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1981 1
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2000 9
2001 4
2002 3
2003 2
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2005 5
2007 4
2008 4
2009 4
2010 7
2011 10
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152 results

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Page 1
Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, Novak AM, van den Bout A, Bishara A, Rosenkrantz JL, Lorig-Roach R, Field AR, Haeussler M, Russo L, Bhaduri A, Nowakowski TJ, Pollen AA, Dougherty ML, Nuttle X, Addor MC, Zwolinski S, Katzman S, Kriegstein A, Eichler EE, Salama SR, Jacobs FMJ, Haussler D. Fiddes IT, et al. Among authors: addor mc. Cell. 2018 May 31;173(6):1356-1369.e22. doi: 10.1016/j.cell.2018.03.051. Epub 2018 May 31. Cell. 2018. PMID: 29856954 Free PMC article.
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB. Mirzaa G, et al. Among authors: addor mc. JCI Insight. 2016 Jun 16;1(9):e87623. doi: 10.1172/jci.insight.87623. JCI Insight. 2016. PMID: 27631024 Free PMC article.
Use of GLP1 receptor agonists in early pregnancy and reproductive safety: a multicentre, observational, prospective cohort study based on the databases of six Teratology Information Services.
Dao K, Shechtman S, Weber-Schoendorfer C, Diav-Citrin O, Murad RH, Berlin M, Hazan A, Richardson JL, Eleftheriou G, Rousson V, Diezi L, Haefliger D, Simões-Wüst AP, Addor MC, Baud D, Lamine F, Panchaud A, Buclin T, Girardin FR, Winterfeld U. Dao K, et al. Among authors: addor mc. BMJ Open. 2024 Apr 24;14(4):e083550. doi: 10.1136/bmjopen-2023-083550. BMJ Open. 2024. PMID: 38663923 Free PMC article.
Toriello-Carey syndrome: delineation and review.
Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello HV, et al. Among authors: addor mc. Am J Med Genet A. 2003 Nov 15;123A(1):84-90. doi: 10.1002/ajmg.a.20493. Am J Med Genet A. 2003. PMID: 14556252 Review.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: addor mc. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Risk of Congenital Ocular Anomaly After Prenatal Exposure to Medications: A EUROmediCAT Study.
Cifuentes EA, Beau A, Caillet A, Frémont F, Neville AJ, Ballardini E, Dolk H, Loane M, Garne E, Khoshnood B, Lelong N, Rissmann A, O'Mahony M, Pierini A, Gatt M, Bergman JEH, Krawczynski MR, Latos Bielenska A, Echevarría González de Garibay LJ, Cavero Carbonell C, Addor MC, Tucker D, Jordan S, Den Hond E, Nelen V, Barisic I, Rouget F, Randrianaivo H, Hoareau J, Perthus I, Courtade-Saïdi M, Damase-Michel C, Dubucs C. Cifuentes EA, et al. Among authors: addor mc. Birth Defects Res. 2025 Feb;117(2):e2435. doi: 10.1002/bdr2.2435. Birth Defects Res. 2025. PMID: 39890450
Surveillance of multiple congenital anomalies; searching for new associations.
Morris JK, Bergman JEH, Barisic I, Wellesley D, Tucker D, Limb E, Addor MC, Cavero-Carbonell C, Matias Dias C, Draper ES, Echevarría-González-de-Garibay LJ, Gatt M, Klungsøyr K, Lelong N, Luyt K, Materna-Kiryluk A, Nelen V, Neville A, Perthus I, Pierini A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Rouget F, Sayers G, Wertelecki W, Kinsner-Ovaskainen A, Garne E. Morris JK, et al. Among authors: addor mc. Eur J Hum Genet. 2024 Apr;32(4):407-412. doi: 10.1038/s41431-023-01502-w. Epub 2023 Dec 5. Eur J Hum Genet. 2024. PMID: 38052905 Free PMC article. Review.
Congenital clubfoot in Europe: A population-based study.
Wang H, Barisic I, Loane M, Addor MC, Bailey LM, Gatt M, Klungsoyr K, Mokoroa O, Nelen V, Neville AJ, O'Mahony M, Pierini A, Rissmann A, Verellen-Dumoulin C, de Walle HEK, Wiesel A, Wisniewska K, de Jong-van den Berg LTW, Dolk H, Khoshnood B, Garne E. Wang H, et al. Among authors: addor mc. Am J Med Genet A. 2019 Apr;179(4):595-601. doi: 10.1002/ajmg.a.61067. Epub 2019 Feb 10. Am J Med Genet A. 2019. PMID: 30740879
Toward the effective surveillance of hypospadias.
Dolk H, Vrijheid M, Scott JE, Addor MC, Botting B, de Vigan C, de Walle H, Garne E, Loane M, Pierini A, Garcia-Minaur S, Physick N, Tenconi R, Wiesel A, Calzolari E, Stone D. Dolk H, et al. Among authors: addor mc. Environ Health Perspect. 2004 Mar;112(3):398-402. doi: 10.1289/ehp.6398. Environ Health Perspect. 2004. PMID: 14998760 Free PMC article.
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: addor mc. 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
152 results