Literature DB >> 5100776

Stiff skin syndrome.

N B Esterly, V A McKusick.   

Abstract

Entities:  

Mesh：

Year:  1971        PMID： 5100776

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


× No keyword cloud information.
  8 in total

1.  The ocular phenotype of stiff-skin syndrome.

Authors:  S Chamney; B Cartmill; O Earley; V McConnell; C E Willoughby
Journal:  Eye (Lond)       Date:  2015-10-16       Impact factor: 3.775

2.  Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

Authors:  B L Loeys; E E Gerber; D Riegert-Johnson; S Iqbal; P Whiteman; V McConnell; C R Chillakuri; D Macaya; P J Coucke; A De Paepe; D P Judge; F Wigley; E C Davis; H J Mardon; P Handford; D R Keene; L Y Sakai; H C Dietz
Journal:  Sci Transl Med       Date:  2010-03-17       Impact factor: 17.956

3.  Atypical presentation of scleroderma in infancy.

Authors:  Navin Mishra; Devendra Shrestha; Rakesh Babu Poudyal; K C Shiva Raj
Journal:  Rheumatol Int       Date:  2011-02-16       Impact factor: 2.631

4.  Restrictive dermopathy: a lethal congenital skin disorder.

Authors:  R Hoffmann; M Lohner; N Böhm; J Leititis; H Helwig
Journal:  Eur J Pediatr       Date:  1993-02       Impact factor: 3.183

5.  Stiff skin syndrome versus scleroderma: a report of two cases.

Authors:  V F Azevedo; S Z Serafini; B Werner; C S Müller; C F M Franchini; R L S L Morais
Journal:  Clin Rheumatol       Date:  2009-05-05       Impact factor: 2.980

6.  Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis.

Authors:  Jacopo Olivieri; Silvia Smaldone; Francesco Ramirez
Journal:  Fibrogenesis Tissue Repair       Date:  2010-12-02

Review 7.  The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

Authors:  Silke Peeters; Pauline De Kinderen; Josephina A N Meester; Aline Verstraeten; Bart L Loeys
Journal:  Hum Mutat       Date:  2022-04-28       Impact factor: 4.700

8.  Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation.

Authors:  Carmela Fusco; Grazia Nardella; Bartolomeo Augello; Francesca Boccafoschi; Orazio Palumbo; Luca Fusaro; Angelantonio Notarangelo; Raffaela Barbano; Paola Parrella; Giuseppina Annicchiarico; Carmela De Meco; Lucia Micale; Paolo Graziano; Marco Castori
Journal:  Int J Mol Sci       Date:  2020-07-20       Impact factor: 5.923
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.