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Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage.

Okutman O, Gürbüz AS, Büyük U, Real E, Leconte R, Chennen K, Mayer C, Muller J, Le May N, Viville S

J Assist Reprod Genet. 2024 01 5;:

Genetics of infertility: a paradigm shift for medically assisted reproduction.

Verpoest W, Okutman Ö, Van Der Kelen A, Sermon K, Viville S

Hum Reprod. 2023 10 5;:

Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.

Boursier A, Boudry A, Mitchell V, Loyens A, Rives N, Moerman A, Thomas L, Escudier E, Toure A, Whitfield M, Coutton C, Martinez G, Ray PF, Kherraf ZE, Viville S, Legendre M, Smol T, Robin G, Barbotin AL

Reprod Biomed Online. 2023 08 7;47(5):103328

A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.

Van Der Kelen A, Okutman Ö, Javey E, Serdarogullari M, Janssens C, Ghosh MS, Dequeker BJH, Perold F, Kastner C, Kieffer E, Segers I, Gheldof A, Hes FJ, Sermon K, Verpoest W, Viville S

Hum Reprod Update. 2022 12 26;:

A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.

Okutman O, Boivin M, Muller J, Charlet-Berguerand N, Viville S

Hum Reprod. 2022 12 16;:

Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.

Okutman O, Tarabeux J, Muller J, Viville S

Genes (Basel). 2021 Mar 12;12(3):

Programmed Cell Death 2-like () Is Required for Mouse Embryonic Development.

Houston BJ, Oud MS, Aguirre DM, Merriner DJ, O'Connor AE, Okutman O, Viville S, Burke R, Veltman JA, O'Bryan MK

G3 (Bethesda). 2020 Oct 14;:

Homozygous Splice Site Mutation in Causes Familial Oocyte Maturation Defect.

Okutman Ö, Demirel C, Tülek F, Pfister V, Büyük U, Muller J, Charlet-Berguerand N, Viville S

Genes (Basel). 2020 Apr 1;11(4):

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.

Oud MS, Okutman Ö, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA

Hum. Reprod.. 2020 Jan 27;:

Toxoplasma gondii ROP16 kinase silences the cyclin B1 gene promoter by hijacking host cell UHRF1-dependent epigenetic pathways.

Sabou M, Doderer-Lang C, Leyer C, Konjic A, Kubina S, Lennon S, Rohr O, Viville S, Cianférani S, Candolfi E, Pfaff AW, Brunet J

Cell. Mol. Life Sci.. 2019 Sep 6;:

Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients.

Ghédir H, Braham A, Viville S, Saad A, Ibala-Romdhane S

Andrologia. 2019 Mar 26;:e13277

[Genetic aspects of male infertility: From bench to clinic].

Ben Rhouma M, Okutman O, Muller J, Benkhalifa M, Bahri H, Ben Rhouma K, Tebourbi O, Viville S

Gynecol Obstet Fertil Senol. 2018 Dec 1;:

Genetic evaluation of patients with non-syndromic male infertility.

Okutman O, Rhouma MB, Benkhalifa M, Muller J, Viville S

J. Assist. Reprod. Genet.. 2018 Sep 26;:

Random Mutagenesis, Clonal Events, and Embryonic or Somatic Origin Determine the mtDNA Variant Type and Load in Human Pluripotent Stem Cells.

Zambelli F, Mertens J, Dziedzicka D, Sterckx J, Markouli C, Keller A, Tropel P, Jung L, Viville S, Van de Velde H, Geens M, Seneca S, Sermon K, Spits C

Stem Cell Reports. 2018 Jun 7;:

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S, Macek M,

Eur. J. Hum. Genet.. 2018 Jan;26(1):12-33

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.

