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Items: 16

1.

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.

Cassinari K, Quenez O, Joly-Hélas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, Frebourg T, Nicolas G, Sarafan-Vasseur N, Chambon P.

Clin Chem. 2019 Jul 10. pii: clinchem.2019.304246. doi: 10.1373/clinchem.2019.304246. [Epub ahead of print]

PMID:
31292136
2.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D.

J Med Genet. 2019 Mar 28. pii: jmedgenet-2018-105778. doi: 10.1136/jmedgenet-2018-105778. [Epub ahead of print]

PMID:
30923172
3.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S.

Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10.

PMID:
30639322
4.

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

Gruchy N, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez Pocquet M, Lebel-Roy C, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge-Rame MA, Vago P, Valduga M, Leporrier N, Vialard F.

Prenat Diagn. 2016 Jun;36(6):523-9. doi: 10.1002/pd.4817. Epub 2016 May 10.

PMID:
27018091
5.

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.

6.

Chromosomal instability but lack of transformation in human myoblast preparations.

Bisson A, Le Corre S, Joly-Helas G, Chambon P, Demoulins L, Jean L, Adriouch S, Drouot L, Giverne C, Roussel F, Jacquot S, Doucet C, Michot F, Lamacz M, Frébourg T, Flaman JM, Boyer O.

Cell Transplant. 2014;23(12):1475-87. doi: 10.3727/096368913X670192.

PMID:
25565635
7.

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

Gruchy N, Vialard F, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaut-Graux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez M, Lebel Roy Camille L, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge Rame M, Vago P, Valduga M, Leporrier N.

Prenat Diagn. 2014 Dec;34(12):1133-8. doi: 10.1002/pd.4439. Epub 2014 Jul 22.

PMID:
24961405
8.

[Malignant meningioma with adenocarcinoma-like metaplasia: a rare entity to be not misdiagnosed].

Marguet F, Proust F, Crahes M, Basset C, Joly-Helas G, Chambon P, Laquerrière A.

Ann Pathol. 2014 Jun;34(3):223-7. doi: 10.1016/j.annpat.2014.03.004. Epub 2014 May 17. French.

PMID:
24950872
9.

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
10.

The feasibility of fertility preservation in adolescents with Klinefelter syndrome.

Rives N, Milazzo JP, Perdrix A, Castanet M, Joly-Hélas G, Sibert L, Bironneau A, Way A, Macé B.

Hum Reprod. 2013 Jun;28(6):1468-79. doi: 10.1093/humrep/det084. Epub 2013 Mar 28.

PMID:
23539613
11.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet AC, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier MP, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Fellmann F, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca AL, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.

Clin Genet. 2014 Mar;85(3):233-44. doi: 10.1111/cge.12138. Epub 2013 Apr 5.

PMID:
23489061
12.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D.

Arch Gen Psychiatry. 2009 Sep;66(9):947-56. doi: 10.1001/archgenpsychiatry.2009.80. Review.

13.

Complex chromosomal rearrangement and intracytoplasmic sperm injection: a case report.

Joly-Helas G, de La Rochebrochard C, Mousset-Siméon N, Moirot H, Tiercin C, Romana SP, Le Caignec C, Clavier B, Macé B, Rives N.

Hum Reprod. 2007 May;22(5):1292-7. Epub 2007 Feb 5.

PMID:
17283038
14.

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

Saugier-Veber P, Goldenberg A, Drouin-Garraud V, de La Rochebrochard C, Layet V, Drouot N, Le Meur N, Gilbert-Du-Ssardier B, Joly-Hélas G, Moirot H, Rossi A, Tosi M, Frébourg T.

Eur J Hum Genet. 2006 Sep;14(9):1009-17. Epub 2006 Jun 14.

15.

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.

de La Rochebrochard C, Joly-Hélas G, Goldenberg A, Durand I, Laquerrière A, Ickowicz V, Saugier-Veber P, Eurin D, Moirot H, Diguet A, de Kergal F, Tiercin C, Mace B, Marpeau L, Frebourg T.

Am J Med Genet A. 2006 Jul 15;140(14):1608-13. No abstract available.

PMID:
16761289
16.

Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.

Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A.

Am J Med Genet A. 2005 May 1;134(4):439-42.

PMID:
15810003

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