Caillaud C - Search Results

1

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.

Mégarbané A, Maroteaux P, Caillaud C, Le Merrer M. Mégarbané A, et al. Among authors: caillaud c. Am J Med Genet A. 2004 Feb 15;125A(1):61-6. doi: 10.1002/ajmg.a.20442. Am J Med Genet A. 2004. PMID: 14755468 Review.

2

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

Mégarbané A, Choueiri R, Bleik J, Mezzina M, Caillaud C. Mégarbané A, et al. Among authors: caillaud c. J Med Genet. 1999 Aug;36(8):637-40. J Med Genet. 1999. PMID: 10465117 Free PMC article.

3

Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome?

Mégarbané A, Ghanem I, Romana S, Gosset P, Caillaud C. Mégarbané A, et al. Among authors: caillaud c. Genet Couns. 2002;13(2):123-31. Genet Couns. 2002. PMID: 12150211

4

Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?

Atrouni S, Darazé A, Tamraz J, Cassia A, Caillaud C, Mégarbané A. Atrouni S, et al. Among authors: caillaud c. Am J Med Genet A. 2003 Apr 1;118A(1):76-81. doi: 10.1002/ajmg.a.10019. Am J Med Genet A. 2003. PMID: 12605447

5

Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?

Mégarbané A, Samaras L, Chédid R, Chouery E, Chrétien D, Caillaud C, Abou-Ghoch J, Jalkh N. Mégarbané A, et al. Among authors: caillaud c. Am J Med Genet A. 2008 Dec 15;146A(24):3198-201. doi: 10.1002/ajmg.a.32579. Am J Med Genet A. 2008. PMID: 19012336

6

Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders.

Mégarbané A, Khalil G, Waked N, Rötig A, Caillaud C, Loiselet J. Mégarbané A, et al. Among authors: caillaud c. Am J Med Genet. 1999 Dec 3;87(4):289-93. doi: 10.1002/(sici)1096-8628(19991203)87:4<289::aid-ajmg1>3.0.co;2-t. Am J Med Genet. 1999. PMID: 10588831

7

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

Capo-Chichi JM, Mehawej C, Delague V, Caillaud C, Khneisser I, Hamdan FF, Michaud JL, Kibar Z, Mégarbané A. Capo-Chichi JM, et al. Among authors: caillaud c. Eur J Med Genet. 2015 Dec;58(12):637-41. doi: 10.1016/j.ejmg.2015.11.005. Epub 2015 Nov 11. Eur J Med Genet. 2015. PMID: 26578240 Review.

8

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.

Sabourdy F, Mourey L, Le Trionnaire E, Bednarek N, Caillaud C, Chaix Y, Delrue MA, Dusser A, Froissart R, Garnotel R, Guffon N, Megarbane A, Ogier de Baulny H, Pédespan JM, Pichard S, Valayannopoulos V, Verloes A, Levade T. Sabourdy F, et al. Among authors: caillaud c. Orphanet J Rare Dis. 2015 Mar 15;10:31. doi: 10.1186/s13023-015-0244-7. Orphanet J Rare Dis. 2015. PMID: 25885655 Free PMC article.

9

Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase.

Valayannopoulos V, Boddaert N, Barbier V, Le Merrer M, Caillaud C, de Lonlay P. Valayannopoulos V, et al. Among authors: caillaud c. Mol Genet Metab. 2010 May;100(1):20-3. doi: 10.1016/j.ymgme.2009.12.019. Epub 2010 Jan 4. Mol Genet Metab. 2010. PMID: 20106688

10

A new lysosomal storage disorder resembling Morquio syndrome in sibs.

Perrin L, Fenneteau O, Ilharreborde B, Capri Y, Gérard M, Quoc EB, Passemard S, Ghoumid J, Caillaud C, Froissart R, Tabet AC, Lebon S, El Ghouzzi V, Mazda K, Verloes A. Perrin L, et al. Among authors: caillaud c. Eur J Med Genet. 2012 Mar;55(3):157-62. doi: 10.1016/j.ejmg.2012.01.001. Epub 2012 Jan 25. Eur J Med Genet. 2012. PMID: 22330346

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