de Ricaud D - Search Results

1

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, McDonald D, Geha RS, Takada H, Krause JC, Creech CB, Ku CL, Ehl S, Maródi L, Al-Muhsen S, Al-Hajjar S, Al-Ghonaium A, Day-Good NK, Holland SM, Gallin JI, Chapel H, Speert DP, Rodriguez-Gallego C, Colino E, Garty BZ, Roifman C, Hara T, Yoshikawa H, Nonoyama S, Domachowske J, Issekutz AC, Tang M, Smart J, Zitnik SE, Hoarau C, Kumararatne DS, Thrasher AJ, Davies EG, Bethune C, Sirvent N, de Ricaud D, Camcioglu Y, Vasconcelos J, Guedes M, Vitor AB, Rodrigo C, Almazán F, Méndez M, Aróstegui JI, Alsina L, Fortuny C, Reichenbach J, Verbsky JW, Bossuyt X, Doffinger R, Abel L, Puel A, Casanova JL. Picard C, et al. Among authors: de ricaud d. Medicine (Baltimore). 2010 Nov;89(6):403-425. doi: 10.1097/MD.0b013e3181fd8ec3. Medicine (Baltimore). 2010. PMID: 21057262 Free PMC article.

2

Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.

Thümmler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D. Thümmler S, et al. Among authors: de ricaud d. Tohoku J Exp Med. 2010 Jan;220(1):27-31. doi: 10.1620/tjem.220.27. Tohoku J Exp Med. 2010. PMID: 20046049 Free article.

3

First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra.

Rossi-Semerano L, Piram M, Chiaverini C, De Ricaud D, Smahi A, Koné-Paut I. Rossi-Semerano L, et al. Among authors: de ricaud d. Pediatrics. 2013 Oct;132(4):e1043-7. doi: 10.1542/peds.2012-3935. Epub 2013 Sep 9. Pediatrics. 2013. PMID: 24019411

4

[Congenital syphilis: a case report].

Lasfargue M, Thümmler S, Perelman S, de Ricaud D. Lasfargue M, et al. Among authors: de ricaud d. Arch Pediatr. 2009 Oct;16 Suppl 2:S123-6. doi: 10.1016/S0929-693X(09)75314-X. Arch Pediatr. 2009. PMID: 19836674 French.

5

[Generalized Lyell syndrome due to carbamazepine].

Belgodere X, Dericaud D, Pincemaille O, Dupont D, Velin P, Bovis JM, Quinot JF. Belgodere X, et al. Arch Pediatr. 1997 Oct;4(10):1020-1. doi: 10.1016/s0929-693x(97)86104-0. Arch Pediatr. 1997. PMID: 9436506 French. No abstract available.

6

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: de ricaud d. 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

7

[Kawasaki disease in a young infant: difficulties for diagnosis and early complications].

Saint-Faust M, Benoit P, Bourlon F, Bloch C, De Ricaud D. Saint-Faust M, et al. Among authors: de ricaud d. Arch Pediatr. 2007 Dec;14(12):1427-30. doi: 10.1016/j.arcped.2007.08.018. Epub 2007 Nov 8. Arch Pediatr. 2007. PMID: 17996431 French.

8

Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.

Bekri S, Armana G, De Ricaud D, Osenda M, Maire I, Van Obberghen E, Froissart R. Bekri S, et al. Among authors: de ricaud d. J Inherit Metab Dis. 2005;28(4):601-2. doi: 10.1007/s10545-005-0601-0. J Inherit Metab Dis. 2005. PMID: 15902564

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