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Items: 1 to 20 of 109

1.

Persistent osteoarticular pain in children: early clinical and laboratory findings suggestive of acute lymphoblastic leukemia (a multicenter case-control study of 147 patients).

Louvigné M, Rakotonjanahary J, Goumy L, Tavenard A, Brasme JF, Rialland F, Baruchel A, Auclerc MF, Despert V, Desgranges M, Jean S, Faye A, Meinzer U, Lorrot M, Job-Deslandre C, Bader-Meunier B, Gandemer V, Pellier I; GOCE Group.

Pediatr Rheumatol Online J. 2020 Jan 2;18(1):1. doi: 10.1186/s12969-019-0376-8.

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, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C.

Prenat Diagn. 2019 Oct;39(11):986-992. doi: 10.1002/pd.5518. Epub 2019 Aug 19.

PMID:
31273809
3.

Incidence of paediatric pneumococcal meningitis and emergence of new serotypes: a time-series analysis of a 16-year French national survey.

Ouldali N, Levy C, Varon E, Bonacorsi S, Béchet S, Cohen R, Angoulvant F; French Pediatric Meningitis Network.

Lancet Infect Dis. 2018 Sep;18(9):983-991. doi: 10.1016/S1473-3099(18)30349-9. Epub 2018 Jul 23.

PMID:
30049623
4.

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
5.

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
6.

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
7.

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype.

Kemeny S, Brugnon F, Eymard-Pierre E, Goumy C, Janny L, Tchirkov A, Francannet C, Vago P, Pebrel-Richard C.

Asian J Androl. 2017 Jan-Feb;19(1):135-137. doi: 10.4103/1008-682X.172818. No abstract available.

8.

Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study.

Debost-Legrand A, Ouchchane L, Francannet C, Goumy C, Perthus I, Beaufrère AM, Gallot D, Lemery D, Lusson JR, Laurichesse-Delmas H.

Birth Defects Res A Clin Mol Teratol. 2016 Mar;106(3):178-84. doi: 10.1002/bdra.23474. Epub 2015 Dec 21.

PMID:
26690971
9.

Synthesis and multiparametric evaluation of thiadiazoles and oxadiazoles as diacylglycerol acyltransferase type 1 inhibitors.

Mougenot P, Namane C, Fett E, Goumy F, Dadji-Faïhun R, Langot G, Monseau C, Onofri B, Pacquet F, Pascal C, Crespin O, Ben-Hassine M, Ragot JL, Van-Pham T, Philippo C, Chatelain-Egger F, Péron P, Le Bail JC, Guillot E, Chamiot-Clerc P, Chabanaud MA, Pruniaux MP, Ménegotto J, Schmidt F, Venier O, Viviani F, Nicolai E.

Bioorg Med Chem Lett. 2016 Jan 1;26(1):25-32. doi: 10.1016/j.bmcl.2015.11.046. Epub 2015 Nov 25.

PMID:
26627579
10.

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
11.

Prenatal diagnosis of the VACTERL association using routine ultrasound examination.

Debost-Legrand A, Goumy C, Laurichesse-Delmas H, Déchelotte P, Perthus I, Francannet C, Lémery D, Gallot D.

Birth Defects Res A Clin Mol Teratol. 2015 Oct;103(10):880-6. doi: 10.1002/bdra.23346. Epub 2015 Jun 2.

PMID:
26033534
12.

[Middle interhemispheric variant of holoprosencephaly and partial 21q monosomy].

Tran Mau-Them A, Goumy C, Delabaere A, Laurichesse-Delmas H, Lemery D, Gallot D.

Gynecol Obstet Fertil. 2015 Apr;43(4):326-7. doi: 10.1016/j.gyobfe.2015.02.009. Epub 2015 Mar 21. French. No abstract available.

PMID:
25800860
13.

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
14.

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
15.

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
16.

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
17.

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

Briand-Suleau A, Martinovic J, Tosca L, Tou B, Brisset S, Bouligand J, Delattre V, Giurgea I, Bachir J, Folliot P, Goumy C, Francannet C, Guiochon-Mantel A, Benachi A, Vermeesch J, Tachdjian G, Vago P, Goossens M, Métay C.

Eur J Med Genet. 2014 Mar;57(4):174-80. doi: 10.1016/j.ejmg.2013.12.013. Epub 2014 Jan 29.

18.

Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

Debost-Legrand A, Goumy C, Laurichesse-Delmas H, Déchelotte P, Beaufrère AM, Lémery D, Francannet C, Gallot D.

Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):806-11. doi: 10.1002/bdra.23194. Epub 2013 Nov 6.

PMID:
24343879
19.

Ketoacidosis at diagnosis of type 1 diabetes in French children and adolescents.

Choleau C, Maitre J, Filipovic Pierucci A, Elie C, Barat P, Bertrand AM, de Kerdanet M, Letallec C, Levy-Marchal C, Nicolino M, Tubiana-Rufi N, Cahané M, Robert JJ; AJD Study Group.

Diabetes Metab. 2014 Apr;40(2):137-42. doi: 10.1016/j.diabet.2013.11.001. Epub 2013 Dec 11.

PMID:
24332018
20.

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.

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