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Page 1
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
Growth charts in DYRK1A syndrome.
Lanvin PL, Goronflot T, Isidor B, Nizon M, Durand B, El Chehadeh S, Geneviève D, Ruault V, Fradin M, Pasquier L, Thévenon J, Delobel B, Burglen L, Afenjar A, Faivre L, Francannet C, Guerrot AM, Goldenberg A, Mercier S, Héron D, Lehalle D, Mignot C, Marey I, Charles P, Moutton S, Bézieau S, Bayat A, Piton A, Willems M, Vincent M. Lanvin PL, et al. Among authors: delobel b. Am J Med Genet A. 2024 Jan;194(1):9-16. doi: 10.1002/ajmg.a.63412. Epub 2023 Sep 22. Am J Med Genet A. 2024. PMID: 37740550
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.
Molecular mapping of a Yq deletion in a patient with normal stature.
Rousseaux-Prévost R, Rigot JM, Delobel B, Lesur P, Collier F, Croquette MF, Gauthier A, Mazeman E, Rousseaux J. Rousseaux-Prévost R, et al. Among authors: delobel b. Hum Genet. 1996 Oct;98(4):505-7. doi: 10.1007/s004390050248. Hum Genet. 1996. PMID: 8792831
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
[Smith-Magenis syndrome].
Livet MO, Moncla A, Delobel B, Croquette MF, Philip N, Vallée L. Livet MO, et al. Among authors: delobel b. Arch Pediatr. 1997 Dec;4(12):1231-7. doi: 10.1016/s0929-693x(97)82615-2. Arch Pediatr. 1997. PMID: 9538429 French.
110 results