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Items: 1 to 50 of 65

1.

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.

Christou-Kent M, Kherraf ZE, Amiri-Yekta A, Le Blévec E, Karaouzène T, Conne B, Escoffier J, Assou S, Guttin A, Lambert E, Martinez G, Boguenet M, Fourati Ben Mustapha S, Cedrin Durnerin I, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Coutton C, Thierry-Mieg N, Nef S, Bottari SP, Zouari R, Issartel JP, Ray PF, Arnoult C.

EMBO Mol Med. 2018 Apr 16. pii: e8515. doi: 10.15252/emmm.201708515. [Epub ahead of print]

2.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S.

J Med Genet. 2018 Apr 4. pii: jmedgenet-2017-104956. doi: 10.1136/jmedgenet-2017-104956. [Epub ahead of print]

PMID:
29618507
3.

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.

Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lorès P, Karaouzène T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Touré A, Ray PF, Zhao H, Coutton C.

Am J Hum Genet. 2018 Apr 5;102(4):636-648. doi: 10.1016/j.ajhg.2018.03.007.

PMID:
29606301
4.

Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility.

Kherraf ZE, Conne B, Amiri-Yekta A, Kent MC, Coutton C, Escoffier J, Nef S, Arnoult C, Ray PF.

Mol Cell Endocrinol. 2018 Mar 6. pii: S0303-7207(18)30088-1. doi: 10.1016/j.mce.2018.03.002. [Epub ahead of print] Review.

PMID:
29522859
5.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.

Neurogenetics. 2018 Mar 6. doi: 10.1007/s10048-018-0541-0. [Epub ahead of print]

PMID:
29511999
6.

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

Coutton C, Vargas AS, Amiri-Yekta A, Kherraf ZE, Ben Mustapha SF, Le Tanno P, Wambergue-Legrand C, Karaouzène T, Martinez G, Crouzy S, Daneshipour A, Hosseini SH, Mitchell V, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Deleuze JF, Boland A, Hennebicq S, Satre V, Jouk PS, Thierry-Mieg N, Conne B, Dacheux D, Landrein N, Schmitt A, Stouvenel L, Lorès P, El Khouri E, Bottari SP, Fauré J, Wolf JP, Pernet-Gallay K, Escoffier J, Gourabi H, Robinson DR, Nef S, Dulioust E, Zouari R, Bonhivers M, Touré A, Arnoult C, Ray PF.

Nat Commun. 2018 Feb 15;9(1):686. doi: 10.1038/s41467-017-02792-7.

7.

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A.

Hum Mol Genet. 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034.

PMID:
29365104
8.

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.

9.

The diagnostic yield of chromosomal microarray analysis in fetuses with increased nuchal translucency: a French multicentre retrospective 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. 2017 Oct 13. doi: 10.1002/uog.18928. [Epub ahead of print]

PMID:
29027723
10.

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.

Kherraf ZE, Christou-Kent M, Karaouzene T, Amiri-Yekta A, Martinez G, Vargas AS, Lambert E, Borel C, Dorphin B, Aknin-Seifer I, Mitchell MJ, Metzler-Guillemain C, Escoffier J, Nef S, Grepillat M, Thierry-Mieg N, Satre V, Bailly M, Boitrelle F, Pernet-Gallay K, Hennebicq S, Fauré J, Bottari SP, Coutton C, Ray PF, Arnoult C.

EMBO Mol Med. 2017 Aug;9(8):1132-1149. doi: 10.15252/emmm.201607461.

11.

MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.

Donnio LM, Bidon B, Hashimoto S, May M, Epanchintsev A, Ryan C, Allen W, Hackett A, Gecz J, Skinner C, Stevenson RE, de Brouwer APM, Coutton C, Francannet C, Jouk PS, Schwartz CE, Egly JM.

Hum Mol Genet. 2017 Jun 1;26(11):2062-2075. doi: 10.1093/hmg/ddx099.

PMID:
28369444
12.

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF, Bosson C, Dieterich K, Jaillard S, Odent S, Poke G, Beddow R, Digilio MC, Novelli A, Bernardini L, Pisanti MA, Mackenroth L, Hackmann K, Vogel I, Christensen R, Fokstuen S, Béna F, Amblard F, Devillard F, Vieville G, Apostolou A, Jouk PS, Guebre-Egziabher F, Sartelet H, Coutton C.

