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Items: 36

1.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019.

2.

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Guterman S, Beneteau C, Redon S, Dupont C, Missirian C, Jaeger P, Herve B, Jacquin C, Douet-Guilbert N, Till M, Tabet AC, Moradkhani K, Malan V, Doco-Fenzy M, Vialard F.

Prenat Diagn. 2019 Sep;39(10):871-882. doi: 10.1002/pd.5498. Epub 2019 Jul 5.

PMID:
31172545
3.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.

Hureaux M, Guterman S, Hervé B, Till M, Jaillard S, Redon S, Valduga M, Coutton C, Missirian C, Prieur F, Simon-Bouy B, Beneteau C, Kuentz P, Rooryck C, Gruchy N, Marle N, Plutino M, Tosca L, Dupont C, Puechberty J, Schluth-Bolard C, Salomon L, Sanlaville D, Malan V, Vialard F.

Prenat Diagn. 2019 May;39(6):464-470. doi: 10.1002/pd.5449. Epub 2019 Apr 29.

PMID:
30896039
4.

Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.

Picard V, Guitton C, Thuret I, Rose C, Bendelac L, Ghazal K, Aguilar-Martinez P, Badens C, Barro C, Bénéteau C, Berger C, Cathébras P, Deconinck E, Delaunay J, Durand JM, Firah N, Galactéros F, Godeau B, Jaïs X, de Jaureguiberry JP, Le Stradic C, Lifermann F, Maffre R, Morin G, Perrin J, Proulle V, Ruivard M, Toutain F, Lahary A, Garçon L.

Haematologica. 2019 Aug;104(8):1554-1564. doi: 10.3324/haematol.2018.205328. Epub 2019 Jan 17.

5.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P.

Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10.

6.

Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.

Gaillot-Durand L, Brioude F, Beneteau C, Le Breton F, Massardier J, Michon L, Devouassoux-Shisheboran M, Allias F.

Fetal Pediatr Pathol. 2018 Dec;37(6):387-399. doi: 10.1080/15513815.2018.1504842. Epub 2019 Jan 11.

PMID:
30633605
7.

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium, Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V.

Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290.

8.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.

Genet Med. 2019 Apr;21(4):816-825. doi: 10.1038/s41436-018-0266-3. Epub 2018 Sep 7.

9.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.

Pacault M, Vincent M, Besnard T, Kannengiesser C, Bénéteau C, Barbarot S, Latypova X, Belabbas K, Lamazière A, Winer N, Joubert M, Bézieau S, Isidor B, Mercier S, Nizon M, Leclerc-Mercier S, Hadj-Rabia S, Dufernez F.

Eur J Hum Genet. 2018 Dec;26(12):1784-1790. doi: 10.1038/s41431-018-0217-0. Epub 2018 Aug 22.

10.

Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B.

Nature. 2018 Sep;561(7722):E7. doi: 10.1038/s41586-018-0296-7.

PMID:
29977062
11.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B.

Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018 May 16. Erratum in: Nature. 2018 Sep;561(7722):E7.

PMID:
29769720
12.

Dehydrated hereditary stomatocytosis: Prenatal management of ascites and pleural effusions.

Le Vaillant C, Riteau AS, Eveillard M, Beneteau C.

Taiwan J Obstet Gynecol. 2018 Apr;57(2):323-324. doi: 10.1016/j.tjog.2018.02.026. No abstract available.

13.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. Erratum in: NPJ Genom Med. 2019 Jul 1;4:16.

14.

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.

Egloff M, Hervé B, Quibel T, Jaillard S, Le Bouar G, Uguen K, Saliou AH, Valduga M, Perdriolle E, Coutton C, Coston AL, Coussement A, Anselem O, Missirian C, Bretelle F, Prieur F, Fanget C, Muti C, Jacquemot MC, Beneteau C, Le Vaillant C, Vekemans M, Salomon LJ, Vialard F, Malan V.

Ultrasound Obstet Gynecol. 2018 Dec;52(6):715-721. doi: 10.1002/uog.18928.

15.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, Poirier K, Verloes A, Martinovic J, Bidat L, Rio M, Lyonnet S, Reilly ML, Boddaert N, Jenneson-Liver M, Motte J, Doco-Fenzy M, Chelly J, Attie-Bitach T, Simons M, Cantagrel V, Passemard S, Baffet A, Thomas S, Bahi-Buisson N.

Brain. 2017 Oct 1;140(10):2597-2609. doi: 10.1093/brain/awx218.

PMID:
28969387
16.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Baron S, Beneteau C, Bilan F, Boute O, Busa T, Cormier-Daire V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jønch A, Martin-Coignard D, Mercier S, Moutton S, Rooryck C, Schaefer E, Vincent M, Sanlaville D, Le Caignec C, Jacquemont S, David A, Isidor B.

Eur J Hum Genet. 2017 Aug;25(8):930-934. doi: 10.1038/ejhg.2017.93. Epub 2017 Jun 14.

17.

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

Nizon M, Cogne B, Vallat JM, Joubert M, Liet JM, Simon L, Vincent M, Küry S, Boisseau P, Schmitt S, Mercier S, Bénéteau C, Larrose C, Coste M, Latypova X, Péréon Y, Mussini JM, Bézieau S, Isidor B.

Eur J Hum Genet. 2017 Jan;25(1):150-152. doi: 10.1038/ejhg.2016.142. Epub 2016 Oct 26.

18.

[Congenital deformities of the hand and upper limb].

Duteille F, Beneteau C, Camut MV, Perrot P.

Ann Chir Plast Esthet. 2016 Oct;61(5):429-438. doi: 10.1016/j.anplas.2016.07.006. Epub 2016 Aug 18. French.

