Literature DB >> 23448908

Early childhood presentation of Czech dysplasia.

Lindsay C Burrage1, James T Lu, David S Liu, Timothy J Moss, Richard Gibbs, Alan E Schlesinger, Carlos A Bacino, Philippe M Campeau, Brendan H Lee.   

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Year:  2013        PMID： 23448908      PMCID： PMC3673284          DOI： 10.1097/MCD.0b013e32835fff39

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


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  13 in total

1.  Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.

Authors:  Ivo Marik; Olga Marikova; Dana Zemkova; Miroslav Kuklik; Kazimierz Kozlowski
Journal:  Skeletal Radiol       Date:  2004-01-17       Impact factor: 2.199

2.  The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Authors:  K P Hoornaert; C Dewinter; I Vereecke; F A Beemer; W Courtens; A Fryer; H Fryssira; M Lees; A Müllner-Eidenböck; D L Rimoin; L Siderius; A Superti-Furga; K Temple; P J Willems; A Zankl; C Zweier; A De Paepe; P Coucke; G R Mortier
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

3.  Precocious osteoarthritis in a family with recurrent COL2A1 mutation.

Authors:  Kerri M Carlson; Karen M Yamaga; Kent A Reinker; Yujen E Hsia; Clyde Carpenter; Lucienne M Abe; Andrea K Perry; Donald A Person; Douglas A Marchuk; Ellen M Raney
Journal:  J Rheumatol       Date:  2006-06       Impact factor: 4.666

4.  Czech dysplasia occurring in a Japanese family.

Authors:  Yoshito Matsui; Toshimi Michigami; Kanako Tachikawa; Miwa Yamazaki; Hidehiko Kawabata; Gen Nishimura
Journal:  Am J Med Genet A       Date:  2009-10       Impact factor: 2.802

5.  Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1?

Authors:  J F Bleasel; D Holderbaum; V Mallock; T M Haqqi; H J Williams; R W Moskowitz
Journal:  J Rheumatol       Date:  1996-09       Impact factor: 4.666

6.  Czech dysplasia metatarsal type.

Authors:  K Kozlowski; I Marik; O Marikova; D Zemkova; M Kuklik
Journal:  Am J Med Genet A       Date:  2004-08-15       Impact factor: 2.802

7.  Czech dysplasia metatarsal type: another type II collagen disorder.

Authors:  Kristien P Hoornaert; Ivo Marik; Kazimierz Kozlowski; Trevor Cole; Martine Le Merrer; Jules G Leroy; Paul J Coucke; David Sillence; Geert R Mortier
Journal:  Eur J Hum Genet       Date:  2007-08-29       Impact factor: 4.246

8.  Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.

Authors:  J F Bleasel; A Bisagni-Faure; D Holderbaum; M C Vacher-Lavenu; T M Haqqi; R W Moskowitz; C J Menkes
Journal:  J Rheumatol       Date:  1995-02       Impact factor: 4.666

9.  Czech dysplasia: report of a large family and further delineation of the phenotype.

Authors:  Andreas Tzschach; Sigrid Tinschert; Elke Kaminsky; Eugen Lusga; Stefan Mundlos; Luitgard M Graul-Neumann
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

10.  Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).

Authors:  C J Williams; E L Considine; R G Knowlton; A Reginato; G Neumann; D Harrison; P Buxton; S Jimenez; D J Prockop
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132
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  2 in total

1.  Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.

Authors:  Julie Jurgens; Nara Sobreira; Peggy Modaff; Catherine A Reiser; Soo Hyun Seo; Moon-Woo Seong; Sung Sup Park; Ok Hwa Kim; Tae-Joon Cho; Richard M Pauli
Journal:  Hum Mutat       Date:  2015-08-06       Impact factor: 4.878

2.  The genetic basis of DOORS syndrome: an exome-sequencing study.

Authors:  Philippe M Campeau; Dalia Kasperaviciute; James T Lu; Lindsay C Burrage; Choel Kim; Mutsuki Hori; Berkley R Powell; Fiona Stewart; Têmis Maria Félix; Jenneke van den Ende; Marzena Wisniewska; Hülya Kayserili; Patrick Rump; Sheela Nampoothiri; Salim Aftimos; Antje Mey; Lal D V Nair; Michael L Begleiter; Isabelle De Bie; Girish Meenakshi; Mitzi L Murray; Gabriela M Repetto; Mahin Golabi; Edward Blair; Alison Male; Fabienne Giuliano; Ariana Kariminejad; William G Newman; Sanjeev S Bhaskar; Jonathan E Dickerson; Bronwyn Kerr; Siddharth Banka; Jacques C Giltay; Dagmar Wieczorek; Anna Tostevin; Joanna Wiszniewska; Sau Wai Cheung; Raoul C Hennekam; Richard A Gibbs; Brendan H Lee; Sanjay M Sisodiya
Journal:  Lancet Neurol       Date:  2013-11-29       Impact factor: 44.182
  2 in total

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