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C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T. Lopez E, et al. Among authors: kleinfinger p. Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1. Hum Genet. 2014. PMID: 24178751
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.
Besseau-Ayasse J, Violle-Poirsier C, Bazin A, Gruchy N, Moncla A, Girard F, Till M, Mugneret F, Coussement A, Pelluard F, Jimenez M, Vago P, Portnoï MF, Dupont C, Beneteau C, Amblard F, Valduga M, Bresson JL, Carré-Pigeon F, Le Meur N, Tapia S, Yardin C, Receveur A, Lespinasse J, Pipiras E, Beaujard MP, Teboul P, Brisset S, Catty M, Nowak E, Douet Guilbert N, Lallaoui H, Bouquillon S, Gatinois V, Joly-Helas G, Prieur F, Cartault F, Martin D, Kleinfinger P, Molina Gomes D, Doco-Fenzy M, Vialard F. Besseau-Ayasse J, et al. Among authors: kleinfinger p. Prenat Diagn. 2014 May;34(5):424-30. doi: 10.1002/pd.4321. Epub 2014 Feb 12. Prenat Diagn. 2014. PMID: 24395195
Cell-free DNA analysis in maternal plasma in cases of fetal abnormalities detected on ultrasound examination.
Benachi A, Letourneau A, Kleinfinger P, Senat MV, Gautier E, Favre R, Bidat L, Houfflin-Debarge V, Bouyer J, Costa JM; Collaborative SEquençage a Haut Debit et Aneuploidies (SEHDA) Study Group. Benachi A, et al. Among authors: kleinfinger p. Obstet Gynecol. 2015 Jun;125(6):1330-1337. doi: 10.1097/AOG.0000000000000874. Obstet Gynecol. 2015. PMID: 26000504 Clinical Trial.
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.
Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le Caignec C, Bazin A, de Blois MC, Kuentz P, Catty M, Choiset A, Plessis G, Basinko A, Letard P, Flori E, Jimenez M, Valduga M, Landais E, Lallaoui H, Cartault F, Lespinasse J, Martin-Coignard D, Callier P, Pebrel-Richard C, Portnoi MF, Busa T, Receveur A, Amblard F, Yardin C, Harbuz R, Prieur F, Le Meur N, Pipiras E, Kleinfinger P, Vialard F, Doco-Fenzy M. Poirsier C, et al. Among authors: kleinfinger p. Eur J Hum Genet. 2016 Jun;24(6):844-51. doi: 10.1038/ejhg.2015.219. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508576 Free PMC article.
[Performance and indications of noninvasive prenatal testing using cell free circulating fetal DNA (cffDNA) for the detection of fetal trisomy 21, 18 and 13 in France].
Benachi A, Letourneau A, Kleinfinger P, Senat MV, Gautier E, Favre R, Bidat L, Houfflin-Debarge V, Querol V, Bouyer J, Costa JM; pour le groupe SEHDA. Benachi A, et al. Among authors: kleinfinger p. J Gynecol Obstet Biol Reprod (Paris). 2016 Jun;45(6):633-40. doi: 10.1016/j.jgyn.2015.08.003. Epub 2015 Oct 27. J Gynecol Obstet Biol Reprod (Paris). 2016. PMID: 26518155 French.
Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study.
Costa JM, Letourneau A, Favre R, Bidat L, Belaisch-Allart J, Jouannic JM, Quarello E, Senat MV, Broussin B, Tsatsaris V, Demain A, Kleinfinger P, Lohmann L, Agostini H, Bouyer J, Benachi A. Costa JM, et al. Among authors: kleinfinger p. Genet Med. 2018 Nov;20(11):1346-1353. doi: 10.1038/gim.2018.4. Epub 2018 Mar 1. Genet Med. 2018. PMID: 29493578 Free article.
28 results