de Saint Basile G - Search Results

1

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.

Grandin V, Sepulveda FE, Lambert N, Al Zahrani M, Al Idrissi E, Al-Mousa H, Almanjomi F, Al-Ghonaium A, K Habazi M, A Alghamdi H, Picard C, Bole-Feysot C, Nitschke P, Ménasché G, de Saint Basile G. Grandin V, et al. Among authors: de saint basile g. Hum Mutat. 2017 Oct;38(10):1355-1359. doi: 10.1002/humu.23274. Epub 2017 Jun 19. Hum Mutat. 2017. PMID: 28585352

2

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.

Aral B, de Saint Basile G, Al-Garawi S, Kamoun P, Ceballos-Picot I. Aral B, et al. Among authors: de saint basile g. Hum Mutat. 1996;7(1):52-8. doi: 10.1002/(SICI)1098-1004(1996)7:1<52::AID-HUMU7>3.0.CO;2-R. Hum Mutat. 1996. PMID: 8664901

3

Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.

de Saint Basile G, Lagelouse RD, Lambert N, Schwarz K, Le Mareck B, Odent S, Schlegel N, Fischer A. de Saint Basile G, et al. J Pediatr. 1996 Jul;129(1):56-62. doi: 10.1016/s0022-3476(96)70190-7. J Pediatr. 1996. PMID: 8757563

4

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.

Dufourcq-Lagelouse R, Lambert N, Duval M, Viot G, Vilmer E, Fischer A, Prieur M, de Saint Basile G. Dufourcq-Lagelouse R, et al. Among authors: de saint basile g. Eur J Hum Genet. 1999 Sep;7(6):633-7. doi: 10.1038/sj.ejhg.5200355. Eur J Hum Genet. 1999. PMID: 10482950

5

Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.

Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B. Wiszniewski W, et al. Among authors: de saint basile g. Immunogenetics. 2000 Apr;51(4-5):261-7. doi: 10.1007/s002510050619. Immunogenetics. 2000. PMID: 10803838

6

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Ménasché G, et al. Among authors: de saint basile g. Nat Genet. 2000 Jun;25(2):173-6. doi: 10.1038/76024. Nat Genet. 2000. PMID: 10835631

7

Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity.

Sanal O, Ersoy F, Tezcan I, Metin A, Yel L, Ménasché G, Gürgey A, Berkel I, de Saint Basile G. Sanal O, et al. Among authors: de saint basile g. J Clin Immunol. 2002 Jul;22(4):237-43. doi: 10.1023/a:1016045026204. J Clin Immunol. 2002. PMID: 12148598

8

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

Menasche G, Feldmann J, Houdusse A, Desaymard C, Fischer A, Goud B, de Saint Basile G. Menasche G, et al. Among authors: de saint basile g. Blood. 2003 Apr 1;101(7):2736-42. doi: 10.1182/blood-2002-09-2789. Epub 2002 Nov 21. Blood. 2003. PMID: 12446441 Free article.

9

Griscelli syndrome types 1 and 2.

Ménasché G, Fischer A, de Saint Basile G. Ménasché G, et al. Among authors: de saint basile g. Am J Hum Genet. 2002 Nov;71(5):1237-8; author reply 1238. doi: 10.1086/344140. Am J Hum Genet. 2002. PMID: 12452176 Free PMC article. No abstract available.

10

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).

Ménasché G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G. Ménasché G, et al. Among authors: de saint basile g. J Clin Invest. 2003 Aug;112(3):450-6. doi: 10.1172/JCI18264. J Clin Invest. 2003. PMID: 12897212 Free PMC article.

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