J Med Genet. 2017 Jul;54(7):502-510. doi: 10.1136/jmedgenet-2016-104435. Epub 2017 Mar 7.

PMID:
28270404
13.

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A.

Am J Hum Genet. 2017 Jan 5;100(1):105-116. doi: 10.1016/j.ajhg.2016.11.010. Epub 2016 Dec 8.

14.

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.

Maini I, Ivanovski I, Iodice A, Rosato S, Pollazzon M, Mussini M, Belligni EF, Coutton C, Marinelli M, Barbieri V, Napoli M, Pascarella R, Sartori C, Madia F, Fusco C, Franchi F, Street ME, Garavelli L.

Mol Syndromol. 2016 Nov;7(6):337-343. Epub 2016 Oct 14.

15.

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

Bidart M, El Atifi M, Miladi S, Rendu J, Satre V, Ray PF, Bosson C, Devillard F, Lehalle D, Malan V, Amiel J, Mencarelli MA, Baldassarri M, Renieri A, Clayton-Smith J, Vieville G, Thevenon J, Amblard F, Berger F, Jouk PS, Coutton C.

Genet Med. 2017 Jun;19(6):701-710. doi: 10.1038/gim.2016.180. Epub 2016 Dec 1.

PMID:
27906199
16.

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.

Amiri-Yekta A, Coutton C, Kherraf ZE, Karaouzène T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH, Bahrami S, Daneshipour A, Bini M, Arnoult C, Colombo R, Gourabi H, Ray PF.

Hum Reprod. 2016 Dec;31(12):2872-2880. Epub 2016 Oct 26.

PMID:
27798045
17.

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.

Rendu J, Montjean R, Coutton C, Suri M, Chicanne G, Petiot A, Brocard J, Grunwald D, Pietri Rouxel F, Payrastre B, Lunardi J, Dorseuil O, Marty I, Fauré J.

Hum Mutat. 2017 Feb;38(2):152-159. doi: 10.1002/humu.23139. Epub 2016 Nov 21.

PMID:
27790796
18.

Single gene defects leading to sperm quantitative anomalies.

Mitchell MJ, Metzler-Guillemain C, Toure A, Coutton C, Arnoult C, Ray PF.

Clin Genet. 2017 Feb;91(2):208-216. doi: 10.1111/cge.12900. Epub 2016 Nov 22. Review.

PMID:
27779755
19.

Genetic abnormalities leading to qualitative defects of sperm morphology or function.

Ray PF, Toure A, Metzler-Guillemain C, Mitchell MJ, Arnoult C, Coutton C.

Clin Genet. 2017 Feb;91(2):217-232. doi: 10.1111/cge.12905. Epub 2016 Dec 9. Review.

PMID:
27779748
20.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.

Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16.

PMID:
27761913
21.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N.

Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8.

PMID:
27605097
22.

Sun proteins and Dpy19l2 forming LINC-like links are critical for spermiogenesis.

Ray PF, Coutton C, Arnoult C.

Biol Open. 2016 May 15;5(5):535-6. doi: 10.1242/bio.016626. No abstract available.

23.

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.

Wambergue C, Zouari R, Fourati Ben Mustapha S, Martinez G, Devillard F, Hennebicq S, Satre V, Brouillet S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Amblard F, Arnoult C, Ray PF, Coutton C.

Hum Reprod. 2016 Jun;31(6):1164-72. doi: 10.1093/humrep/dew083. Epub 2016 Apr 19.

PMID:
27094479
24.

Male Infertility: Genetics, Mechanism, and Therapies.

Coutton C, Fissore RA, Palermo GD, Stouffs K, Touré A.

Biomed Res Int. 2016;2016:7372362. doi: 10.1155/2016/7372362. Epub 2016 Jan 31. No abstract available.

25.

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.

Escoffier J, Lee HC, Yassine S, Zouari R, Martinez G, Karaouzène T, Coutton C, Kherraf ZE, Halouani L, Triki C, Nef S, Thierry-Mieg N, Savinov SN, Fissore R, Ray PF, Arnoult C.

Hum Mol Genet. 2016 Mar 1;25(5):878-91. doi: 10.1093/hmg/ddv617. Epub 2015 Dec 31.

26.

Commentary on "morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China".

Coutton C, Arnoult C, Ray PF.

Asian J Androl. 2016 Sep-Oct;18(5):812. doi: 10.4103/1008-682X.164195. No abstract available.

