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Items: 1 to 20 of 127

1.

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.

Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, de Saint Basile G.

Nat Genet. 1997 Jul;16(3):289-92. Erratum in: Nat Genet 1999 Nov;23(3):373.

PMID:
9207796
2.

Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

Pastural E, Ersoy F, Yalman N, Wulffraat N, Grillo E, Ozkinay F, Tezcan I, Gediköglu G, Philippe N, Fischer A, de Saint Basile G.

Genomics. 2000 Feb 1;63(3):299-306.

PMID:
10704277
3.

Partial albinism with immunodeficiency (Griscelli syndrome).

Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C.

J Pediatr. 1994 Dec;125(6 Pt 1):886-95.

PMID:
7996360
4.

Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.

Mancini AJ, Chan LS, Paller AS.

J Am Acad Dermatol. 1998 Feb;38(2 Pt 2):295-300. Review.

PMID:
9486701
5.

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.

Nat Genet. 2000 Jun;25(2):173-6.

PMID:
10835631
6.

Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl.

Baumeister FA, Stachel D, Schuster F, Schmid I, Schaller M, Wolff H, Weiss M, Belohradsky BH.

Eur J Pediatr. 2000 Jan-Feb;159(1-2):74-8.

PMID:
10653334
7.

arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.

Lambert J, Naeyaert JM, De Paepe A, Van Coster R, Ferster A, Song M, Messiaen L.

J Invest Dermatol. 2000 Apr;114(4):731-3.

8.
9.

Griscelli syndrome: a new phenotype with circumscribed pigment loss?

Kharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U.

Dermatol Online J. 2007 May 1;13(2):17.

10.

The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.

Gorman SW, Haider NB, Grieshammer U, Swiderski RE, Kim E, Welch JW, Searby C, Leng S, Carmi R, Sheffield VC, Duhl DM.

Genomics. 1999 Jul 15;59(2):150-60.

PMID:
10409426
11.

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB.

Science. 1998 May 29;280(5368):1447-51.

12.

Subcellular localization of GFP-myosin-V in live mouse melanocytes.

Tsakraklides V, Krogh K, Wang L, Bizario JC, Larson RE, Espreafico EM, Wolenski JS.

J Cell Sci. 1999 Sep;112 ( Pt 17):2853-65.

13.

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.

J Clin Immunol. 2002 Jul;22(4):237-43.

PMID:
12148598
14.
15.

Light and scanning electron microscopic examination of hair in Griscelli syndrome.

Celik HH, Tore H, Tunali S, Tatar I, Aldur MM.

Saudi Med J. 2007 Aug;28(8):1275-7.

PMID:
17676217
16.

A novel type of myosin encoded by the mouse deafness gene shaker-2.

Wakabayashi Y, Takahashi Y, Kikkawa Y, Okano H, Mishima Y, Ushiki T, Yonekawa H, Kominami R.

Biochem Biophys Res Commun. 1998 Jul 30;248(3):655-9.

PMID:
9703981
17.

Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis.

Kumar M, Sackey K, Schmalstieg F, Trizna Z, Elghetany MT, Alter BP.

J Pediatr Hematol Oncol. 2001 Oct;23(7):464-8. Review.

PMID:
11878584
18.
19.

[Griscelli syndrome in a Mexican girl].

Ayala de la Cruz Mdel C, Ramírez Campos J, Govea Sifuentes J, González Cabello D, Calderón Garcidueñas AL, Moreno L, Vargas Almanza GN.

Rev Alerg Mex. 2002 Jan-Feb;49(1):16-9. Spanish.

PMID:
12070892
20.

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