PMID:
27545656
19.

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.

Duval H, Michel-Calemard L, Gonzales M, Loget P, Beneteau C, Buenerd A, Joubert M, Denis-Musquer M, Clemenson A, Chesnais AL, Blesson S, De Pinieux I, Delezoide AL, Bonyhay G, Bellanné-Chantelot C, Heidet L, Dupré F, Collardeau-Frachon S.

Prenat Diagn. 2016 Aug;36(8):744-51. doi: 10.1002/pd.4858. Epub 2016 Jul 6.

20.

[Beckwith-Wiedemann syndrome: What do you search in prenatal diagnosis? About 14 cases].

Le Vaillant C, Beneteau C, Chan-Leconte N, David A, Riteau AS.

Gynecol Obstet Fertil. 2015 Nov;43(11):705-11. doi: 10.1016/j.gyobfe.2015.10.003. Epub 2015 Nov 2. French.

PMID:
26542939
21.

Hierarchical analysis of genetic structure in the habitat-specialist Eastern Sand Darter (Ammocrypta pellucida).

Ginson R, Walter RP, Mandrak NE, Beneteau CL, Heath DD.

Ecol Evol. 2015 Feb;5(3):695-708. doi: 10.1002/ece3.1392. Epub 2015 Jan 13.

22.

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.

Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F.

Prenat Diagn. 2015 Jan;35(1):35-43. doi: 10.1002/pd.4478. Epub 2014 Sep 16.

PMID:
25118001
23.

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.

Prenat Diagn. 2014 May;34(5):424-30. doi: 10.1002/pd.4321. Epub 2014 Feb 12.

PMID:
24395195
24.

[When should evoke prenatal paternal uniparental disomy 14?].

Boiffard F, Bénéteau C, Quéré MP, Philippe HJ, Le Vaillant C.

Gynecol Obstet Fertil. 2014 Apr;42(4):254-7. doi: 10.1016/j.gyobfe.2013.09.001. Epub 2014 Jan 3. French.

PMID:
24394322
25.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J.

Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.

PMID:
24319099
26.

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

Petit F, Jourdain AS, Andrieux J, Baujat G, Baumann C, Beneteau C, David A, Faivre L, Gaillard D, Gilbert-Dussardier B, Jouk PS, Le Caignec C, Loget P, Pasquier L, Porchet N, Holder-Espinasse M, Manouvrier-Hanu S, Escande F.

Clin Genet. 2014 May;85(5):464-9. doi: 10.1111/cge.12219. Epub 2013 Jul 15.

PMID:
23790188
27.

Constitutional telomeric association (Y;7) in a patient with a female phenotype.

Beneteau C, Baron S, David A, Jossic F, Poulain D, Schmitt S, Leclair MD, Piloquet P, Le Caignec C.

Am J Med Genet A. 2013 Jun;161A(6):1436-41. doi: 10.1002/ajmg.a.35889. Epub 2013 Apr 23. Review.

PMID:
23613342
28.

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.

Beneteau C, Thierry G, Blesson S, Le Vaillant C, Picard V, Béné MC, Eveillard M, Le Caignec C.

Clin Genet. 2014 Mar;85(3):293-5. doi: 10.1111/cge.12147. Epub 2013 Apr 14. No abstract available.

PMID:
23581886
29.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C.

Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7.

30.

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability.

Beneteau C, Landais E, Doco-Fenzy M, Gavazzi C, Philippe C, Béri-Dexheimer M, Bonnet C, Vigneron J, Walrafen P, Motte J, Leheup B, Jonveaux P.

J Med Genet. 2011 Sep;48(9):635-9. doi: 10.1136/jmedgenet-2011-100008. Epub 2011 May 26.

PMID:
21617255
31.

Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndrome.

Isidor B, Barbarot S, Bénéteau C, Le Caignec C, David A.

Am J Med Genet A. 2011 Jun;155A(6):1458-60. doi: 10.1002/ajmg.a.34048. Epub 2011 May 5. No abstract available.

PMID:
21548128
32.

The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole.

Muhlstein J, Golfier F, Rittore C, Hajri T, Philibert L, Abel F, Beneteau C, Touitou I.

Eur J Obstet Gynecol Reprod Biol. 2011 Aug;157(2):197-9. doi: 10.1016/j.ejogrb.2011.02.019. Epub 2011 Mar 25.

PMID:
21439709
33.

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

Piard J, Philippe C, Marvier M, Beneteau C, Roth V, Valduga M, Béri M, Bonnet C, Grégoire MJ, Jonveaux P, Leheup B.

Am J Med Genet A. 2010 Aug;152A(8):1933-41. doi: 10.1002/ajmg.a.33521.

PMID:
20635369
34.

Delineation of 15q13.3 microdeletions.

Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L.

Clin Genet. 2010 Aug;78(2):149-61. doi: 10.1111/j.1399-0004.2010.01374.x. Epub 2010 Feb 9.

PMID:
20236110
35.

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

Beneteau C, Cavé H, Moncla A, Dorison N, Munnich A, Verloes A, Leheup B.

Eur J Hum Genet. 2009 Oct;17(10):1216-21. doi: 10.1038/ejhg.2009.44. Epub 2009 Apr 8.

36.

[Policies for the use of antibiotic in 99 Southwestern French hospitals in 2002].

Rogues AM, Dumartin C, Parneix P, Prudhon H, Placet-Thomazeau B, Beneteau C, Dosque JP, Marty N, Labadie JC, Gachie JP.

Med Mal Infect. 2005 Nov;35(11):536-42. Epub 2005 Oct 25. French.

PMID:
16253460

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