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Items: 37

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.

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.

Salaun G, Tchirkov A, Francannet C, Pons H, Brugnon F, Pebrel-Richard C, Gouas L, Eymard-Pierre E, Vago P, Goumy C.

Reprod Biomed Online. 2018 Jul;37(1):100-106. doi: 10.1016/j.rbmo.2018.03.019. Epub 2018 Apr 9.

PMID:
29680196
3.

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.

4.

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.

Kemeny S, Tatout C, Salaun G, Pebrel-Richard C, Goumy C, Ollier N, Maurin E, Pereira B, Vago P, Gouas L.

Chromosoma. 2018 Jun;127(2):247-259. doi: 10.1007/s00412-017-0653-6. Epub 2017 Dec 14.

PMID:
29238858
5.

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.

Goumy C, Gay-Bellile M, Salaun G, Kemeny S, Eymard-Pierre E, Biard M, Pebrel-Richard C, Vanlieferinghen P, Francannet C, Tchirkov A, Laurichesse H, Rouzade C, Gouas L, Vago P.

Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):793-7. doi: 10.1002/bdra.23535. Epub 2016 Jun 27.

PMID:
27346851
6.

Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage.

Mellali S, Haoud K, Gouas L, Khaled MB, Vago P, Moulessehoul S.

S Afr Med J. 2015 Sep 19;105(10):870-3. doi: 10.7196/SAMJnew.8121.

PMID:
26428596
7.

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.

Gouas L, Kémény S, Beaufrère AM, Eymard-Pierre E, Pebrel-Richard C, Tchirkov A, Lemery D, Laurichesse-Delmas H, Vago P, Goumy C.

Cytogenet Genome Res. 2015;146(1):28-32. doi: 10.1159/000435865. Epub 2015 Jul 21.

PMID:
26201711
8.

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.

Grati FR, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, Horelli-Kuitunen N, Choy KW, García-Herrero S, de la Vega AG, Piotrowski K, Genesio R, Queipo G, Malvestiti B, Hervé B, Benzacken B, Novelli A, Vago P, Piippo K, Leung TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F.

Prenat Diagn. 2015 Aug;35(8):801-9. doi: 10.1002/pd.4613. Epub 2015 Jun 24.

PMID:
25962607
9.

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L, Gallot D, Francannet C, Tchirkov A, Pebrel-Richard C, Vago P.

Am J Med Genet A. 2015 Jan;167A(1):250-3. doi: 10.1002/ajmg.a.36840. Epub 2014 Nov 25.

PMID:
25425496
10.

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.

Pebrel-Richard C, Rouzade C, Kemeny S, Eymard-Pierre E, Gay-Bellile M, Gouas L, Tchirkov A, Goumy C, Vago P.

Am J Med Genet A. 2014 Nov;164A(11):2964-7. doi: 10.1002/ajmg.a.36715. Epub 2014 Aug 14. No abstract available.

PMID:
25124455
11.

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay-Bellile M, Gouas L, Goumy C, Tchirkov A, Francannet C, Vago P.

Eur J Med Genet. 2014 Oct;57(10):552-7. doi: 10.1016/j.ejmg.2014.07.003. Epub 2014 Aug 6.

PMID:
25106685
12.

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

Goumy C, Gay-Bellile M, Eymard-Pierre E, Kemeny S, Gouas L, Déchelotte P, Gallot D, Véronèse L, Tchirkov A, Pebrel-Richard C, Vago P.

Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):507-11. doi: 10.1002/bdra.23246. Epub 2014 Apr 18.

PMID:
24753315
13.

Prevalence of aneuploidies in products of spontaneous abortion: interest of FISH and MLPA.

Haoud K, Mellali S, Gouas L, Tchirkov A, Vago P, Moulessehoul S.

Morphologie. 2014 Mar;98(320):40-6. doi: 10.1016/j.morpho.2014.02.001. Epub 2014 Mar 16.

PMID:
24646446
14.

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Pebrel-Richard C, Debost-Legrand A, Eymard-Pierre E, Greze V, Kemeny S, Gay-Bellile M, Gouas L, Tchirkov A, Vago P, Goumy C, Francannet C.

