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The Ehlers–Danlos syndromes, rare types

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.70-115

2017

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Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy

Neurology, 2021-03, Vol.96 (13), p.e1783

2021

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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Journal of medical genetics, 2023-10, Vol.61 (3), p.232

2023

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COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Clinical genetics, 2020-03, Vol.97 (3), p.396-406

2020

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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.46-46

2011

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Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

Genetics in medicine, 2016-11, Vol.18 (11), p.1119-1127

2016

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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.386-391

2014

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Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case

Clinical dysmorphology, 2012-07, Vol.21 (3), p.152

2012

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The 2017 international classification of the Ehlers–Danlos syndromes

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.8-26

2017

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Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity

Pediatrics (Evanston), 2021-11, Vol.148 (5), p.1

2021

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Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype

Clinical dysmorphology, 2011-10, Vol.20 (4), p.210

2011

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Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: Confirmation of an entity

European journal of medical genetics, 2010-09, Vol.53 (5), p.314-317

2010

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A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

Matrix biology, 2020-06, Vol.88, p.1-18

2020

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

American journal of human genetics, 2016-11, Vol.99 (5), p.1005-1014

2016

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An Omental Lymphatic Malformation Mimicking Ascites in a 2‐Year‐Old Boy

Journal of pediatric gastroenterology and nutrition, 2018-07, Vol.67 (1), p.e14-e15

2018

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A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

European journal of medical genetics, 2020-02, Vol.63 (2), p.103730-103730, Article 103730

2020

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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports

Clinical and experimental rheumatology, 2022-05, Vol.40 Suppl 134 (5), p.46

2022

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Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

Genetics in medicine, 2020-10, Vol.22 (10), p.1576-1582

2020

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Poly(ethylene glycol) (PEG) as a reagent support: the preparation and utility of a PEG–triarylphosphine conjugate in liquid-phase organic synthesis (LPOS)

Chemical communications (Cambridge, England), 1997 (8), p.759-760

1997

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Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Genetics in medicine, 2020-03, Vol.22 (3), p.524-537

2020

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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.994-1007

2020

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

PLoS genetics, 2017-03, Vol.13 (3), p.e1006683

2017

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Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

Genetics in medicine, 2019-09, Vol.21 (9), p.2081-2091

2019

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The Ehlers–Danlos syndromes, rare types

Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case

The 2017 international classification of the Ehlers–Danlos syndromes

Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity

Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype

Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: Confirmation of an entity

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

An Omental Lymphatic Malformation Mimicking Ascites in a 2‐Year‐Old Boy

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

Poly(ethylene glycol) (PEG) as a reagent support: the preparation and utility of a PEG–triarylphosphine conjugate in liquid-phase organic synthesis (LPOS)

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

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