Literature DB >> 28484936

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.

Patra Yeetong1, Kanya Suphapeetiporn2,3, Vorasuk Shotelersuk4,5.   

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Year:  2017        PMID： 28484936     DOI： 10.1007/s12519-017-0037-2

Source DB:  PubMed          Journal:  World J Pediatr            Impact factor:   2.764


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  10 in total

1.  Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Authors:  G Ménasché; E Pastural; J Feldmann; S Certain; F Ersoy; S Dupuis; N Wulffraat; D Bianchi; A Fischer; F Le Deist; G de Saint Basile
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

2.  Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.

Authors:  Setareh Mamishi; Mohammad Hossein Modarressi; Babak Pourakbari; Banafshe Tamizifar; Fatemeh Mahjoub; Alireza Fahimzad; Soheila Alyasin; Mohamad Hassan Bemanian; Amir Ali Hamidiyeh; Mohammad Reza Fazlollahi; Mahmoud Reza Ashrafi; Anna Isaeian; Ghamartaj Khotaei; Mehdi Yeganeh; Nima Parvaneh
Journal:  J Clin Immunol       Date:  2008-03-19       Impact factor: 8.317

3.  Pigment dilution and immunodeficiency: a new syndrome.

Authors:  C Griscelli; M Prunieras
Journal:  Int J Dermatol       Date:  1978-12       Impact factor: 2.736

4.  Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.

Authors:  Norihiko Ohbayashi; Setareh Mamishi; Koutaro Ishibashi; Yuto Maruta; Babak Pourakbari; Banafshe Tamizifar; Masoud Mohammadpour; Mitsunori Fukuda; Nima Parvaneh
Journal:  Pigment Cell Melanoma Res       Date:  2010-04-03       Impact factor: 4.693

5.  Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.

Authors:  Marie Meeths; Yenan T Bryceson; Eva Rudd; Chengyun Zheng; Stephanie M Wood; Kim Ramme; Karin Beutel; Henrik Hasle; Carsten Heilmann; Kjell Hultenby; Hans-Gustaf Ljunggren; Bengt Fadeel; Magnus Nordenskjöld; Jan-Inge Henter
Journal:  Pediatr Blood Cancer       Date:  2010-04       Impact factor: 3.167

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

Authors:  Ozden Sanal; Fúgen Ersoy; Ilhan Tezcan; Ayşe Metin; Leman Yel; Gaël Ménasché; Aytemiz Gürgey; Izzet Berkel; Geneviève de Saint Basile
Journal:  J Clin Immunol       Date:  2002-07       Impact factor: 8.317

7.  Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation.

Authors:  Alfredo Rossi; Riccardo G Borroni; Anna Maria Carrozzo; Catia de Felice; Adriana Menichelli; Marta Carlesimo; Stefano Calvieri
Journal:  Dermatology       Date:  2009-03-06       Impact factor: 5.366

8.  A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.

Authors:  Wendy Westbroek; Maya Tuchman; Bradford Tinloy; Olivier De Wever; Thierry Vilboux; Jens M Hertz; Henrik Hasle; Carsten Heilmann; Amanda Helip-Wooley; Robert Kleta; William A Gahl
Journal:  Mol Genet Metab       Date:  2008-04-07       Impact factor: 4.797

9.  An Indian boy with griscelli syndrome type 2: case report and review of literature.

Authors:  Ankur Singh; Amit Garg; Seema Kapoor; Nita Khurana; Miriam Entesarian; Bianca Tesi
Journal:  Indian J Dermatol       Date:  2014-07       Impact factor: 1.494

10.  Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.

Authors:  Valentina Cetica; Yvonne Hackmann; Samantha Grieve; Elena Sieni; Benedetta Ciambotti; Maria Luisa Coniglio; Daniela Pende; Kimberly Gilmour; Paolo Romagnoli; Gillian M Griffiths; Maurizio Aricò
Journal:  J Allergy Clin Immunol       Date:  2014-10-11       Impact factor: 10.793
  10 in total

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