27.

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.

Bosson C, Devillard F, Satre V, Dieterich K, Ray PF, Morand B, Dubois-Teklali F, Vieville G, Andrieux J, Brouillet S, Amblard F, Jouk PS, Coutton C.

Am J Med Genet A. 2016 Feb;170A(2):498-503. doi: 10.1002/ajmg.a.37450. Epub 2015 Nov 6.

PMID:
26545049
28.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.

Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30.

PMID:
26420639
29.

Comprehensive investigation in patients affected by globozoospermia.

Coutton C, Arnoult C, Ray PF.

Andrology. 2015 Nov;3(6):1183. doi: 10.1111/andr.12096. Epub 2015 Sep 29. No abstract available.

30.

PROK1 Level in the Follicular Microenvironment: A New Noninvasive Predictive Biomarker of Embryo Implantation.

Alfaidy N, Hoffmann P, Gillois P, Gueniffey A, Lebayle C, Garçin H, Thomas-Cadi C, Bessonnat J, Coutton C, Villaret L, Quenard N, Bergues U, Feige JJ, Hennebicq S, Brouillet S.

J Clin Endocrinol Metab. 2016 Feb;101(2):435-44. doi: 10.1210/jc.2015-1988. Epub 2015 Sep 24.

PMID:
26401590
31.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.

Nambot S, Masurel A, El Chehadeh S, Mosca-Boidron AL, Thauvin-Robinet C, Lefebvre M, Marle N, Thevenon J, Perez-Martin S, Dulieu V, Huet F, Plessis G, Andrieux J, Jouk PS, Billy-Lopez G, Coutton C, Morice-Picard F, Delrue MA, Heron D, Rooryck C, Goldenberg A, Saugier-Veber P, Joly-Hélas G, Calenda P, Kuentz P, Manouvrier-Hanu S, Dupuis-Girod S, Callier P, Faivre L.

Eur J Hum Genet. 2016 Jun;24(6):830-7. doi: 10.1038/ejhg.2015.202. Epub 2015 Sep 23.

32.

13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.

Poreau B, Lin S, Bosson C, Dieterich K, Satre V, Devillard F, Guigue V, Ronin C, Brouillet S, Barbier C, Jouk PS, Coutton C.

Eur J Med Genet. 2015 Oct;58(10):526-30. doi: 10.1016/j.ejmg.2015.09.003. Epub 2015 Sep 10.

PMID:
26365529
33.

BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus.

Levet S, Ouarné M, Ciais D, Coutton C, Subileau M, Mallet C, Ricard N, Bidart M, Debillon T, Faravelli F, Rooryck C, Feige JJ, Tillet E, Bailly S.

Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3207-15. doi: 10.1073/pnas.1508386112. Epub 2015 Jun 8.

34.

Teratozoospermia: spotlight on the main genetic actors in the human.

Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF.

Hum Reprod Update. 2015 Jul-Aug;21(4):455-85. doi: 10.1093/humupd/dmv020. Epub 2015 Apr 17. Review.

PMID:
25888788
35.

Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X(0)-Linked, AR22(0)- and AR47(0)- Chronic Granulomatous Diseases.

Brault J, Goutagny E, Telugu N, Shao K, Baquié M, Satre V, Coutton C, Grunwald D, Brion JP, Barlogis V, Stephan JL, Plantaz D, Hescheler J, Krause KH, Sarić T, Stasia MJ.

Biores Open Access. 2014 Dec 1;3(6):311-26. doi: 10.1089/biores.2014.0045.

36.

Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation.

Escoffier J, Yassine S, Lee HC, Martinez G, Delaroche J, Coutton C, Karaouzène T, Zouari R, Metzler-Guillemain C, Pernet-Gallay K, Hennebicq S, Ray PF, Fissore R, Arnoult C.

Mol Hum Reprod. 2015 Feb;21(2):157-68. doi: 10.1093/molehr/gau098. Epub 2014 Oct 29.

37.

Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development.

Yassine S, Escoffier J, Martinez G, Coutton C, Karaouzène T, Zouari R, Ravanat JL, Metzler-Guillemain C, Lee HC, Fissore R, Hennebicq S, Ray PF, Arnoult C.

Mol Hum Reprod. 2015 Feb;21(2):169-85. doi: 10.1093/molehr/gau099. Epub 2014 Oct 29.

