Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

31 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Synodinos JT, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, Guyader GLE, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: vuillaume ml. Eur J Hum Genet. 2024 Aug;32(8):1032. doi: 10.1038/s41431-024-01659-y. Eur J Hum Genet. 2024. PMID: 39060653 Free PMC article. 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.
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Le Caignec C, Pichon O, Briand A, de Courtivron B, Bonnard C, Lindenbaum P, Redon R, Schluth-Bolard C, Diguet F, Rollat-Farnier PA, Sanchez-Castro M, Vuillaume ML, Sanlaville D, Duboule D, Mégarbané A, Toutain A. Le Caignec C, et al. Among authors: vuillaume ml. Eur J Hum Genet. 2020 Mar;28(3):324-332. doi: 10.1038/s41431-019-0522-2. Epub 2019 Oct 7. Eur J Hum Genet. 2020. PMID: 31591517 Free PMC article.
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Jeanne M, Vuillaume ML, Ung DC, Vancollie VE, Wagner C, Collins SC, Vonwill S, Haye D, Chelloug N, Pfundt R, Kummeling J, Moizard MP, Marouillat S, Kleefstra T, Yalcin B, Laumonnier F, Toutain A. Jeanne M, et al. Among authors: vuillaume ml. Hum Genet. 2021 Jun;140(6):885-896. doi: 10.1007/s00439-020-02252-1. Epub 2021 Jan 8. Hum Genet. 2021. PMID: 33417013 Free article.
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.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: vuillaume ml. Eur J Hum Genet. 2024 Aug;32(8):928-937. doi: 10.1038/s41431-024-01610-1. Epub 2024 Apr 27. Eur J Hum Genet. 2024. PMID: 38678163 Free PMC article.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Moutton S, et al. Among authors: vuillaume ml. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193221
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S. Trimouille A, et al. Among authors: vuillaume ml. Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184170 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.
31 results