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Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.
Am J Med Genet A. 2008 May 15;146A(10):1325-9. doi: 10.1002/ajmg.a.32238.
Am J Med Genet A. 2008.
PMID: 18412111
Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
Karmous-Benailly H, Giuliano F, Massol C, Bloch C, De Ricaud D, Lambert JC, Perelman S.
Karmous-Benailly H, et al. Among authors: massol c.
Eur J Med Genet. 2006 Sep-Oct;49(5):431-8. doi: 10.1016/j.ejmg.2006.01.008. Epub 2006 Feb 10.
Eur J Med Genet. 2006.
PMID: 16497571
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Delineation of a region responsible for panhypopituitarism in 20p11.2.
Dayem-Quere M, Giuliano F, Wagner-Mahler K, Massol C, Crouzet-Ozenda L, Lambert JC, Karmous-Benailly H.
Dayem-Quere M, et al. Among authors: massol c.
Am J Med Genet A. 2013 Jul;161A(7):1547-54. doi: 10.1002/ajmg.a.35921. Epub 2013 May 8.
Am J Med Genet A. 2013.
PMID: 23657910
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De novo 4q duplication/deletion in a fetus with a congenital heart defect.
Dayem-Quere M, Giuliano F, Massol C, Piche M, Paquis-Flucklinger V, Karmous-Benailly H.
Dayem-Quere M, et al. Among authors: massol c.
Am J Med Genet A. 2015 Aug;167A(8):1932-6. doi: 10.1002/ajmg.a.37005. Epub 2015 Jun 19.
Am J Med Genet A. 2015.
PMID: 26097191
No abstract available.
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