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Items: 6

1.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH.

J Exp Med. 2020 Mar 2;217(3). pii: e20191306. doi: 10.1084/jem.20191306.

PMID:
31914175
2.

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.

Bacrot S, Monnot S, Haddad G, Barcia G, Rachid M, Boisson M, Pasquier N, Rondeau S, Munnich A, Steffann J, Bonnefont JP, Raynaud M.

Prenat Diagn. 2019 Apr;39(5):388-393. doi: 10.1002/pd.5439. Epub 2019 Apr 1.

PMID:
30779209
3.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V.

J Med Genet. 2018 Apr;55(4):278-284. doi: 10.1136/jmedgenet-2017-104999. Epub 2018 Jan 22.

PMID:
29358272
4.

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Bacrot S, Mechler C, Talhi N, Martin-Coignard D, Roth P, Michot C, Ichkou A, Alibeu O, Nitschke P, Thomas S, Vekemans M, Razavi F, Boutaud L, Attie-Bitach T.

Birth Defects Res. 2018 Apr 3;110(6):538-542. doi: 10.1002/bdr2.1191. Epub 2018 Jan 8.

PMID:
29316359
5.

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

Bacrot S, Doyard M, Huber C, Alibeu O, Feldhahn N, Lehalle D, Lacombe D, Marlin S, Nitschke P, Petit F, Vazquez MP, Munnich A, Cormier-Daire V.

Hum Mutat. 2015 Feb;36(2):187-90. doi: 10.1002/humu.22729. Epub 2014 Dec 11.

PMID:
25504470
6.

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.

Clin Case Rep. 2014 Apr;2(2):25-32. doi: 10.1002/ccr3.48. Epub 2014 Feb 6.

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