Literature DB >> 23321617

Clinical utility gene card for: poikiloderma with neutropenia.

Lidia Larizza1, Gloria Negri, Elisa Adele Colombo, Ludovica Volpi, Yves Sznajer.   

Abstract

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Mesh：

Year:  2013        PMID： 23321617      PMCID： PMC3778337          DOI： 10.1038/ejhg.2012.298

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  17 in total

1.  Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.

Authors:  Lisa L Wang; Anu Gannavarapu; Carol L Clericuzio; Robert P Erickson; Alan D Irvine; Sharon E Plon
Journal:  Am J Med Genet A       Date:  2003-04-30       Impact factor: 2.802

2.  Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.

Authors:  Akio Tanaka; Fanny Morice-Picard; Didier Lacombe; Nikoletta Nagy; Michihiro Hide; Alain Taïeb; John McGrath
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

3.  Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia.

Authors:  W Rodgers; P Ancliff; C P Ponting; L Sanchez-Pulido; S Burns; M Hayman; V Kimonis; N Sebire; N Bulstrode; J I Harper
Journal:  Br J Dermatol       Date:  2012-11-02       Impact factor: 9.302

4.  Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.

Authors:  D Concolino; G Roversi; G L Muzzi; S Sestito; E A Colombo; L Volpi; L Larizza; P Strisciuglio
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

5.  Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.

Authors:  A W Arnold; P H Itin; M Pigors; J Kohlhase; L Bruckner-Tuderman; C Has
Journal:  Br J Dermatol       Date:  2010-09-07       Impact factor: 9.302

6.  Haematological disease in siblings with Rothmund-Thomson syndrome.

Authors:  W M Porter; C M Hardman; S H Abdalla; A V Powles
Journal:  Clin Exp Dermatol       Date:  1999-11       Impact factor: 3.470

7.  Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

Authors:  Ludovica Volpi; Gaia Roversi; Elisa Adele Colombo; Nico Leijsten; Daniela Concolino; Andrea Calabria; Maria Antonietta Mencarelli; Michele Fimiani; Fabio Macciardi; Rolph Pfundt; Eric F P M Schoenmakers; Lidia Larizza
Journal:  Am J Hum Genet       Date:  2009-12-10       Impact factor: 11.025

Review 8.  Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Ludovica Volpi
Journal:  Orphanet J Rare Dis       Date:  2010-01-29       Impact factor: 4.123

9.  Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Authors:  Amanda J Walne; Tom Vulliamy; Richard Beswick; Michael Kirwan; Inderjeet Dokal
Journal:  Hum Mol Genet       Date:  2010-09-03       Impact factor: 6.150

10.  Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.

Authors:  Rahima Mostefai; Fanny Morice-Picard; Franck Boralevi; Michel Sautarel; Didier Lacombe; Marie José Stasia; John McGrath; Alain Taïeb
Journal:  Am J Med Genet A       Date:  2008-11-01       Impact factor: 2.802
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  3 in total

1.  CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

Authors:  Sébastien Küry; Sandra Mercier; Gasnat Shaboodien; Thomas Besnard; Sébastien Barbarot; Nonhlanhla P Khumalo; Bongani M Mayosi; Stéphane Bézieau
Journal:  Eur J Hum Genet       Date:  2015-10-07       Impact factor: 4.246

2.  Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.

Authors:  Prakash Patil; Tamayo Uechi; Naoya Kenmochi
Journal:  RNA Biol       Date:  2015       Impact factor: 4.652

3.  A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.

Authors:  Elisa A Colombo; Silvia Carra; Laura Fontana; Erica Bresciani; Franco Cotelli; Lidia Larizza
Journal:  Sci Rep       Date:  2015-11-02       Impact factor: 4.379
  3 in total

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