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Page 1
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA. Li F, et al. Among authors: malan v. Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. doi: 10.1016/j.ejmg.2010.01.004. Epub 2010 Feb 2. Eur J Med Genet. 2010. PMID: 20132918
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: malan v. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Lajmi Y, Loeuillet L, Petrilli G, Egloff C, Nectoux J, Molac C, Roux N, Pannier E, Achaiaa A, Arkoub ZA, Chuon S, Coussement A, Dupont JM, Malan V, Spaggiari E, Razavi F, Amiel J, Bessières B, Grotto S, Attié-Bitach T. Lajmi Y, et al. Among authors: malan v. Birth Defects Res. 2023 Mar 15;115(5):563-571. doi: 10.1002/bdr2.2141. Epub 2022 Dec 20. Birth Defects Res. 2023. PMID: 36538874
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L. Rio M, et al. Among authors: malan v. Eur J Hum Genet. 2010 Mar;18(3):285-90. doi: 10.1038/ejhg.2009.159. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844254 Free PMC article.
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D. Bonnet C, et al. Among authors: malan v. J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902. J Med Genet. 2010. PMID: 20522426
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
Philippe O, Rio M, Malan V, Van Esch H, Baujat G, Bahi-Buisson N, Valayannopoulos V, Gesny R, Bonnefont JP, Munnich A, Froyen G, Amiel J, Boddaert N, Colleaux L. Philippe O, et al. Among authors: malan v. Eur J Hum Genet. 2013 Feb;21(2):195-9. doi: 10.1038/ejhg.2012.140. Epub 2012 Jul 18. Eur J Hum Genet. 2013. PMID: 22805531 Free PMC article.
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L. Thevenon J, et al. Among authors: malan v. J Med Genet. 2014 Jan;51(1):21-7. doi: 10.1136/jmedgenet-2013-101939. Epub 2013 Oct 16. J Med Genet. 2014. PMID: 24133203
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V. Nizon M, et al. Among authors: malan v. Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425167 Review.
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J. Vanlerberghe C, et al. Among authors: malan v. Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14. Eur J Med Genet. 2015. PMID: 25596525
113 results