Eur J Hum Genet. 2014 Mar;22(3):369-73. doi: 10.1038/ejhg.2013.141. Epub 2013 Jul 17.

15.

Prenatal ultrasound diagnosis of a 48,XXYY syndrome.

Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P.

Morphologie. 2013 Jun;97(317):65-7. doi: 10.1016/j.morpho.2013.01.001. Epub 2013 Mar 7.

PMID:
23473874
16.

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.

Debost-Legrand A, Eymard-Pierre E, Pebrel-Richard C, Gouas L, Goumy C, Giollant M, Ayed W, Tchirkov A, Francannet C, Vago P.

Am J Med Genet A. 2013 Jan;161A(1):162-5. doi: 10.1002/ajmg.a.35614. Epub 2012 Dec 13.

PMID:
23239647
17.

[Trisomy 21 and cancers].

Ayed W, Gouas L, Penault-Llorca F, Amouri A, Tchirkov A, Vago P.

Morphologie. 2012 Oct;96(314-315):57-66. doi: 10.1016/j.morpho.2012.10.001. Epub 2012 Nov 7. Review. French.

PMID:
23141635
18.

Telomeres and chromosomal instability in chronic lymphocytic leukemia.

Véronèse L, Tournilhac O, Callanan M, Prie N, Kwiatkowski F, Combes P, Chauvet M, Davi F, Gouas L, Verrelle P, Guièze R, Vago P, Bay JO, Tchirkov A.

Leukemia. 2013 Feb;27(2):490-3. doi: 10.1038/leu.2012.194. Epub 2012 Jul 13. No abstract available.

PMID:
22878603
19.

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, Tchirkov A, Goumy C, Vago P.

Eur J Med Genet. 2012 Nov;55(11):650-5. doi: 10.1016/j.ejmg.2012.06.014. Epub 2012 Jul 14.

PMID:
22796526
20.

Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant.

Goumy C, Kemeny S, Eymard-Pierre E, Richard C, Gouas L, Combes P, Gay-Bellile M, Gallot D, Tchirkov A, Vago P.

Gene. 2011 Dec 15;490(1-2):15-7. doi: 10.1016/j.gene.2011.09.008. Epub 2011 Oct 1.

PMID:
21989483
21.

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.

Debost-Legrand A, Capri Y, Gouas L, Pebrel-Richard C, Veronese L, Tchirkov A, Haoud K, Boespflug-Tanguy O, Goumy C, Vago P.

Pathol Biol (Paris). 2011 Dec;59(6):309-13. doi: 10.1016/j.patbio.2010.11.004. Epub 2010 Dec 9.

PMID:
21145667
22.

Retinoid pathway and congenital diaphragmatic hernia: hypothesis from the analysis of chromosomal abnormalities.

Goumy C, Gouas L, Marceau G, Coste K, Veronese L, Gallot D, Sapin V, Vago P, Tchirkov A.

Fetal Diagn Ther. 2010;28(3):129-39. doi: 10.1159/000313331. Epub 2010 May 26. Review.

23.

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

Goumy C, Gouas L, Pebrel-Richard C, Véronèse L, Eymard-Pierre E, Debost-Legrand A, Haoud K, Tchirkov A, Vago P.

Genet Med. 2010 Jun;12(6):376-80. doi: 10.1097/GIM.0b013e3181e074c6.

PMID:
20453657
24.

Fetal skin fibroblasts: a cell model for studying the retinoid pathway in congenital diaphragmatic hernia.

Goumy C, Coste K, Marceau G, Gouas L, Tchirkov A, Vago P, Gallot D, Sapin V.

Birth Defects Res A Clin Mol Teratol. 2010 Mar;88(3):195-200. doi: 10.1002/bdra.20647.

PMID:
20063272
25.

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.

Probst V, Wilde AA, Barc J, Sacher F, Babuty D, Mabo P, Mansourati J, Le Scouarnec S, Kyndt F, Le Caignec C, Guicheney P, Gouas L, Albuisson J, Meregalli PG, Le Marec H, Tan HL, Schott JJ.