Oud MS, Ramos L, O'Bryan MK, McLachlan RI, Okutman Ö, Viville S, de Vries PF, Smeets DFCM, Lugtenberg D, Hehir-Kwa JY, Gilissen C, van de Vorst M, Vissers LELM, Hoischen A, Meijerink AM, Fleischer K, Veltman JA, Noordam MJ

Hum. Mutat.. 2017 Aug;:

CpG island methylation correlates with the use of alternative promoter for USP44 gene expression in human pluripotent stem cells and testis.

Tropel P, Jung L, André C, Ndandougou A, Viville S

Stem Cells Dev.. 2017 May;:

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.

Okutman O, Muller J, Skory V, Garnier JM, Gaucherot A, Baert Y, Lamour V, Serdarogullari M, Gultomruk M, Röpke A, Kliesch S, Herbepin V, Aknin I, Benkhalifa M, Teletin M, Bakircioglu E, Goossens E, Charlet-Berguerand N, Bahceci M, Tüttelmann F, Viville S

J. Assist. Reprod. Genet.. 2017 Apr;:

Tex19 paralogs are new members of the piRNA pathway controlling retrotransposon suppression.

Tarabay Y, Achour M, Teletin M, Ye T, Teissandier A, Mark M, Bourc'his D, Viville S

J. Cell. Sci.. 2017 Mar;:

Adjuncts in the IVF laboratory: where is the evidence for 'add-on' interventions?

Harper J, Jackson E, Sermon K, Aitken RJ, Harbottle S, Mocanu E, Hardarson T, Mathur R, Viville S, Vail A, Lundin K

Hum. Reprod.. 2017 Jan;:1-7

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications.

Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S, Macek M,

Hum Reprod Open. 2017 ;2017(3):hox015

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

Sellier C, Buijsen RA, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N

Neuron. 2017 Jan;93(2):331-347

A new mutation identified in SPATA16 in two globozoospermic patients.

ElInati E, Fossard C, Okutman O, Ghédir H, Ibala-Romdhane S, Ray PF, Saad A, Hennebicq S, Viville S

J. Assist. Reprod. Genet.. 2016 Jun;33(6):815-20

DAZL and CPEB1 regulate mRNA translation synergistically during oocyte maturation.

Sousa Martins JP, Liu X, Oke A, Arora R, Franciosi F, Viville S, Laird DJ, Fung JC, Conti M

J. Cell. Sci.. 2016 Mar;129(6):1271-82

What is really driving cell-surface interactions? Layer-by-layer assembled films may help to answer questions concerning cell attachment and response to biomaterials.

Sergeeva YN, Huang T, Felix O, Jung L, Tropel P, Viville S, Decher G

Biointerphases. 2016 Mar;11(2):019009

Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.

Ghédir H, Ibala-Romdhane S, Okutman O, Viot G, Saad A, Viville S

Mol. Hum. Reprod.. 2016 Jan;22(1):35-45

Increased pregnancy rate using standardized coculture on autologous endometrial cells and single blastocyst transfer : a multicentre randomized controlled trial.

Ohl J, de Mouzon J, Nicollet B, Benoussaïdh A, Gouze JN, Viville S, Menezo Y

Cell. Mol. Biol. (Noisy-le-grand). 2015 Dec;61(8):79-88

Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.

Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S

Hum Mol Genet. 2015 Jul 21. pii: ddv290.

Tex19 and Sectm1 concordant molecular phylogenies support co-evolution of both eutherian-specific genes.

Bianchetti L, Tarabay Y, Lecompte O, Stote R, Poch O, Dejaegere A, Viville S

BMC Evol Biol. 2015 Oct 12;15:222

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.

Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kaariainen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr

Hum Reprod. 2014 Aug;29(8):1603-9

ONSL and OSKM cocktails act synergistically in reprogramming human somatic cells into induced pluripotent stem cells.

