Literature DB >> 8006437

The genetics of ichthyosis: a primer for epidemiologists.

S J Bale1, S Z Doyle.   

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Year:  1994        PMID： 8006437     DOI： 10.1111/1523-1747.ep12388591

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  9 in total

1.  Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.

Authors:  E Laiho; J Ignatius; H Mikkola; V C Yee; D C Teller; K M Niemi; U Saarialho-Kere; J Kere; A Palotie
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

Review 2.  Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Authors:  Matthew L Herman; Sharifeh Farasat; Peter J Steinbach; Ming-Hui Wei; Ousmane Toure; Philip Fleckman; Patrick Blake; Sherri J Bale; Jorge R Toro
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

3.  Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene.

Authors:  Crystal Hung; Reed I Ayabe; Cynthia Wang; Ricardo F Frausto; Anthony J Aldave
Journal:  Cornea       Date:  2013-09       Impact factor: 2.651

4.  In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa.

Authors:  P B Robbins; Q Lin; J B Goodnough; H Tian; X Chen; P A Khavari
Journal:  Proc Natl Acad Sci U S A       Date:  2001-04-10       Impact factor: 11.205

5.  Microbial keratitis in a case of lamellar ichthyosis.

Authors:  Sunita Chaurasia; Sujata Das; Balasubramanya Ramamurthy
Journal:  Int Ophthalmol       Date:  2007-09-09       Impact factor: 2.031

6.  Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Authors:  S Farasat; M-H Wei; M Herman; D J Liewehr; S M Steinberg; S J Bale; P Fleckman; J R Toro
Journal:  J Med Genet       Date:  2008-10-23       Impact factor: 6.318

7.  Multiple local and recent founder effects of TGM1 in Spanish families.

Authors:  Laura Fachal; Laura Rodríguez-Pazos; Manuel Ginarte; Jaime Toribio; Antonio Salas; Ana Vega
Journal:  PLoS One       Date:  2012-04-12       Impact factor: 3.240

8.  Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.

Authors:  Tao Wang; Chenchen Xu; Xiping Zhou; Chunjia Li; Hongbing Zhang; Bill Q Lian; Jonathan J Lee; Jun Shen; Yuehua Liu; Christine Guo Lian
Journal:  Int J Mol Sci       Date:  2015-09-09       Impact factor: 5.923

9.  In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report.

Authors:  Hui Shi; Xiao-Feng Qi; Tao-Tao Liu; Qian Hao; Xiao-Hong Li; Ling-Ling Liang; Yi-Miao Wang; Zhi-Hua Cui
Journal:  BMC Ophthalmol       Date:  2017-03-16       Impact factor: 2.209
  9 in total

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