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Items: 28

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.

Risk Estimation of Uniparental Disomy of Chromosome 14 or 15 in a Fetus with a Parent Carrying a Non-Homologous Robertsonian Translocation. Should We Still Perform Prenatal Diagnosis?

Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Molina Gomes D, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C.

Prenat Diagn. 2019 Jul 4. doi: 10.1002/pd.5518. [Epub ahead of print]

PMID:
31273809
3.

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.

Colson C, Decamp M, Gruchy N, Coudray N, Ballandonne C, Bracquemart C, Molin A, Mittre H, Takatani R, Jüppner H, Kottler ML, Richard N.

Bone. 2019 Jun;123:145-152. doi: 10.1016/j.bone.2019.03.023. Epub 2019 Mar 21.

PMID:
30905746
4.

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
5.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Alessandri JL, Gordon CT, Jacquemont ML, Gruchy N, Ajeawung NF, Benoist G, Oufadem M, Chebil A, Duffourd Y, Dumont C, Gérard M, Kuentz P, Jouan T, Filippini F, Nguyen TTM, Alibeu O, Bole-Feysot C, Nitschké P, Omarjee A, Ramful D, Randrianaivo H, Doray B, Faivre L, Amiel J, Campeau PM, Thevenon J.

Eur J Hum Genet. 2018 Mar;26(3):340-349. doi: 10.1038/s41431-017-0087-x. Epub 2018 Jan 12.

6.

Enhanced chondrogenesis of bone marrow-derived stem cells by using a combinatory cell therapy strategy with BMP-2/TGF-β1, hypoxia, and COL1A1/HtrA1 siRNAs.

Legendre F, Ollitrault D, Gomez-Leduc T, Bouyoucef M, Hervieu M, Gruchy N, Mallein-Gerin F, Leclercq S, Demoor M, Galéra P.

Sci Rep. 2017 Jun 13;7(1):3406. doi: 10.1038/s41598-017-03579-y.

7.

Immunoanalytical characteristics of unconjugated estriol: indications and analytical performances.

Lefevre C, Gruchy N, Guénet D, Renom G, Allouche S, Read MH.

Ann Biol Clin (Paris). 2016 Dec 1;74(6):717-723.

PMID:
27848923
8.

Chondrogenic commitment of human umbilical cord blood-derived mesenchymal stem cells in collagen matrices for cartilage engineering.

Gómez-Leduc T, Hervieu M, Legendre F, Bouyoucef M, Gruchy N, Poulain L, de Vienne C, Herlicoviez M, Demoor M, Galéra P.

Sci Rep. 2016 Sep 8;6:32786. doi: 10.1038/srep32786.

9.

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
10.

Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.

Viaris de le Segno B, Gruchy N, Bronfen C, Dolley P, Leporrier N, Creveuil C, Benoist G.

J Clin Ultrasound. 2016 Feb;44(2):100-5. doi: 10.1002/jcu.22275. Epub 2015 Jul 14.

PMID:
26179848
11.

Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

Marcato L, Turolla L, Pompilii E, Dupont C, Gruchy N, De Toffol S, Bracalente G, Bacrot S, Troilo E, Tabet AC, Rossi S, Delezoïde AL, Baldo D, Leporrier N, Maggi F, Molin A, Pilu G, Simoni G, Vialard F, Grati FR.

Clin Case Rep. 2014 Apr;2(2):25-32. doi: 10.1002/ccr3.48. Epub 2014 Feb 6.

12.

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
13.

Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes.

Gruchy N, Bigot N, Jeanne Pasquier C, Read MH, Odent S, Galera P, Leporrier N.

Mol Genet Metab. 2014 Jun;112(2):177-82. doi: 10.1016/j.ymgme.2014.03.009. Epub 2014 Mar 31.

14.

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
15.

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

Molin A, Benoist G, Jeanne-Pasquier C, Elkartoufi N, Litzer J, Decamp M, Gruchy N, Durand-Malbruny M, Begorre M, Attie-Bitach T, Leporrier N.

Eur J Med Genet. 2013 Oct;56(10):580-3. doi: 10.1016/j.ejmg.2013.08.002. Epub 2013 Aug 15.

PMID:
23954617
16.

De novo 15q13.3 microdeletion with cryptogenic West syndrome.

Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M.

Am J Med Genet A. 2013 Oct;161A(10):2582-7. doi: 10.1002/ajmg.a.36085. Epub 2013 Aug 8.

PMID:
23929658
17.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M.

Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 17.

18.

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.

Richard N, Abeguilé G, Coudray N, Mittre H, Gruchy N, Andrieux J, Cathebras P, Kottler ML.

J Clin Endocrinol Metab. 2012 May;97(5):E863-7. doi: 10.1210/jc.2011-2804. Epub 2012 Feb 29.

PMID:
22378814
19.

Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA.

Gruchy N, Decamp M, Richard N, Jeanne-Pasquier C, Benoist G, Mittre H, Leporrier N.

Prenat Diagn. 2012 Apr;32(4):383-8. doi: 10.1002/pd.2861. Epub 2011 Oct 24.

PMID:
22025315
20.

Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome.

Gruchy N, Vialard F, Decamp M, Choiset A, Rossi A, Le Meur N, Moirot H, Yardin C, Bonnet-Dupeyron MN, Lespinasse J, Herbaut-Graux M, Till M, Layet V, Leporrier N.

Hum Reprod. 2011 Sep;26(9):2570-5. doi: 10.1093/humrep/der193. Epub 2011 Jul 5.

PMID:
21733853
22.

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

Devillard F, Guinchat V, Moreno-De-Luca D, Tabet AC, Gruchy N, Guillem P, Nguyen Morel MA, Leporrier N, Leboyer M, Jouk PS, Lespinasse J, Betancur C.

Am J Med Genet A. 2010 Sep;152A(9):2346-54. doi: 10.1002/ajmg.a.33601.

23.

A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations.

Gruchy N, Barreau M, Kessler K, Gourdier D, Leporrier N.

Am J Med Genet A. 2010 Jan;152A(1):185-90. doi: 10.1002/ajmg.a.33154.

PMID:
20034065
24.

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.

Daoud H, Gruchy N, Constans JM, Moussaoui E, Saumureau S, Bayou N, Amy M, Védrine S, Vu PY, Rötig A, Laumonnier F, Vourc'h P, Andres CR, Leporrier N, Briault S.

Hum Genet. 2009 Jan;124(6):649-58. doi: 10.1007/s00439-008-0588-3. Epub 2008 Nov 16.

PMID:
19011903
25.

Supernumerary marker chromosomes management in prenatal diagnosis.

Gruchy N, Lebrun M, Herlicoviez M, Alliet J, Gourdier D, Kottler ML, Mittre H, Leporrier N.

Am J Med Genet A. 2008 Nov 1;146A(21):2770-6. doi: 10.1002/ajmg.a.32532.

PMID:
18925665
26.

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF.

Am J Med Genet A. 2007 Oct 15;143A(20):2417-22.

PMID:
17853488
27.

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

Portnoï MF, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, Odent S, Siffroi JP, Le Bouc Y, Houang M.

Clin Dysmorphol. 2007 Oct;16(4):247-52.

PMID:
17786116
28.

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.

Am J Med Genet A. 2005 Aug 15;137(1):47-51. Review.

PMID:
16007629

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