Jung L, Tropel P, Moal Y, Teletin M, Jeandidier E, Gayon R, Himmelspach C, Bello F, Andre C, Tosch A, Mansouri A, Bruant-Rodier C, Bouille P, Viville S

Mol Hum Reprod. 2014 Jun;20(6):538-49

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

Harper JC, Geraedts J, Borry P, Cornel MC, Dondorp W, Gianaroli L, Harton G, Milachich T, Kaariainen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr

Eur J Hum Genet. 2013 Nov;21 Suppl 2:S1-21

The mammalian-specific Tex19.1 gene plays an essential role in spermatogenesis and placenta-supported development.

Tarabay Y, Kieffer E, Teletin M, Celebi C, Van Montfoort A, Zamudio N, Achour M, El Ramy R, Gazdag E, Tropel P, Mark M, Bourc'his D, Viville S

Hum Reprod. 2013 Aug;28(8):2201-14

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.

Hick A, Wattenhofer-Donze M, Chintawar S, Tropel P, Simard JP, Vaucamps N, Gall D, Lambot L, Andre C, Reutenauer L, Rai M, Teletin M, Messaddeq N, Schiffmann SN, Viville S, Pearson CE, Pandolfo M, Puccio H

Dis Model Mech. 2013 May;6(3):608-21

Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status.

Kuentz P, Vanden Meerschaut F, Elinati E, Nasr-Esfahani MH, Gurgan T, Iqbal N, Carre-Pigeon F, Brugnon F, Gitlin SA, Velez de la Calle J, Kilani Z, De Sutter P, Viville S

Hum Reprod. 2013 Apr;28(4):1054-61

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.

Thauvin-Robinet C, Munck A, Huet F, de Becdelievre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nove-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrezet MP, Ferec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gerard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E

J Med Genet. 2013 Apr;50(4):220-7

TRIM28 repression of retrotransposon-based enhancers is necessary to preserve transcriptional dynamics in embryonic stem cells.

Rowe HM, Kapopoulou A, Corsinotti A, Fasching L, Macfarlan TS, Tarabay Y, Viville S, Jakobsson J, Pfaff SL, Trono D

Genome Res. 2013 Mar;23(3):452-61

Autosomal mutations and human spermatogenic failure.

El Inati E, Muller J, Viville S

Biochim Biophys Acta. 2012 Dec;1822(12):1873-9

Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.

Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, Guichet A, May-Panloup P, Mitchell V, Rollet J, Triki C, Merdassi G, Vialard F, Koscinski I, Viville S, Keskes L, Soulie JP, Rives N, Dorphin B, Lestrade F, Hesters L, Poirot C, Benzacken B, Jouk PS, Satre V, Hennebicq S, Arnoult C, Lunardi J, Ray PF

Hum Reprod. 2012 Nov;27(11):3337-46

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, Bisharah M, Pigeon FC, Gourabi H, De Briel D, Brugnon F, Gitlin SA, Grillo JM, Ghaedi K, Deemeh MR, Tanhaei S, Modarres P, Heindryckx B, Benkhalifa M, Nikiforaki D, Oehninger SC, De Sutter P, Muller J, Viville S

Hum Mol Genet. 2012 Aug 15;21(16):3695-702

A dual role of linker histone H1.4 Lys 34 acetylation in transcriptional activation.

Kamieniarz K, Izzo A, Dundr M, Tropberger P, Ozretic L, Kirfel J, Scheer E, Tropel P, Wisniewski JR, Tora L, Viville S, Buettner R, Schneider R

Genes Dev. 2012 Apr 15;26(8):797-802

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.

Van Rij MC, De Rademaeker M, Moutou C, Dreesen JC, De Rycke M, Liebaers I, Geraedts JP, De Die-Smulders CE, Viville S

Eur J Hum Genet. 2012 Apr;20(4):368-75

Assisted reproduction treatment and epigenetic inheritance.

van Montfoort AP, Hanssen LL, de Sutter P, Viville S, Geraedts JP, de Boer P

Hum Reprod Update. 2012 Mar-Apr;18(2):171-97

Human induced pluripotent stem cells improve stroke outcome and reduce secondary degeneration in the recipient brain.

