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Chromosome aneuploidy in the spermatozoa of two men with globozoospermia.
Published in:
Molecular Human Reproduction, 2004, v. 10, n. 11, p. 835, doi. 10.1093/molehr/gah111
By:
- Morel, F.;
- Douet-Guilbert, N.;
- Moerman, A.;
- Duban, B.;
- Marchetti, C.;
- Delobel, B.;
- Le Bris, M.-J.;
- Amice, V.;
- De Braekeleer, M.
Publication type:
Article
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.
Published in:
Clinical Genetics, 2012, v. 81, n. 3, p. 265, doi. 10.1111/j.1399-0004.2010.01621.x
By:
- Petit, F;
- Holder-Espinasse, M;
- Duban-Bedu, B;
- Bouquillon, S;
- Boute-Benejean, O;
- Bazin, A;
- Rouland, V;
- Manouvrier-Hanu, S;
- Delobel, B
Publication type:
Article
Delineation of 15q13.3 microdeletions.
Published in:
Clinical Genetics, 2010, v. 78, n. 2, p. 149, doi. 10.1111/j.1399-0004.2010.01374.x
By:
- Masurel-Paulet, A.;
- Andrieux, J.;
- Callier, P.;
- Cuisset, J. M.;
- Le Caignec, C.;
- Holder, M.;
- Thauvin-Robinet, C.;
- Doray, B.;
- Flori, E.;
- Alex-Cordier, M. P.;
- Beri, M.;
- Boute, O.;
- Delobel, B.;
- Dieux, A.;
- Vallee, L.;
- Jaillard, S.;
- Odent, S.;
- Isidor, B.;
- Beneteau, C.;
- Vigneron, J.
Publication type:
Article
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Published in:
Clinical Genetics, 2009, v. 76, n. 4, p. 357, doi. 10.1111/j.1399-0004.2009.01194.x
By:
- Nemos, C.;
- Lambert, L.;
- Giuliano, F.;
- Doray, B.;
- Roubertie, A.;
- Goldenberg, A.;
- Delobel, B.;
- Layet, V.;
- N’guyen, M. A.;
- Saunier, A.;
- Verneau, F.;
- Jonveaux, P.;
- Philippe, C.
Publication type:
Article
Screening ofSLC26A4(PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 333, doi. 10.1111/j.1399-0004.2004.00296.x
By:
- Blons, H.;
- Feldmann, D.;
- Duval, V.;
- Messaz, O.;
- Denoyell, F.;
- Loundon, N.;
- Sergout-Allaoui, A.;
- Houang, M.;
- Duriez, F.;
- Lacombe, D.;
- Delobel, B.;
- Leman, J.;
- Catros, H.;
- Journel, H.;
- Drouin-Garraud, V.;
- Obstoy, M.-F.;
- Toutain, A.;
- Oden, S.;
- Toublanc, J. E.;
- Couderc, R.
Publication type:
Article
Deletion of chromosome 4p detected by FISH in a girl with normal high resolution karyotype.
Published in:
1999
By:
- Manouvrier, S.;
- Boute, O.;
- Viot, G.;
- Delobel, B.
Publication type:
Case Study
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Published in:
Nature, 2010, v. 463, n. 7281, p. 671, doi. 10.1038/nature08727
By:
- Walters, R. G.;
- Jacquemont, S.;
- Valsesia, A.;
- de Smith, A. J.;
- Martinet, D.;
- Andersson, J.;
- Falchi, M.;
- Chen, F.;
- Andrieux, J.;
- Lobbens, S.;
- Delobel, B.;
- Stutzmann, F.;
- Moustafa, J. S. El-Sayed;
- Chèvre, J.-C.;
- Lecoeur, C.;
- Vatin, V.;
- Bouquillon, S.;
- Buxton, J. L.;
- Boute, O.;
- Holder-Espinasse, M.
Publication type:
Article
Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Published in:
2018
By:
- Baer, S.;
- Afenjar, A.;
- Smol, T.;
- Piton, A.;
- Gérard, B.;
- Alembik, Y.;
- Bienvenu, T.;
- Boursier, G.;
- Boute, O.;
- Colson, C.;
- Cordier, M.‐p.;
- Cormier‐daire, V.;
- Delobel, B.;
- Doco‐fenzy, M.;
- Duban‐bedu, B.;
- Fradin, M.;
- Geneviève, D.;
- Goldenberg, A.;
- Grelet, M.;
- Haye, D.
Publication type:
Case Study
Rearing the cassava mealybug, Phenacoccus manihoti, on a defined diet.
Published in:
Entomologia Experimentalis et Applicata, 1998, v. 86, n. 3, p. 325, doi. 10.1046/j.1570-7458.1998.00296.x
By:
- Calatayud, P.-A.;
- Delobel, B.;
- Guillaud, J.;
- Rahbé, Y.
Publication type:
Article
Lack of intraindividual variation of unbalanced spermatozoa frequencies from a 46,XY,t(9;22)(q21;q11.2) carrier: Case report.
Published in:
Human Reproduction, 2004, v. 19, n. 10, p. 2227, doi. 10.1093/humrep/deh439
By:
- F. Morel;
- N. Douet-Guilbert;
- M.-J. Le Bris;
- A. Herry;
- C. Marchetti;
- V. Lefebvre;
- B. Delobel;
- V. Amice;
- J. Amice;
- M. De Braekeleer
Publication type:
Article
Effects of repeated thermic and antibiotic treatments on a Trichogramma (Hym., Trichogrammatidae) symbiont.
Published in:
Journal of Applied Entomology, 1999, v. 123, n. 8, p. 473, doi. 10.1046/j.1439-0418.1999.00412.x
By:
- Pintureau, B.;
- Chapelle, L.;
- Delobel, B.
Publication type:
Article
A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.
Published in:
Human Mutation, 1996, v. 7, n. 3, p. 266, doi. 10.1002/(SICI)1098-1004(1996)7:3<266::AID-HUMU12>3.0.CO;2-0
By:
- Birot, A.M.;
- Delobel, B.;
- Gronnier, P.;
- Bonnet, V.;
- Maire, I.;
- Bozon, D.
Publication type:
Article

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