Lambert JC - Search Results

1

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: lambert jc. 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

2

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: lambert jc. 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

3

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.

Monnot S, Giuliano F, Massol C, Fossoud C, Cossée M, Lambert JC, Karmous-Benailly H. Monnot S, et al. Among authors: lambert jc. 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

4

Evolution of a patient with Bohring-Opitz syndrome.

Pierron S, Richelme C, Triolo V, Mas JC, Griffet J, Karmous-Benailly H, Quere M, Kaname T, Lambert JC, Giuliano F. Pierron S, et al. Among authors: lambert jc. Am J Med Genet A. 2009 Aug;149A(8):1754-7. doi: 10.1002/ajmg.a.32910. Am J Med Genet A. 2009. PMID: 19606480

5

Renal cell carcinoma and a constitutional t(11;22)(q23;q11.2): case report and review of the potential link between the constitutional t(11;22) and cancer.

Doyen J, Carpentier X, Haudebourg J, Hoch B, Karmous-Benailly H, Ambrosetti D, Fabas T, Amiel J, Lambert JC, Pedeutour F. Doyen J, et al. Among authors: lambert jc. Cancer Genet. 2012 Nov;205(11):603-7. doi: 10.1016/j.cancergen.2012.09.006. Epub 2012 Oct 30. Cancer Genet. 2012. PMID: 23117075

6

[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].

Giuliano F, Badens C, Richelme C, Levy N, Lambert JC. Giuliano F, et al. Among authors: lambert jc. Arch Pediatr. 2005 Sep;12(9):1372-5. doi: 10.1016/j.arcped.2005.03.053. Arch Pediatr. 2005. PMID: 16125058 French.

7

The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11.

Hiéronimus S, Bec-Roche M, Pedeutour F, Lambert JC, Wagner-Malher K, Mas JC, Sadoul JL, Fénichel P. Hiéronimus S, et al. Among authors: lambert jc. Eur J Endocrinol. 2006 Jul;155(1):47-52. doi: 10.1530/eje.1.02180. Eur J Endocrinol. 2006. PMID: 16793949

8

X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.

Houdayer CI, Toutain A, Ronce N, Lefort G, Sarda P, Taib J, Briault S, Lambert JC, Moraine CI. Houdayer CI, et al. Among authors: lambert jc. Ann Genet. 1993;36(4):194-9. Ann Genet. 1993. PMID: 8166423

9

[Fragile X syndrome is still unrecognized: efficacy of molecular diagnosis in mentally retarded probands].

Cossée M, Moutou C, Biancalana V, Bouix JC, Plessis G, Delobel B, Croquette MF, Gilgenkrantz S, Lambert JC, Malpuech G, Stoll C, Lanoe JL, Pechevis M, Mandel JL. Cossée M, et al. Among authors: lambert jc. Arch Pediatr. 1997 Mar;4(3):227-36. doi: 10.1016/s0929-693x(97)87235-1. Arch Pediatr. 1997. PMID: 9181015 French.

10

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.

Fragaki K, Procaccio V, Bannwarth S, Serre V, O'Hearn S, Potluri P, Augé G, Casagrande F, Caruba C, Lambert JC, Paquis-Flucklinger V. Fragaki K, et al. Among authors: lambert jc. Mitochondrion. 2009 Sep;9(5):346-52. doi: 10.1016/j.mito.2009.06.002. Epub 2009 Jun 27. Mitochondrion. 2009. PMID: 19563916

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