Polentes J, Jendelova P, Cailleret M, Braun H, Romanyuk N, Tropel P, Brenot M, Itier V, Seminatore C, Baldauf K, Turnovcova K, Jirak D, Teletin M, Come J, Tournois J, Reymann K, Sykova E, Viville S, Onteniente B

Cell Transplant. 2012;21(12):2587-602

Tex 19 paralogs exhibit a gonad and placenta-specific expression in the mouse.

Celebi C, van Montfoort A, Skory V, Kieffer E, Kuntz S, Mark M, Viville S

J Reprod Dev. 2012;58(3):360-5

Autism, imprinting and epigenetic disorders: a metabolic syndrome linked to anomalies in homocysteine recycling starting in early life??

Menezo Y, Mares P, Cohen M, Brack M, Viville S, Elder K

J Assist Reprod Genet. 2011 Dec;28(12):1143-5

DPY19L2 deletion as a major cause of globozoospermia.

Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray PF, Kilani Z, Barratt CL, Viville S

Am J Hum Genet. 2011 Mar 11;88(3):344-50.

Extended passaging increases the efficiency of neural differentiation from induced pluripotent stem cells.

Koehler KR, Tropel P, Theile JW, Kondo T, Cummins TR, Viville S, Hashino E

BMC Neurosci. 2011 Aug 10;12:82.

Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine.

Lapillonne H, Kobari L, Mazurier C, Tropel P, Giarratana MC, Zanella-Cleon I, Kiger L, Wattenhofer-Donze M, Puccio H, Hebert N, Francina A, Andreu G, Viville S, Douay L

Haematologica. 2010 Oct;95(10):1651-9

High-efficiency derivation of human embryonic stem cell lines following pre-implantation genetic diagnosis.

Tropel P, Tournois J, Come J, Varela C, Moutou C, Fragner P, Cailleret M, Laabi Y, Peschanski M, Viville S

In Vitro Cell Dev Biol Anim. 2010 Apr;46(3-4):376-85

Genetic diagnosis of embryos: clear explanation, not rhetoric, is needed.

Bouffard C, Viville S, Knoppers BM

CMAJ. 2009 Sep 15;181(6-7):387-91

Highly dynamic and sex-specific expression of microRNAs during early ES cell differentiation.

Ciaudo C, Servant N, Cognat V, Sarazin A, Kieffer E, Viville S, Colot V, Barillot E, Heard E, Voinnet O

PLoS Genet. 2009 Aug;5(8):e1000620

Creation of a registry for human embryonic stem cells carrying an inherited defect: joint collaboration between ESHRE and hESCreg.

Sermon KD, Simon C, Braude P, Viville S, Borstlap J, Veiga A

Hum Reprod. 2009 Jul;24(7):1556-60

The pluripotency-associated gene Dppa4 is dispensable for embryonic stem cell identity and germ cell development but essential for embryogenesis.

Madan B, Madan V, Weber O, Tropel P, Blum C, Kieffer E, Viville S, Fehling HJ

Mol Cell Biol. 2009 Jun;29(11):3186-203

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.

Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, Prisant N, Zoghmar A, Guichaoua MR, Koscinski I, Kharouf M, Noruzinia M, Nadifi S, Sefiani A, Lornage J, Zahi M, Viville S, Sele B, Jouk PS, Jacob MC, Escalier D, Nikas Y, Hennebicq S, Lunardi J, Ray PF

Hum Mol Genet. 2009 Apr 1;18(7):1301-9

Encouraging results despite complexity of multidisciplinary care of HIV-infected women using assisted reproduction techniques.

Ohl J, Partisani M, Wittemer C, Lang JM, Viville S, Favre R

Hum Reprod. 2005 Nov;20(11):3136-40

Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect.

Machev N, Gosset P, Warter S, Treger M, Schillinger M, Viville S

Fertil Steril. 2005 Aug;84(2):365-73.

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