4.2 Review

The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Surgery

Treatment of Vascular Ehlers-Danlos Syndrome A Systematic Review

David Bergqvist et al.

ANNALS OF SURGERY (2013)

Article Urology & Nephrology

Pregnancy in women with Alport syndrome

Francesca Crovetto et al.

INTERNATIONAL UROLOGY AND NEPHROLOGY (2013)

Review Urology & Nephrology

Alport syndrome-insights from basic and clinical research

Jenny Kruegel et al.

NATURE REVIEWS NEPHROLOGY (2013)

Article Genetics & Heredity

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

Yuriko Yoneda et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Obstetrics & Gynecology

Ehlers Danlos Syndrome Type IV and pregnancy

Rebecca Hammond et al.

ARCHIVES OF GYNECOLOGY AND OBSTETRICS (2012)

Article Genetics & Heredity

The Ehlers-Danlos syndrome, a disorder with many faces

A. De Paepe et al.

CLINICAL GENETICS (2012)

Article Dermatology

Epidermolysis bullosa acquisita

Rishu Gupta et al.

CLINICS IN DERMATOLOGY (2012)

Article Biochemistry & Molecular Biology

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Fleur S. van Dijk et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Article Biochemistry & Molecular Biology

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

Debbie S. Kuo et al.

HUMAN MOLECULAR GENETICS (2012)

Review Pediatrics

Clinical phenotypes associated with type II collagen mutations

Peter Kannu et al.

JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2012)

Review Cardiac & Cardiovascular Systems

Management of Pregnancy in Patients with Congenital Heart Disease

Ian S. Harris

PROGRESS IN CARDIOVASCULAR DISEASES (2011)

Article Rheumatology

Premature Arthritis Is a Distinct Type II Collagen Phenotype

Peter Kannu et al.

ARTHRITIS AND RHEUMATISM (2010)

Review Genetics & Heredity

Classification of Osteogenesis Imperfecta revisited

F. S. Van Dijk et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2010)

Article Urology & Nephrology

Genotype-Phenotype Correlation in X-Linked Alport Syndrome

Mir Reza Bekheirnia et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)

Article Obstetrics & Gynecology

Management of Renal Disease in Pregnancy

Tiina Podymow et al.

OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA (2010)

Review Pediatrics

Genetic and orthopedic aspects of collagen disorders

Erin M. Carter et al.

CURRENT OPINION IN PEDIATRICS (2009)

Review Dermatology

Extracutaneous manifestations and complications of inherited epidermolysis bullosa Part II. Other organs

Jo-David Fine et al.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2009)

Review Dermatology

Extracutaneous manifestations and complications of inherited epidermolysis bullosa Part I. Epithelial associated tissues

Jo-David Fine et al.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2009)

Article Dermatology

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

Jo-David Fine et al.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2009)

Article Clinical Neurology

'Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

S. Alamowitch et al.

NEUROLOGY (2009)

Letter Genetics & Heredity

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

Cecilia Giunta et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Clinical Neurology

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

Rishika A. Pace et al.

ANNALS OF NEUROLOGY (2008)

Article Clinical Neurology

Predominant fiber atrophy and fiber type disproportion in early Ullrich disease

Joachim Schessl et al.

MUSCLE & NERVE (2008)

Article Clinical Neurology

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

L. Merlini et al.

NEUROLOGY (2008)

Article Obstetrics & Gynecology

Ehlers-Danlos type IV in pregnancy

Y. Erez et al.

FETAL DIAGNOSIS AND THERAPY (2008)

Article Medicine, General & Internal

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

Emmanuelle Plaisier et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

Article Biochemistry & Molecular Biology

Secretion and assembly of type IV and VI collagens depend on glycosylation of hydroxylysines

Laura Sipilae et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Medicine, General & Internal

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

DB Gould et al.

NEW ENGLAND JOURNAL OF MEDICINE (2006)

Article Clinical Neurology

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

MS van der Knaap et al.

ANNALS OF NEUROLOGY (2006)

Article Genetics & Heredity

Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations -: Findings in 10 patients

O Mäkitie et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Medicine, General & Internal

Type II collagen gene variants and inherited osteonecrosis of the femoral head

YF Liu et al.

NEW ENGLAND JOURNAL OF MEDICINE (2005)

Article Biochemistry & Molecular Biology

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

NL Baker et al.

HUMAN MOLECULAR GENETICS (2005)

Article Biochemistry & Molecular Biology

Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino)

S Dertinger et al.

FRONTIERS IN BIOSCIENCE-LANDMARK (2005)

Article Genetics & Heredity

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

L Faivre et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)

Review Medicine, General & Internal

Osteogenesis imperfecta

F Rauch et al.

LANCET (2004)

Article Genetics & Heredity

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

G Nishimura et al.

JOURNAL OF MEDICAL GENETICS (2004)

Article Biochemistry & Molecular Biology

Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs

CW Franzke et al.

EMBO JOURNAL (2002)

Article Genetics & Heredity

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

E Demir et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2002)

Article Anesthesiology

Pregnancy complicated by severe osteogenesis imperfecta: A report of two cases

TM Vogel et al.

ANESTHESIA AND ANALGESIA (2002)

Article Urology & Nephrology

Renal transplant in patients with Alport's syndrome

MC Byrne et al.

AMERICAN JOURNAL OF KIDNEY DISEASES (2002)

Article Obstetrics & Gynecology

Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population

J Lind et al.

ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA (2002)

Review Obstetrics & Gynecology

Osteogenesis imperfecta in pregnancy: Two case reports and review of literature

A Sharma et al.

OBSTETRICAL & GYNECOLOGICAL SURVEY (2001)

Article Obstetrics & Gynecology

Osteogenesis imperfecta: Mode of delivery and neonatal outcome

R Cubert et al.

OBSTETRICS AND GYNECOLOGY (2001)

Review Pediatrics

Osteogenesis imperfecta: perspectives and opportunities

PH Byers

CURRENT OPINION IN PEDIATRICS (2000)

Article Genetics & Heredity

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

L Nuytinck et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)

Article Medicine, General & Internal

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

M Pepin et al.

NEW ENGLAND JOURNAL OF MEDICINE (2000)