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Twenty-five novel mutations including duplications in the ATP7A gene.
Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x.
Clin Genet. 2011.
PMID: 21208200
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.
Toutain A, Ronce N, Dessay B, Robb L, Francannet C, Le Merrer M, Briard ML, Kaplan J, Moraine C.
Toutain A, et al. Among authors: dessay b.
Hum Genet. 1997 Feb;99(2):256-61. doi: 10.1007/s004390050349.
Hum Genet. 1997.
PMID: 9048931
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X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.
Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C.
Raynaud M, et al. Among authors: dessay b.
Am J Med Genet. 1996 Jul 12;64(1):97-106. doi: 10.1002/(SICI)1096-8628(19960712)64:1<97::AID-AJMG17>3.0.CO;2-N.
Am J Med Genet. 1996.
PMID: 8826458
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Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.
Raynaud M, Moizard MP, Dessay B, Briault S, Toutain A, Gendrot C, Ronce N, Moraine C.
Raynaud M, et al. Among authors: dessay b.
Eur J Hum Genet. 2000 Apr;8(4):253-8. doi: 10.1038/sj.ejhg.5200437.
Eur J Hum Genet. 2000.
PMID: 10854107
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Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
Toutain A, Dessay B, Ronce N, Ferrante MI, Tranchemontagne J, Newbury-Ecob R, Wallgren-Pettersson C, Burn J, Kaplan J, Rossi A, Russo S, Walpole I, Hartsfield JK, Oyen N, Nemeth A, Bitoun P, Trump D, Moraine C, Franco B.
Toutain A, et al. Among authors: dessay b.
Eur J Hum Genet. 2002 Sep;10(9):516-20. doi: 10.1038/sj.ejhg.5200846.
Eur J Hum Genet. 2002.
PMID: 12173028
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Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.
Walpole SM, Ronce N, Grayson C, Dessay B, Yates JR, Trump D, Toutain A.
Walpole SM, et al. Among authors: dessay b.
Hum Genet. 1999 May;104(5):410-1. doi: 10.1007/s004390050976.
Hum Genet. 1999.
PMID: 10394933
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