Literature DB >> 23010751

Clinical utility gene card for: osteogenesis imperfecta.

Fleur S van Dijk1, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Agnieszka Rusinska, Oliver Semler, Sofie Symoens, Gerard Pals.   

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Year:  2012        PMID： 23010751      PMCID： PMC3658202          DOI： 10.1038/ejhg.2012.210

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  14 in total

Review 1.  Classification of Osteogenesis Imperfecta revisited.

Authors:  F S Van Dijk; G Pals; R R Van Rijn; P G J Nikkels; J M Cobben
Journal:  Eur J Med Genet       Date:  2009-10-28       Impact factor: 2.708

2.  The Human Collagen Mutation Database 1998.

Authors:  R Dalgleish
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

3.  The human type I collagen mutation database.

Authors:  R Dalgleish
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

Review 4.  New perspectives on osteogenesis imperfecta.

Authors:  Antonella Forlino; Wayne A Cabral; Aileen M Barnes; Joan C Marini
Journal:  Nat Rev Endocrinol       Date:  2011-06-14       Impact factor: 43.330

5.  Genetic heterogeneity in osteogenesis imperfecta.

Authors:  D O Sillence; A Senn; D M Danks
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

6.  A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

Authors:  Tae-Joon Cho; Kyung-Eun Lee; Sook-Kyung Lee; Su Jeong Song; Kyung Jin Kim; Daehyun Jeon; Gene Lee; Ha-Neui Kim; Hye Ran Lee; Hye-Hyun Eom; Zang Hee Lee; Ok-Hwa Kim; Woong-Yang Park; Sung Sup Park; Shiro Ikegawa; Won Joon Yoo; In Ho Choi; Jung-Wook Kim
Journal:  Am J Hum Genet       Date:  2012-08-02       Impact factor: 11.025

7.  Current and emerging treatments for the management of osteogenesis imperfecta.

Authors:  Elena Monti; Monica Mottes; Paolo Fraschini; Piercarlo Brunelli; Antonella Forlino; Giacomo Venturi; Francesco Doro; Silvia Perlini; Paolo Cavarzere; Franco Antoniazzi
Journal:  Ther Clin Risk Manag       Date:  2010-09-07       Impact factor: 2.423

Review 8.  Nosology and classification of genetic skeletal disorders: 2010 revision.

Authors:  Matthew L Warman; Valerie Cormier-Daire; Christine Hall; Deborah Krakow; Ralph Lachman; Martine LeMerrer; Geert Mortier; Stefan Mundlos; Gen Nishimura; David L Rimoin; Stephen Robertson; Ravi Savarirayan; David Sillence; Juergen Spranger; Sheila Unger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Med Genet A       Date:  2011-03-15       Impact factor: 2.802

9.  EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Authors:  Fleur S van Dijk; Peter H Byers; Raymond Dalgleish; Fransiska Malfait; Alessandra Maugeri; Marianne Rohrbach; Sofie Symoens; Erik A Sistermans; Gerard Pals
Journal:  Eur J Hum Genet       Date:  2011-08-10       Impact factor: 4.246

10.  A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.

Authors:  Oliver Semler; Lutz Garbes; Katharina Keupp; Daniel Swan; Katharina Zimmermann; Jutta Becker; Sandra Iden; Brunhilde Wirth; Peer Eysel; Friederike Koerber; Eckhard Schoenau; Stefan K Bohlander; Bernd Wollnik; Christian Netzer
Journal:  Am J Hum Genet       Date:  2012-08-02       Impact factor: 11.043
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  1 in total

1.  Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease.

Authors:  Julia Hoefele; Karin Mayer; Christoph Marschall; Martin Alberer; Hanns-Georg Klein; Martin Kirschstein
Journal:  World J Pediatr       Date:  2016-04-08       Impact factor: 2.764
  1 in total

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