Literature DB >> 12673665

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

Lisa L Wang, Anu Gannavarapu, Carol L Clericuzio, Robert P Erickson, Alan D Irvine, Sharon E Plon.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12673665     DOI： 10.1002/ajmg.a.10057

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  10 in total

1.  Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

Authors:  Carol Clericuzio; Karine Harutyunyan; Weidong Jin; Robert P Erickson; Alan D Irvine; W H Irwin McLean; Yaran Wen; Rochelle Bagatell; Thomas A Griffin; Tor A Shwayder; Sharon E Plon; Lisa L Wang
Journal:  Am J Med Genet A       Date:  2010-12-22       Impact factor: 2.802

Review 2.  Osteosarcoma: Molecular Pathogenesis and iPSC Modeling.

Authors:  Yu-Hsuan Lin; Brittany E Jewell; Julian Gingold; Linchao Lu; Ruiying Zhao; Lisa L Wang; Dung-Fang Lee
Journal:  Trends Mol Med       Date:  2017-07-20       Impact factor: 11.951

3.  Clinical utility gene card for: poikiloderma with neutropenia.

Authors:  Lidia Larizza; Gloria Negri; Elisa Adele Colombo; Ludovica Volpi; Yves Sznajer
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

4.  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 5.  Rothmund-Thomson syndrome.

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

6.  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

Review 7.  Weaving the Strands of Life (Iiná Bitł'ool): History of Genetic Research Involving Navajo People.

Authors:  Rene L Begay; Nanibaa' A Garrison; Franklin Sage; Mark Bauer; Ursula Knoki-Wilson; David H Begay; Beverly Becenti-Pigman; Katrina G Claw
Journal:  Hum Biol       Date:  2020-07-09       Impact factor: 0.553

8.  Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.

Authors:  Elisa A Colombo; J Fernando Bazan; Gloria Negri; Cristina Gervasini; Nursel H Elcioglu; Deniz Yucelten; Ilknur Altunay; Umram Cetincelik; Anna Teti; Andrea Del Fattore; Matteo Luciani; Spencer K Sullivan; Albert C Yan; Ludovica Volpi; Lidia Larizza
Journal:  Orphanet J Rare Dis       Date:  2012-01-23       Impact factor: 4.123

Review 9.  Autosomal recessive diseases among the Athabaskans of the southwestern United States: anthropological, medical, and scientific aspects.

Authors:  Robert P Erickson
Journal:  J Appl Genet       Date:  2021-04-21       Impact factor: 3.240

10.  Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs.

Authors:  Vincenzo Piccolo; Teresa Russo; Daniela Di Pinto; Elvira Pota; Martina Di Martino; Giulio Piluso; Andrea Ronchi; Giuseppe Argenziano; Eugenia Veronica Di Brizzi; Claudia Santoro
Journal:  Front Med (Lausanne)       Date:  2021-06-10
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.