Literature DB >> 14985385

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.

J Klar, T Gedde-Dahl, M Larsson, M Pigg, B Carlsson, D Tentler, A Vahlquist, N Dahl.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 14985385      PMCID： PMC1735696          DOI： 10.1136/jmg.2003.012567

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  8 in total

1.  A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.

Authors:  M Melin; J Klar; T Jr Gedde-Dahl; R Fredriksson; I Hausser; F Brandrup; A Bygum; A Vahlquist; M Hellström Pigg; N Dahl
Journal:  J Hum Genet       Date:  2006-09-01       Impact factor: 3.172

2.  Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.

Authors:  M Melin; M Entesarian; G Carlsson; D Garwicz; C Klein; B Fadeel; M Nordenskjöld; J Palmblad; J I Henter; N Dahl
Journal:  Biochem Biophys Res Commun       Date:  2006-12-20       Impact factor: 3.575

3.  Multiple epiphyseal dysplasia.

Authors:  Johanna Dahlqvist; Hanna Orlén; Hans Matsson; Niklas Dahl; Torsten Lönnerholm; Karl-Henrik Gustavson
Journal:  Acta Orthop       Date:  2009-12       Impact factor: 3.717

4.  Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

Authors:  Joakim Klar; Martina Schweiger; Robert Zimmerman; Rudolf Zechner; Hao Li; Hans Törmä; Anders Vahlquist; Bakar Bouadjar; Niklas Dahl; Judith Fischer
Journal:  Am J Hum Genet       Date:  2009-07-23       Impact factor: 11.025

5.  Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia.

Authors:  Kristjan Dereksson; Sveinn Kjartansson; Hulda Hjartardóttir; Reynir Arngrimsson
Journal:  BMJ Case Rep       Date:  2012-08-27

6.  Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Authors:  J Dahlqvist; J Klar; I Hausser; I Anton-Lamprecht; M Hellström Pigg; T Gedde-Dahl; A Gånemo; A Vahlquist; N Dahl
Journal:  J Med Genet       Date:  2007-06-08       Impact factor: 6.318

7.  FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.

Authors:  Maria Sobol; Niklas Dahl; Joakim Klar
Journal:  BMC Res Notes       Date:  2011-03-30

8.  Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome.

Authors:  Ikuya Tsuge; Masashi Morishita; Takema Kato; Makiko Tsutsumi; Hidehito Inagaki; Yuji Mori; Kazuo Yamawaki; Chisato Inuo; Kuniko Ieda; Tamae Ohye; Akinori Hayakawa; Hiroki Kurahashi
Journal:  Hum Genome Var       Date:  2015-02-12
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.