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Page 1
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A. Vuillaume ML, et al. Among authors: gerard m. Hum Mutat. 2018 Jun;39(6):790-805. doi: 10.1002/humu.23428. Epub 2018 Apr 24. Hum Mutat. 2018. PMID: 29637653
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, Verloes A, Viot G, Romana S, Munnich A, Lyonnet S, Vekemans M, Turleau C. Sanlaville D, et al. Among authors: gerard b, gerard m. Eur J Hum Genet. 2005 May;13(5):690-3. doi: 10.1038/sj.ejhg.5201383. Eur J Hum Genet. 2005. PMID: 15770228 Review.
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Among authors: gerard m. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T. Mougou-Zerelli S, et al. Among authors: gerard m. Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116. Hum Mutat. 2009. PMID: 19777577 Free PMC article.
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G. Soldovieri MV, et al. Among authors: gerard m. Hum Mutat. 2014 Mar;35(3):356-67. doi: 10.1002/humu.22500. Epub 2014 Jan 13. Hum Mutat. 2014. PMID: 24375629
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.
Dubourg C, Bonnet-Brilhault F, Toutain A, Mignot C, Jacquette A, Dieux A, Gérard M, Beaumont-Epinette MP, Julia S, Isidor B, Rossi M, Odent S, Bendavid C, Barthélémy C, Verloes A, David V. Dubourg C, et al. Among authors: gerard m. Mol Syndromol. 2014 Feb;5(2):57-64. doi: 10.1159/000357359. Epub 2014 Jan 7. Mol Syndromol. 2014. PMID: 24715852 Free PMC article.
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, Trimouille A, Vignal C, Fenneteau O, Alembik Y, Alessandri JL, Blanchet P, Boute O, Bouvagnet P, David A, Dieux Coeslier A, Doray B, Dulac O, Drouin-Garraud V, Gérard M, Héron D, Isidor B, Lacombe D, Lyonnet S, Perrin L, Rio M, Roume J, Sauvion S, Toutain A, Vincent-Delorme C, Willems M, Baumann C, Verloes A. Cavé H, et al. Among authors: gerard m. Eur J Hum Genet. 2016 Aug;24(8):1124-31. doi: 10.1038/ejhg.2015.273. Epub 2016 Jan 13. Eur J Hum Genet. 2016. PMID: 26757980 Free PMC article.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S. Létard P, et al. Among authors: gerard m. Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Hum Mutat. 2018. PMID: 29243349 Free article.
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
Alessandri JL, Gordon CT, Jacquemont ML, Gruchy N, Ajeawung NF, Benoist G, Oufadem M, Chebil A, Duffourd Y, Dumont C, Gérard M, Kuentz P, Jouan T, Filippini F, Nguyen TTM, Alibeu O, Bole-Feysot C, Nitschké P, Omarjee A, Ramful D, Randrianaivo H, Doray B, Faivre L, Amiel J, Campeau PM, Thevenon J. Alessandri JL, et al. Among authors: gerard m. Eur J Hum Genet. 2018 Mar;26(3):340-349. doi: 10.1038/s41431-017-0087-x. Epub 2018 Jan 12. Eur J Hum Genet. 2018. PMID: 29330547 Free PMC article.
597 results