38.

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

Ounis L, Zoghmar A, Coutton C, Rouabah L, Hachemi M, Martinez D, Martinez G, Bellil I, Khelifi D, Arnoult C, Fauré J, Benbouhedja S, Rouabah A, Ray PF.

Asian J Androl. 2015 Jan-Feb;17(1):68-73. doi: 10.4103/1008-682X.136441.

39.

Array-CGH in children with mild intellectual disability: a population-based study.

Coutton C, Dieterich K, Satre V, Vieville G, Amblard F, David M, Cans C, Jouk PS, Devillard F.

Eur J Pediatr. 2015 Jan;174(1):75-83. doi: 10.1007/s00431-014-2367-6. Epub 2014 Jul 3.

PMID:
24985125
40.

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.

Rendu J, Satre V, Testard H, Devillard F, Vieville G, Fauré J, Amblard F, Jouk PS, Coutton C.

Am J Med Genet A. 2014 Aug;164A(8):2133-5. doi: 10.1002/ajmg.a.36566. Epub 2014 Apr 8. No abstract available.

PMID:
24715298
41.

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.

Le Tanno P, Poreau B, Devillard F, Vieville G, Amblard F, Jouk PS, Satre V, Coutton C.

Am J Med Genet A. 2014 Jun;164A(6):1530-6. doi: 10.1002/ajmg.a.36467. Epub 2014 Mar 19.

PMID:
24648389
42.

Characterization of the 9L gliosarcoma implanted in the Fischer rat: an orthotopic model for a grade IV brain tumor.

Bouchet A, Bidart M, Miladi I, Le Clec'h C, Serduc R, Coutton C, Regnard P, Khalil E, Dufort S, Lemasson B, Laissue J, Pelletier L, Le Duc G.

Tumour Biol. 2014 Jul;35(7):6221-33. doi: 10.1007/s13277-014-1783-6. Epub 2014 Mar 16.

PMID:
24633919
43.

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene.

Coutton C, Poreau B, Devillard F, Durand C, Odent S, Rozel C, Vieville G, Amblard F, Jouk PS, Satre V.

Mol Syndromol. 2014 Jan;5(1):25-31. doi: 10.1159/000355391. Epub 2013 Oct 2.

44.

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF.

Am J Hum Genet. 2014 Jan 2;94(1):95-104. doi: 10.1016/j.ajhg.2013.11.017. Epub 2013 Dec 19.

45.

Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.

Coutton C, Abada F, Karaouzene T, Sanlaville D, Satre V, Lunardi J, Jouk PS, Arnoult C, Thierry-Mieg N, Ray PF.

PLoS Genet. 2013 Mar;9(3):e1003363. doi: 10.1371/journal.pgen.1003363. Epub 2013 Mar 21.

46.

190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly.

Coutton C, Bidart M, Rendu J, Devillard F, Vieville G, Amblard F, Lopez G, Jouk PS, Satre V.

Clin Genet. 2013 Dec;84(6):596-9. doi: 10.1111/cge.12113. Epub 2013 Mar 25. No abstract available.

PMID:
23521658
47.

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Stasia MJ, Mollin M, Martel C, Satre V, Coutton C, Amblard F, Vieville G, van Montfrans JM, Boelens JJ, Veenstra-Knol HE, van Leeuwen K, de Boer M, Brion JP, Roos D.

Eur J Hum Genet. 2013 Oct;21(10):1079-84. doi: 10.1038/ejhg.2012.310. Epub 2013 Jan 23.

48.

Comparative testicular transcriptome of wild type and globozoospermic Dpy19l2 knock out mice.

Karaouzène T, El Atifi M, Issartel JP, Grepillat M, Coutton C, Martinez D, Arnoult C, Ray PF.

Basic Clin Androl. 2013 Sep 3;23:7. doi: 10.1186/2051-4190-23-7. eCollection 2013.

49.

Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring.

Nadeau G, Coutton C, Amblard F, Michalowicz G, Frasca S, Fertin A, Devillard F, Satre V, Usson Y, Jouk PS.

Clin Chem Lab Med. 2013 Apr;51(4):e41-4. No abstract available.

PMID:
23072851
50.

Intellectual disability, oncogenes and tumour suppressor genes: the way forward?

Bidart M, Coutton C.

J Genet. 2012 Aug;91(2):257-8. No abstract available.

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