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Showing results for vuillaume m
Search for Wuillaume M instead (3 results)
[Home schooling].
Vuillaume M, Coulon-Strumeyer C. Vuillaume M, et al. Soins Pediatr Pueric. 1999 Jan-Feb;(186):14-6. Soins Pediatr Pueric. 1999. PMID: 10578961 French. No abstract available.
CUGC for Simpson-Golabi-Behmel syndrome (SGBS).
Vuillaume ML, Moizard MP, Baumer A, Cottereau E, Brioude F, Rauch A, Toutain A. Vuillaume ML, et al. Eur J Hum Genet. 2019 Apr;27(4):663-668. doi: 10.1038/s41431-019-0339-z. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683921 Free PMC article.
Early fetal presentation of Koolen-de Vries: Case report with literature review.
Sauvestre F, Marguet F, Rooryck C, Vuillaume ML, Cardinaud F, Laquerrière A, André G, Pelluard F. Sauvestre F, et al. Among authors: vuillaume ml. Eur J Med Genet. 2017 Nov;60(11):605-609. doi: 10.1016/j.ejmg.2017.08.012. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28811189 Review.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Cordovado A, Schaettin M, Jeanne M, Panasenkava V, Denommé-Pichon AS, Keren B, Mignot C, Doco-Fenzy M, Rodan L, Ramsey K, Narayanan V, Jones JR, Prijoles EJ, Mitchell WG, Ozmore JR, Juliette K, Torti E, Normand EA, Granger L, Petersen AK, Au MG, Matheny JP, Phornphutkul C, Chambers MK, Fernández-Ramos JA, López-Laso E, Kruer MC, Bakhtiari S, Zollino M, Morleo M, Marangi G, Mei D, Pisano T, Guerrini R, Louie RJ, Childers A, Everman DB, Isidor B, Audebert-Bellanger S, Odent S, Bonneau D, Gilbert-Dussardier B, Redon R, Bézieau S, Laumonnier F, Stoeckli ET, Toutain A, Vuillaume ML. Cordovado A, et al. Among authors: vuillaume ml. Hum Mol Genet. 2022 Sep 29;31(19):3325-3340. doi: 10.1093/hmg/ddac114. Hum Mol Genet. 2022. PMID: 35604360 Free PMC article.
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, Amor DJ, Walsh M, Sznajer Y, Weiß L, Weidensee S, Chitayat D, Shannon P, Bermejo-Sánchez E, Riaño-Galán I, Hayes I, Poke G, Rooryck C, Pennamen P, Khung-Savatovsky S, Toutain A, Vuillaume ML, Ghaderi-Sohi S, Kariminejad MH, Weinert S, Sticht H, Zenker M, Schanze D. Abdelfattah F, et al. Among authors: vuillaume ml. Hum Mutat. 2020 Sep;41(9):1615-1628. doi: 10.1002/humu.24067. Epub 2020 Jul 15. Hum Mutat. 2020. PMID: 32579715
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Khanna R, Dobyns WB, Bézieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F. Jeanne M, et al. Among authors: vuillaume ml. Am J Hum Genet. 2021 May 6;108(5):951-961. doi: 10.1016/j.ajhg.2021.04.004. Epub 2021 Apr 23. Am J Hum Genet. 2021. PMID: 33894126 Free PMC article.
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
Vuillaume ML, Jeanne M, Xue L, Blesson S, Denommé-Pichon AS, Alirol S, Brulard C, Colin E, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bézieau S, Rondard P, Laumonnier F, Toutain A. Vuillaume ML, et al. Ann Neurol. 2018 Feb;83(2):437-439. doi: 10.1002/ana.25155. Epub 2018 Feb 7. Ann Neurol. 2018. PMID: 29369404 Free article. No abstract available.
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Halewa J, Marouillat S, Dixneuf M, Thépault RA, Ung DC, Chatron N, Gérard B, Ghoumid J, Lesca G, Till M, Smol T, Couque N, Ruaud L, Chune V, Grotto S, Verloes A, Vuillaume ML, Toutain A, Raynaud M, Laumonnier F. Halewa J, et al. Among authors: vuillaume ml. Hum Mutat. 2021 Jul;42(7):848-861. doi: 10.1002/humu.24208. Epub 2021 May 3. Hum Mutat. 2021. PMID: 33856728 Free PMC article.
92 results