Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta-Reference-Cited by-同舟云学术

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Published:2016-12-20 Issue:1 Volume:5 Page:28-39
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Caparros-Martin Jose A.¹²,Aglan Mona S.³,Temtamy Samia³,Otaify Ghada A.³,Valencia Maria²,Nevado Julián⁴,Vallespin Elena⁴,Del Pozo Angela⁴,Prior de Castro Carmen⁴,Calatrava-Ferreras Lucia¹²,Gutierrez Pilar⁵,Bueno Ana M.⁵,Sagastizabal Belen⁵,Guillen-Navarro Encarna²⁶,Ballesta-Martinez Maria⁶,Gonzalez Vanesa⁶,Basaran Sarenur Y.⁷,Buyukoglan Ruksan⁸,Sarikepe Bilge⁹,Espinoza-Valdez Cecilia¹⁰,Cammarata-Scalisi Francisco¹¹,Martinez-Glez Victor²⁴,Heath Karen E.²⁴¹²,Lapunzina Pablo²⁴¹²,Ruiz-Perez Victor L.¹²¹²

Affiliation:

1. Instituto de Investigaciones Biomédicas; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid; Madrid Spain

2. CIBER de enfermedades Raras (CIBERER); Madrid Spain

3. Human Genetics and Genome Research Division; Centre of Excellence of Human Genetics; National Research Centre; Cairo Egypt

4. Instituto de Genética Médica y Molecular (INGEMM); Hospital Universitario La Paz-IdiPaz; Universidad Autónoma de Madrid; Madrid Spain

5. Orthopedic Surgery Department and Endocrinology Department; Hospital Universitario de Getafe; Madrid Spain

6. Unidad de Genética Médica; Servicio de Pediatría; Hospital Universitario Virgen de la Arrixaca; Murcia Spain

7. Department of Medical Genetics; Faculty of Medicine; Istanbul Medeniyet University; Istanbul Turkey

8. Department of Genetics; Faculty of Medicine; Erciyes University; Kayseri Turkey

9. Department of Genetics; School of Medicine; Pamukkale University; Denizli Turkey

10. Hospital Universitario Católico; Cuenca Ecuador

11. Unidad de Genética Médica; Departamento de Pediatría; Universidad de Los Andes; Mérida Venezuela

12. Skeletal Dysplasia Multidisciplinary Unit (UMDE); Hospital Universitario La Paz; Madrid Spain

Funder

Ministerio de Economía y Competitividad

CIBERER

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference41 articles.

1. A scoring system for the assessment of clinical severity in osteogenesis imperfecta;Aglan;J. Child. Orthop.,2012

2. Suppression of peripheral pain by blockade of voltage-Gated calcium 2.2 channels in nociceptors induces RANKL and impairs recovery from inflammatory arthritis in a mouse model;Baddack;Arthritis Rheumatol.,2015

3. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum;Bardai;Osteoporos. Int.,2016

4. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding;Barnes;N. Engl. J. Med.,2010

5. Osteogenesis imperfecta;Byers;Annu. Rev. Med.,1992

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