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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. Assoum M, et al. Among authors: faivre l. Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889060 Free PMC article.
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML. Bartels CF, et al. Among authors: faivre l. Am J Hum Genet. 2004 Jul;75(1):27-34. doi: 10.1086/422013. Epub 2004 May 14. Am J Hum Genet. 2004. PMID: 15146390 Free PMC article.
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Among authors: faivre l. Am J Hum Genet. 2004 Nov;75(5):801-6. doi: 10.1086/425231. Epub 2004 Sep 13. Am J Hum Genet. 2004. PMID: 15368195 Free PMC article.
Prenatal diagnosis of Juberg-Hayward syndrome.
Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, Sagot P. Couvreur-Lionnais S, et al. Among authors: faivre l. Prenat Diagn. 2005 Feb;25(2):172-5. doi: 10.1002/pd.943. Prenat Diagn. 2005. PMID: 15712337
730 results