Literature DB >> 21285876

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

Nicola Brunetti-Pierri1, Pasquale Piccolo, Eva Morava, Ron A Wevers, Megan McGuirk, Yvette R Johnson, Zsolt Urban, Megan K Dishop, Lorraine Potocki.   

Abstract

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Year:  2011        PMID： 21285876      PMCID： PMC4374742          DOI： 10.1097/MCD.0b013e3283439676

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  25 in total

Review 1.  Primary pulmonary hypertension.

Authors:  L J Rubin
Journal:  N Engl J Med       Date:  1997-01-09       Impact factor: 91.245

2.  Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.

Authors:  Z Szabo; M W Crepeau; A L Mitchell; M J Stephan; R A Puntel; K Yin Loke; R C Kirk; Z Urban
Journal:  J Med Genet       Date:  2005-08-05       Impact factor: 6.318

3.  Vascular abnormalities in congenital cutis laxa--report of two cases.

Authors:  A Tsuji; J Yanai; T Miura; Y Shirai; M Osano; Y Hosoda; M Sato; T Asaishi; Y Oda; H Hajikano
Journal:  Acta Paediatr Jpn       Date:  1990-04

4.  Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

Authors:  Zsolt Urban; Jimin Gao; F Michael Pope; Elaine C Davis
Journal:  J Invest Dermatol       Date:  2005-06       Impact factor: 8.551

5.  Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.

Authors:  K B Lane; R D Machado; M W Pauciulo; J R Thomson; J A Phillips; J E Loyd; W C Nichols; R C Trembath
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

6.  A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

Authors:  Eva Morava; Renate Zeevaert; Eckhard Korsch; Karin Huijben; Suzan Wopereis; Gert Matthijs; Kathelijn Keymolen; Dirk J Lefeber; Linda De Meirleir; Ron A Wevers
Journal:  Eur J Hum Genet       Date:  2007-03-14       Impact factor: 4.246

7.  Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.

Authors:  Zsolt Urban; Vishwanathan Hucthagowder; Nura Schürmann; Vesna Todorovic; Lior Zilberberg; Jiwon Choi; Carla Sens; Chester W Brown; Robin D Clark; Kristen E Holland; Michael Marble; Lynn Y Sakai; Branka Dabovic; Daniel B Rifkin; Elaine C Davis
Journal:  Am J Hum Genet       Date:  2009-10-15       Impact factor: 11.025

8.  Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Authors:  Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Journal:  Nat Genet       Date:  2007-12-23       Impact factor: 38.330

9.  Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.

Authors:  Xiaohua Wu; Richard A Steet; Ognian Bohorov; Jaap Bakker; John Newell; Monty Krieger; Leo Spaapen; Stuart Kornfeld; Hudson H Freeze
Journal:  Nat Med       Date:  2004-04-25       Impact factor: 53.440

10.  Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.

Authors:  Majed Dasouki; Dessislava Markova; Robert Garola; Takako Sasaki; Noe L Charbonneau; Lynn Y Sakai; Mon-Li Chu
Journal:  Am J Med Genet A       Date:  2007-11-15       Impact factor: 2.802
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  1 in total

1.  Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Authors:  Thatjana Gardeitchik; Miski Mohamed; Björn Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki-Joong Kim; Bing C Lim; Johannes Häberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leão; Riikka Keski-Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; Uwe Kornak; Eva Morava
Journal:  Eur J Hum Genet       Date:  2013-08-21       Impact factor: 4.246
  1 in total

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