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The Ehlers-Danlos syndrome, a disorder with many faces

Clinical genetics, 2012-07, Vol.82 (1), p.1-11

2012

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Thoracic Aortic Aneurysm and Dissection

Journal of the American College of Cardiology, 2014-10, Vol.64 (16), p.1725-1739

2014

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High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders

Journal of allergy and clinical immunology, 2013-08, Vol.132 (2), p.378-386

2013

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Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

American journal of medical genetics. Part A, 2011-08, Vol.155A (8), p.1949-1958

2011

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Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment

Journal of pain and symptom management, 2010-09, Vol.40 (3), p.370-378

2010

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Symptom and joint mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type)

Clinical and experimental rheumatology, 2011-11, Vol.29 (6), p.998

2011

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Neuromuscular involvement in various types of Ehlers-Danlos syndrome

Annals of neurology, 2009-06, Vol.65 (6), p.687-697

2009

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

The Lancet (British edition), 2010-10, Vol.376 (9751), p.1476-1484

2010

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Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

American journal of human genetics, 2008-06, Vol.82 (6), p.1290-1305

2008

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Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: A pilot study on 21 patients

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.556-564

2010

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The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: A 30-year experience

Journal of vascular surgery, 2005-07, Vol.42 (1), p.98-106

2005

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Ehlers‐Danlos syndrome – a historical review

British journal of haematology, 2008-04, Vol.141 (1), p.32-35

2008

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Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Journal of investigative dermatology, 2004-10, Vol.123 (4), p.656-663

2004

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Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.2055-2070

2012

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

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2176-2182

2012

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Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

American journal of human genetics, 2012-02, Vol.90 (2), p.201-216

2012

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Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

The New England journal of medicine, 2000-03, Vol.342 (10), p.673-680

2000

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Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.850-855

2012

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Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos Syndrome

Research in developmental disabilities, 2013-03, Vol.34 (3), p.873-881

2013

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Ehlers–Danlos syndrome – a commonly misunderstood group of conditions

Clinical medicine (London, England), 2014-08, Vol.14 (4), p.432-436

Sobey, Glenda

2014

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Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers- Danlos syndrome

Cardiovascular research, 2011-04, Vol.90 (1), p.182-190

2011

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Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders

British journal of haematology, 2004-12, Vol.127 (5), p.491-500

2004

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Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.2090-2093

2010

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A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X Deficiency

The New England journal of medicine, 2001-10, Vol.345 (16), p.1167-1175

2001

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Measuring regularity of human postural sway using approximate entropy and sample entropy in patients with Ehlers–Danlos syndrome hypermobility type

Research in developmental disabilities, 2013-02, Vol.34 (2), p.840-846

2013

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The Ehlers-Danlos syndrome, a disorder with many faces

Thoracic Aortic Aneurysm and Dissection

High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment

Symptom and joint mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type)

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

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

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: A pilot study on 21 patients

The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: A 30-year experience

Ehlers‐Danlos syndrome – a historical review

Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach

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

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos Syndrome

Ehlers–Danlos syndrome – a commonly misunderstood group of conditions

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers- Danlos syndrome

Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders

Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation

A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X Deficiency

Measuring regularity of human postural sway using approximate entropy and sample entropy in patients with Ehlers–Danlos syndrome hypermobility type

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