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Page 1
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P. Karolak JA, et al. Among authors: molin a. Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639323 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
Marcato L, Turolla L, Pompilii E, Dupont C, Gruchy N, De Toffol S, Bracalente G, Bacrot S, Troilo E, Tabet AC, Rossi S, Delezoïde AL, Baldo D, Leporrier N, Maggi F, Molin A, Pilu G, Simoni G, Vialard F, Grati FR. Marcato L, et al. Among authors: molin a. Clin Case Rep. 2014 Apr;2(2):25-32. doi: 10.1002/ccr3.48. Epub 2014 Feb 6. Clin Case Rep. 2014. PMID: 25356238 Free PMC article.
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
Molin A, Benoist G, Jeanne-Pasquier C, Elkartoufi N, Litzer J, Decamp M, Gruchy N, Durand-Malbruny M, Begorre M, Attie-Bitach T, Leporrier N. Molin A, et al. Eur J Med Genet. 2013 Oct;56(10):580-3. doi: 10.1016/j.ejmg.2013.08.002. Epub 2013 Aug 15. Eur J Med Genet. 2013. PMID: 23954617
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Jordan P, Dorval G, Arrondel C, Morinière V, Tournant C, Audrezet MP, Michel-Calemard L, Putoux A, Lesca G, Labalme A, Whalen S, Loeuillet L, Martinovic J, Attie-Bitach T, Bessières B, Schaefer E, Scheidecker S, Lambert L, Beneteau C, Patat O, Boute-Benejean O, Molin A, Guimiot F, Fontanarosa N, Nizon M, Lefebvre M, Jeanpierre C, Saunier S, Heidet L. Jordan P, et al. Among authors: molin a. Hum Mutat. 2022 Mar;43(3):347-361. doi: 10.1002/humu.24324. Epub 2022 Jan 10. Hum Mutat. 2022. PMID: 35005812
Facial features in Harlequin ichthyosis: Clinical findings about 4 cases.
Kün-Darbois JD, Molin A, Jeanne-Pasquier C, Paré A, Bénateau H, Veyssière A. Kün-Darbois JD, et al. Among authors: molin a. Rev Stomatol Chir Maxillofac Chir Orale. 2016 Feb;117(1):51-3. doi: 10.1016/j.revsto.2015.11.007. Epub 2015 Dec 28. Rev Stomatol Chir Maxillofac Chir Orale. 2016. PMID: 26740202
151 results