aurélien Trimouille,Tjitske Kleefstra,Alain Verloes,Lisenka E.L.M. Vissers +15 more
TL;DR: In this paper, the authors identified a functionally relevant mtDNA variant in MT-TL1 (NC_012920.1:m.62T > C), at a heteroplasmy level of 22% in whole blood, in a 23-year-old male with severe intellectual disability, epilepsy, episodic headaches with emesis, spastic tetraparesis, brain abnormalities and feeding difficulties.
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Hypertrichosis, Fallot tetralogy, growth and developmental delay
TL;DR: A female patient with a unique pattern of pre- and postnatal growth deficiency, tetralogy of Fallot, very long eyelashes (trichomegaly), progressive and generalized hypertrichosis lanuginosa, brain atrophy with epilepsy, and puffy hands and feet is reported.
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Clinical overlap of OFD type IX with Pallister–Killian syndrome (tetrasomy 12p)
David Geneviève,Yves Sznajer,M. Raoul,Damien Sanlaville,Alain Verloes,M.F. Portnoï,C. Bauman +6 more
TL;DR: A patient who showed a OFD phenotype at birth that turned out to have 12p mosaic tetrasomy is reported on, who had severe psychomotor retardation and had severe epilepsy.
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Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
TL;DR: In this article, the authors reported two siblings with classical clinical and radiological features of DMC and asymptomatic atlanto-axial dislocation and a novel homozygous splice-site mutation (IVS15+3G>T) was detected.
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Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity
TL;DR: Both patients had a concordant pattern of anomalies consisting of congenital lamellar ichthyosis with spontaneous improvement, moderate mental retardation, mild pyramidal involvement, telecanthus, flat facies, stubby long bones, and coxa valga.