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Year Number of Results
2002 1
2003 2
2004 1
2005 1
2006 3
2008 1
2010 1
2011 7
2012 5
2013 3
2014 5
2015 5
2016 6
2017 2
2018 6
2019 6
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62 results

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Page 1
Genetic testing in prolactinomas: a cohort study.
Boukerrouni A, Cuny T, Anjou T, Raingeard I, Ferrière A, Grunenwald S, Maïza JC, Marquant E, Sahakian N, Fodil-Cherif S, Salle L, Niccoli P, Randrianaivo H, Sonnet E, Chevalier N, Thuillier P, Vezzosi D, Reynaud R, Dufour H, Brue T, Tabarin A, Delemer B, Kerlan V, Castinetti F, Barlier A, Romanet P. Boukerrouni A, et al. Among authors: randrianaivo h. Eur J Endocrinol. 2023 Dec 6;189(6):567-574. doi: 10.1093/ejendo/lvad148. Eur J Endocrinol. 2023. PMID: 37956455
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp MC, Alessi MC, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux MF, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Savoia A, et al. Among authors: randrianaivo h. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24934643 Review.
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. Mannucci I, et al. Among authors: randrianaivo h. Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3. Genome Med. 2021. PMID: 34020708 Free PMC article.
Ethics and legal requirements for data linkage in 14 European countries for children with congenital anomalies.
Claridge H, Tan J, Loane M, Garne E, Barisic I, Cavero-Carbonell C, Dias C, Gatt M, Jordan S, Khoshnood B, Kiuru-Kuhlefelt S, Klungsoyr K, Mokoroa Carollo O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rissmann A, Tucker D, de Walle H, Wertelecki W, Morris JK. Claridge H, et al. Among authors: randrianaivo h. BMJ Open. 2023 Jul 27;13(7):e071687. doi: 10.1136/bmjopen-2023-071687. BMJ Open. 2023. PMID: 37500278 Free PMC article. Review.
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Alessandri JL, Celse T, Spodenkiewicz M, Calaya A, Dumont C, Jacquemont ML, Bertaut-Nativel B, Boumahni B, Rémy M, Ferroul F, Guilly S, Huby T, Irabé M, Laurens T, Munier P, Morel G, Payet F, Randrianaivo H, Doray B, Dospeux J. Alessandri JL, et al. Among authors: randrianaivo h. Eur J Med Genet. 2024 Jun;69:104940. doi: 10.1016/j.ejmg.2024.104940. Epub 2024 May 3. Eur J Med Genet. 2024. PMID: 38705458 Free article.
Paper 2: EUROCAT public health indicators for congenital anomalies in Europe.
Khoshnood B, Greenlees R, Loane M, Dolk H; EUROCAT Project Management Committee; EUROCAT Working Group. Khoshnood B, et al. Birth Defects Res A Clin Mol Teratol. 2011 Mar;91 Suppl 1(Suppl 1):S16-22. doi: 10.1002/bdra.20776. Epub 2011 Mar 4. Birth Defects Res A Clin Mol Teratol. 2011. PMID: 21381186 Free PMC article. Review.
Amniotic band syndrome and limb body wall complex in Europe 1980-2019.
Bergman JEH, Barišić I, Addor MC, Braz P, Cavero-Carbonell C, Draper ES, Echevarría-González-de-Garibay LJ, Gatt M, Haeusler M, Khoshnood B, Klungsøyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, Martin D, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Sayers G, Schaub B, Stevens S, Tucker D, Verellen-Dumoulin C, Wiesel A, Gerkes EH, Perraud A, Loane MA, Wellesley D, de Walle HEK. Bergman JEH, et al. Among authors: randrianaivo h. Am J Med Genet A. 2023 Apr;191(4):995-1006. doi: 10.1002/ajmg.a.63107. Epub 2022 Dec 30. Am J Med Genet A. 2023. PMID: 36584346
62 results