Literature DB >> 7911701

BstUI and DpnII RFLPs at the COL5A1 gene.

D S Greenspan1, A E Pasquinelli.   

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Year:  1994        PMID： 7911701     DOI： 10.1093/hmg/3.2.385-a

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  10 in total

1.  Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

Authors:  U Schwarze; M Atkinson; G G Hoffman; D S Greenspan; P H Byers
Journal:  Am J Hum Genet       Date:  2000-05-04       Impact factor: 11.025

2.  Identification of genetic risk factors underlying complex multifactorial phenotypes.

Authors:  Michael Posthumus; Alison September; Martin P Schwellnus; Malcolm Collins
Journal:  Knee Surg Sports Traumatol Arthrosc       Date:  2010-09-25       Impact factor: 4.342

Review 3.  The genetics of sports injuries and athletic performance.

Authors:  Nicola Maffulli; Katia Margiotti; Umile Giuseppe Longo; Mattia Loppini; Vito Michele Fazio; Vincenzo Denaro
Journal:  Muscles Ligaments Tendons J       Date:  2013-08-11

4.  Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

Authors:  A De Paepe; L Nuytinck; I Hausser; I Anton-Lamprecht; J M Naeyaert
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

5.  Report of a critical recombination further narrowing the TSC1 region.

Authors:  K S Au; J Murrell; A Buckler; S H Blanton; H Northrup
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

6.  COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

Authors:  R J Wenstrup; J B Florer; M C Willing; C Giunta; B Steinmann; F Young; M Susic; W G Cole
Journal:  Am J Hum Genet       Date:  2000-04-24       Impact factor: 11.025

7.  An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Authors:  A C Nicholls; J E Oliver; S McCarron; J B Harrison; D S Greenspan; F M Pope
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

8.  The COL5A1 gene is associated with increased risk of carpal tunnel syndrome.

Authors:  Marilize Burger; Hanli de Wet; Malcolm Collins
Journal:  Clin Rheumatol       Date:  2014-06-26       Impact factor: 2.980

9.  The Variants Within the COL5A1 Gene are Associated with Reduced Risk of Anterior Cruciate Ligament Injury in Skiers.

Authors:  Marta Stępień-Słodkowska; Krzysztof Ficek; Mariusz Kaczmarczyk; Agnieszka Maciejewska-Karłowska; Marek Sawczuk; Agata Leońska-Duniec; Miłosz Stępiński; Paweł Ziętek; Paweł Król; Monika Chudecka; Paweł Cięszczyk
Journal:  J Hum Kinet       Date:  2015-04-07       Impact factor: 2.193

Review 10.  Association of COL5A1 gene polymorphisms and risk of tendon-ligament injuries among Caucasians: a meta-analysis.

Authors:  Noel Pabalan; Phuntila Tharabenjasin; Suphawadee Phababpha; Hamdi Jarjanazi
Journal:  Sports Med Open       Date:  2018-10-22
  10 in total

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