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chelloul n
(57 results)?
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26.
J Med Genet. 2019.
PMID: 31451536
Free PMC article.
3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C.
Massier M, et al. Among authors: chelloug n.
Am J Med Genet A. 2024 Feb 29:e63531. doi: 10.1002/ajmg.a.63531. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38421086
Item in Clipboard
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: chelloug n.
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.
Item in Clipboard
French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature.
Luquet I, Mugneret F, Athis PD, Nadal N, Favre B, Abel C, Chelloug N, Lespinasse J, Portnoi MF, Joyé N, Dupont JM, Lebbar A, Bresson JL, Fellmann F, Siffroi JP, Chantot-Bastaraud S, Chiesa J, Amblard F, Devillard F, Jeandidier E, Boceno M, Rival JM, Bellec V, Lallaoui H, Delobel B, Croquette MF, Benzacken B.
Luquet I, et al. Among authors: chelloug n.
Ann Genet. 2002 Apr-Jun;45(2):77-88. doi: 10.1016/s0003-3995(02)01118-8.
Ann Genet. 2002.
PMID: 12119216
Review.
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Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report.
Lohmann L, Chelloug N, Rosales B, Guérin C, Lyonnet S, Jonveaux P, Simon-Bouy B.
Lohmann L, et al. Among authors: chelloug n.
Prenat Diagn. 2000 Feb;20(2):156-8.
Prenat Diagn. 2000.
PMID: 10694690
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Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome.
Sztriha L, Guerrini R, Harding B, Stewart F, Chelloug N, Johansen JG.
Sztriha L, et al. Among authors: chelloug n.
Am J Med Genet A. 2004 Jun 15;127A(3):313-7. doi: 10.1002/ajmg.a.30014.
Am J Med Genet A. 2004.
PMID: 15150787
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