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Page 1
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, Oneda B, Socher E, Crowther LM, Wohlrab G, Gogoll L, Poms M, Seiler M, Papik M, Baldinger R, Baumer A, Asadollahi R, Kroell-Seger J, Schmid R, Iff T, Schmitt-Mechelke T, Otten K, Hackenberg A, Addor MC, Klein A, Azzarello-Burri S, Sticht H, Joset P, Plecko B, Rauch A. Papuc SM, et al. Among authors: addor mc. Eur J Hum Genet. 2019 Mar;27(3):408-421. doi: 10.1038/s41431-018-0299-8. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552426 Free PMC article.
Association Down syndrome-retinoblastoma: a new observation.
Satgè D, Schorderet DF, Balmer A, Beck-Popovic M, Addor MC, Beckmann JS, Munier FL. Satgè D, et al. Among authors: addor mc. Ophthalmic Genet. 2005 Sep;26(3):151-2. doi: 10.1080/13816810500228894. Ophthalmic Genet. 2005. PMID: 16272063 No abstract available.
Prevalence of congenital heart defects in Europe, 2008-2015: A registry-based study.
Mamasoula C, Addor MC, Carbonell CC, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Khoshnood B, Klungsoyr K, Randall K, Stoianova S, Haeusler M, Nelen V, Neville AJ, Perthus I, Pierini A, Bertaut-Nativel B, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Zymak-Zakutnia N, Barisic I, de Walle HEK, Lanzoni M, Mullaney C, Pennington L, Rankin J. Mamasoula C, et al. Among authors: addor mc. Birth Defects Res. 2022 Dec 1;114(20):1404-1416. doi: 10.1002/bdr2.2117. Epub 2022 Nov 8. Birth Defects Res. 2022. PMID: 36345679 Free PMC article.
[Concern with systematic registration of medical data].
Ayme S, Addor MC. Ayme S, et al. Among authors: addor mc. Schweiz Med Wochenschr. 2000 Sep 23;130(38):1317-8. Schweiz Med Wochenschr. 2000. PMID: 11064922 French. No abstract available.
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.
Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.
Morris JK, Wellesley D, Limb E, Bergman JEH, Kinsner-Ovaskainen A, Addor MC, Broughan JM, Cavero-Carbonell C, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Haeusler M, Barisic I, Klungsoyr K, Lelong N, Materna-Kiryluk A, Neville A, Nelen V, O'Mahony MT, Perthus I, Pierini A, Rankin J, Rissmann A, Rouget F, Sayers G, Stevens S, Tucker D, Garne E. Morris JK, et al. Among authors: addor mc. Birth Defects Res. 2022 Dec 1;114(20):1417-1426. doi: 10.1002/bdr2.2122. Epub 2022 Nov 11. Birth Defects Res. 2022. PMID: 36369770 Free PMC article.
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R. Jaureguiberry G, et al. Among authors: addor mc. Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23. Nephron Physiol. 2012. PMID: 23434854 Free PMC article.
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Barisic I, et al. Among authors: addor mc. Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182137 Free PMC article.
Effects of eight neuropsychiatric copy number variants on human brain structure.
Modenato C, Kumar K, Moreau C, Martin-Brevet S, Huguet G, Schramm C, Jean-Louis M, Martin CO, Younis N, Tamer P, Douard E, Thébault-Dagher F, Côté V, Charlebois AR, Deguire F, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S; 16p11.2 European Consortium; Simons Searchlight Consortium; Melie-Garcia L, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Chakravarty M, Bzdok D, Bearden CE, Draganski B, Jacquemont S. Modenato C, et al. Transl Psychiatry. 2021 Jul 20;11(1):399. doi: 10.1038/s41398-021-01490-9. Transl Psychiatry. 2021. PMID: 34285187 Free PMC article.
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.
150 results