Circ Cardiovasc Genet. 2009 Dec;2(6):552-7. doi: 10.1161/CIRCGENETICS.109.853374. Epub 2009 Sep 29.

PMID:
20031634
26.

A thrombocytosis occurring in Philadelphia positive CML in molecular response to imatinib can reveal an underlying JAK2(V617F) myeloproliferative neoplasm.

Véronèse L, Tchirkov A, Richard-Pebrel C, Ledoux-Pilon A, Fleury J, Chaleteix C, Goumy C, Gouas L, Berger MG, Vago P, Bay JO, Tournilhac O.

Leuk Res. 2010 Apr;34(4):e94-6. doi: 10.1016/j.leukres.2009.09.025. Epub 2009 Oct 14. No abstract available.

PMID:
19833389
27.

Strong correlation between VEGF and MCL-1 mRNA expression levels in B-cell chronic lymphocytic leukemia.

Véronèse L, Tournilhac O, Verrelle P, Davi F, Dighiero G, Chautard E, Veyrat-Masson R, Kwiatkowski F, Goumy C, Gouas L, Bay JO, Vago P, Tchirkov A.

Leuk Res. 2009 Dec;33(12):1623-6. doi: 10.1016/j.leukres.2009.05.003. Epub 2009 May 31.

PMID:
19487028
28.

Familial deletion 11q14.3-q22.1 without apparent phenotypic consequences: a haplosufficient 8.5 Mb region.

Goumy C, Gouas L, Tchirkov A, Roucaute T, Giollant M, Veronèse L, Francannet C, Vago P.

Am J Med Genet A. 2008 Oct 15;146A(20):2668-72. doi: 10.1002/ajmg.a.32511.

PMID:
18798310
29.

[Prognosis of chronic lymphocytic leukemia: focus on recent biomarkers].

Véronèse L, Tchirkov A, Gouas L, Périssel B, Goumy C, Vago P.

Ann Biol Clin (Paris). 2008 Jul-Aug;66(4):371-7. doi: 10.1684/abc.2008.0246. Review. French.

30.

Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

Gouas L, Goumy C, Véronèse L, Tchirkov A, Vago P.

Pathol Biol (Paris). 2008 Sep;56(6):345-53. doi: 10.1016/j.patbio.2008.03.010. Epub 2008 Jun 2. Review.

PMID:
18513889
31.

Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

Blanc P, Gouas L, Francannet C, Giollant M, Vago P, Goumy C.

Am J Med Genet A. 2008 May 15;146A(10):1307-11. doi: 10.1002/ajmg.a.32278. Review.

PMID:
18384146
32.

Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p.

Goumy C, Beaufrère AM, Tchirkov A, Gouas L, Gaspard F, Giollant M, Roucaute T, Veronèse L, Lemery D, Vago P.

Prenat Diagn. 2008 Feb;28(2):131-4. doi: 10.1002/pd.1928.

PMID:
18236428
33.

The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases.

Six I, Hermida JS, Huang H, Gouas L, Fressart V, Benammar N, Hainque B, Denjoy I, Chahine M, Guicheney P.

Europace. 2008 Jan;10(1):79-85. Epub 2007 Dec 21.

PMID:
18156160
34.

Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.

Gouas L, Nicaud V, Chaouch S, Berthet M, Forhan A, Tichet J, Tiret L, Balkau B, Guicheney P.

Eur J Hum Genet. 2007 Sep;15(9):974-9. Epub 2007 May 30.

35.

A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state.

Keller DI, Barrane FZ, Gouas L, Martin J, Pilote S, Suarez V, Osswald S, Brink M, Guicheney P, Schwick N, Chahine M.

Can J Cardiol. 2005 Sep;21(11):925-31.

PMID:
16239976
36.

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, Guicheney P; D.E.S.I.R. Study Group.

Eur J Hum Genet. 2005 Nov;13(11):1213-22.

37.

New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.

Gouas L, Bellocq C, Berthet M, Potet F, Demolombe S, Forhan A, Lescasse R, Simon F, Balkau B, Denjoy I, Hainque B, Baró I, Guicheney P; D.E.S.I.R. Study Group.

Cardiovasc Res. 2004 Jul 1;63(1):60-8.

PMID:
15194462

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