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Items: 5

1.

Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease.

Badens C, Joly P, Agouti I, Thuret I, Gonnet K, Fattoum S, Francina A, Simeoni MC, Loundou A, Pissard S.

Haematologica. 2011 Nov;96(11):1712-4. doi: 10.3324/haematol.2011.046748. Epub 2011 Jul 26.

2.

Late diagnosis of an unstable hemoglobin in a diabetic patient: Hb Baille alpha2 122(H5)His>Tyr.

Bonello-Palot N, Gonnet K, Ducros C, Merono F, Paolasso C, Levy N, Vialettes B, Badens C.

Clin Chim Acta. 2009 Aug;406(1-2):174-5. doi: 10.1016/j.cca.2009.05.014. Epub 2009 May 19. No abstract available.

PMID:
19463801
3.

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.

Sousa SB, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, Kohlhase J, Amorim M, Gonnet K, Lévy N, Carreira IM, Couceiro AB, Saraiva JM.

Am J Med Genet A. 2008 Nov 1;146A(21):2799-803. doi: 10.1002/ajmg.a.32489. Review.

PMID:
18837045
4.

First case of gamma-thalassemia in association with a betaS allele: a pitfall in the neonatal screening for sickle cell disease.

Lacoste C, Bonello-Palot N, Gonnet K, Merono F, Levy N, Thuret I, Badens C.

Haematologica. 2008 Nov;93(11):1754-5. doi: 10.3324/haematol.13262. Epub 2008 Aug 25. No abstract available.

5.

Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes.

Krahn M, Julia S, Sigaudy S, Liprandi A, Bernard R, Gonnet K, Heuertz S, Bonaventure J, Chau C, Fredouille C, Levy N, Philip N.

Clin Genet. 2005 Dec;68(6):558-60. No abstract available.

PMID:
16283889

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