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Page 1
A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.
Boudet-Berquier J, Demattei C, Guldner L, Gallay A, Manouvrier S, Botton J, Philippat C, Delva F, Bloch J, Semaille C, Odent S, Perthus I, Randrianaivo H, Babajko S, Barjat T, Beneteau C, Brennetot N, Garne E, Haddad G, Hocine M, Lacroix I, Leuraud K, Mench M, Morris J, Patrier S, Sartelet A, Verloes A, Bonaldi C, Le Barbier M, Gagnière B, Pépin P, Ollivier R, Bitoun M, King L, Guajardo-Villar A, Gomes E, Desenclos JC, Regnault N, Benachi A. Boudet-Berquier J, et al. Among authors: verloes a. Eur J Epidemiol. 2024 Apr 27. doi: 10.1007/s10654-024-01125-5. Online ahead of print. Eur J Epidemiol. 2024. PMID: 38671254
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Among authors: verloes a. Eur J Hum Genet. 2021 Sep;29(9):1470-1471. doi: 10.1038/s41431-021-00937-3. Eur J Hum Genet. 2021. PMID: 34267341 Free PMC article. No abstract available.
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.
Morison LD, Van Reyk O, Baker E, Ruaud L, Couque N, Verloes A, Amor DJ, Morgan AT. Morison LD, et al. Among authors: verloes a. Eur J Med Genet. 2024 Apr;68:104923. doi: 10.1016/j.ejmg.2024.104923. Epub 2024 Feb 10. Eur J Med Genet. 2024. PMID: 38346666 Free article.
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
Bessis D, Bursztejn AC, Morice-Picard F, Capri Y, Barbarot S, Aubert H, Bodet D, Bourrat E, Chiaverini C, Poujade L, Willems M, Rouanet J, Dompmartin-Blanchère A, Geneviève D, Gerard M, Ginglinger E, Hadj-Rabia S, Martin L, Mazereeuw-Hautier J, Bibas N, Molinari N, Herman F, Phan A, Rod J, Roger H, Sigaudy S, Ziegler A, Vial Y, Verloes A, Cavé H, Lacombe D. Bessis D, et al. Among authors: verloes a. J Eur Acad Dermatol Venereol. 2024 Apr 10. doi: 10.1111/jdv.19996. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 38595321
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L. Paulet A, et al. Among authors: verloes a. Eur J Hum Genet. 2024 Apr 3. doi: 10.1038/s41431-024-01606-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38565641 No abstract available.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Gerasimenko A, Mignot C, Naggara O, Coulet F, Ekram S, Heide S, Sorato C, Mazowiecki M, Perrin L, Colas C, Cusin V, Caux F, Dardenne A, El Chehadeh S, Verloes A, Maurey H, Afenjar A, Petit F, Barete S, Boespflug-Tanguy O, Bourrat E, Capri Y, Ciorna V, Deb W, Doummar D, Perrier A, Guédon A, Houdart E, Isidor B, Jacquemont ML, Buffet C, Mercier S, Passemard S, Riquet A, Ruaud L, Schaefer E, Heron D, Bisdorff A, Benusiglio PR. Gerasimenko A, et al. Among authors: verloes a. Clin Genet. 2024 Feb 29. doi: 10.1111/cge.14515. Online ahead of print. Clin Genet. 2024. PMID: 38424388
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L. Paulet A, et al. Among authors: verloes a. Eur J Hum Genet. 2024 Feb 15. doi: 10.1038/s41431-024-01560-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38355961
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Catalan PA, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: verloes a. Circ Genom Precis Med. 2024 Feb;17(1):e004285. doi: 10.1161/CIRCGEN.123.004285. Epub 2023 Dec 7. Circ Genom Precis Med. 2024. PMID: 38059363 Free article.
503 results