The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

Treatment of Vascular Ehlers-Danlos Syndrome

(2013) David Bergqvist et al.   ANNALS OF SURGERY

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients

(2012) Marco Castori et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Ehlers-Danlos syndrome, a disorder with many faces

(2012) A De Paepe et al.   CLINICAL GENETICS

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

(2012) D. S. Kuo et al.   HUMAN MOLECULAR GENETICS

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

(2012) Sofie Symoens et al.   HUMAN MUTATION

Pregnancy in women with Alport syndrome

(2012) Francesca Crovetto et al.   INTERNATIONAL UROLOGY AND NEPHROLOGY

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

(2012) Johanna Temme et al.   KIDNEY INTERNATIONAL

Alport syndrome—insights from basic and clinical research

(2012) Jenny Kruegel et al.   Nature Reviews Nephrology

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

(2011) Yuriko Yoneda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ehlers Danlos Syndrome Type IV and pregnancy

(2011) Rebecca Hammond et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

Epidermolysis bullosa acquisita

(2011) Rishu Gupta et al.   CLINICS IN DERMATOLOGY

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

(2011) Fleur S van Dijk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical phenotypes associated with type II collagen mutations

(2011) Peter Kannu et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia

(2011) Dennis R. Roy   JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

(2011) Oliver Gross et al.   KIDNEY INTERNATIONAL

Management of Pregnancy in Patients with Congenital Heart Disease

(2011) Ian S. Harris   PROGRESS IN CARDIOVASCULAR DISEASES

Premature arthritis is a distinct type II collagen phenotype

(2010) Peter Kannu et al.   ARTHRITIS AND RHEUMATISM

Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers–Danlos syndrome hypermobility type

(2010) Lies Rombaut et al.   DISABILITY AND REHABILITATION

Genotype-Phenotype Correlation in X-Linked Alport Syndrome

(2010) M. R. Bekheirnia et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial

(2010) Kim-Thanh Ong et al.   LANCET

Management of Renal Disease in Pregnancy

(2010) Tiina Podymow et al.   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

Genetic and orthopedic aspects of collagen disorders

(2009) Erin M Carter et al.   CURRENT OPINION IN PEDIATRICS

Classification of Osteogenesis Imperfecta revisited

(2009) F.S. Van Dijk et al.   European Journal of Medical Genetics

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

(2009) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

(2009) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

(2009) S. Alamowitch et al.   NEUROLOGY

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure

(2008) Cecilia Giunta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

(2008) Rishika A. Pace et al.   ANNALS OF NEUROLOGY

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

(2008) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Epidermolysis bullosa and the risk of life-threatening cancers: The National EB Registry experience, 1986-2006

(2008) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Predominant fiber atrophy and fiber type disproportion in early ullrich disease

(2008) Joachim Schessl et al.   MUSCLE & NERVE

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

(2008) L. Merlini et al.   NEUROLOGY