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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Bénech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, Doco-Fenzy M. Jacquin C, et al. Among authors: delobel b. Am J Med Genet A. 2023 Feb;191(2):445-458. doi: 10.1002/ajmg.a.63041. Epub 2022 Nov 11. Am J Med Genet A. 2023. PMID: 36369750 Free PMC article.
[Unusual mechanism in Prader-Willi syndrome: incidence in genetic counseling].
Klosowski S, Delobel B, Morisot C, Kongolo G, Biancalana V, Thelliez P, Djebara A, Croquette MF, Deroubaix P. Klosowski S, et al. Among authors: delobel b. Arch Pediatr. 1998 Aug;5(8):934-5. doi: 10.1016/s0929-693x(98)80208-x. Arch Pediatr. 1998. PMID: 9759307 French. No abstract available.
An excess of chromosome 1 breakpoints in male infertility.
Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. Bache I, et al. Among authors: delobel b. Eur J Hum Genet. 2004 Dec;12(12):993-1000. doi: 10.1038/sj.ejhg.5201263. Eur J Hum Genet. 2004. PMID: 15367911
Synaptic behaviour of sex chromosome in two XYY men.
Gabriel-Robez O, Delobel B, Croquette MF, Rigot JM, Djlelati R, Rumpler Y. Gabriel-Robez O, et al. Among authors: delobel b. Ann Genet. 1996;39(3):129-32. Ann Genet. 1996. PMID: 8839884
Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females.
Franke P, Leboyer M, Hardt J, Sohne E, Weiffenbach O, Biancalana V V, Cornillet-Lefebre P, Delobel B, Froster U, Schwab SG, Poustka F, Hautzinger M, Maier W. Franke P, et al. Among authors: delobel b. Psychiatry Res. 1999 Oct 11;87(2-3):223-31. doi: 10.1016/s0165-1781(99)00067-0. Psychiatry Res. 1999. PMID: 10579555
Distribution of gelsolin in human testis.
Rousseaux-Prevost R, Delobel B, Hermand E, Rigot JM, Danjou P, Mazeman E, Rousseaux J. Rousseaux-Prevost R, et al. Among authors: delobel b. Mol Reprod Dev. 1997 Sep;48(1):63-70. doi: 10.1002/(SICI)1098-2795(199709)48:1<63::AID-MRD8>3.0.CO;2-N. Mol Reprod Dev. 1997. PMID: 9266762
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
Feldmann D, Denoyelle F, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Le Maréchal C, Dollfus H, Eliot MM, Delaunoy JP, David A, Calais C, Drouin-Garraud V, Obstoy MF, Bouccara D, Sterkers O, Huy PT, Goizet C, Duriez F, Fellmann F, Hélias J, Vigneron J, Montaut B, Lewin P, Petit C, Marlin S. Feldmann D, et al. Among authors: delobel b. Am J Med Genet A. 2004 Jun 15;127A(3):263-7. doi: 10.1002/ajmg.a.20588. Am J Med Genet A. 2004. PMID: 15150777
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