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Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Genetics in medicine, 2021-02, Vol.23 (2), p.316-322

2021

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Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome

Frontiers in genetics, 2023-03, Vol.14, p.1147607

2023

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Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

Orphanet journal of rare diseases, 2024-07, Vol.19 (1), p.272-3, Article 272

2024

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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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Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals

British journal of haematology, 2019-11, Vol.187 (4), p.509-517

2019

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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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An exemplary model of genetic counselling for highly specialised services

Journal of community genetics, 2023-04, Vol.14 (2), p.115-119

2023

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Genetic testing in patients with unexplained coronary aneurysms or dilation

European heart journal, 2024-05, Vol.45 (18), p.1610-1612

2024

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Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2944-2958

2007

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Fatigue in adults with Osteogenesis Imperfecta

BMC musculoskeletal disorders, 2020-01, Vol.21 (1), p.6-6, Article 6

2020

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Facilitating genetic testing after death: the ongoing duty of care to the deceased and their relatives

Journal of the Royal Society of Medicine, 2023-06, Vol.116 (6), p.193-198

2023

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Radiotherapy Late Effects and Osteogenesis Imperfecta: Dos and Don’ts in Clinical Practice

Case reports in oncology, 2019-01, Vol.12 (1), p.322-331

2019

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Fractures following pregnancy in Osteogenesis imperfecta – A self-controlled case series using Danish Health Registers

Bone (New York, N.Y.), 2022-01, Vol.154, p.116177-116177, Article 116177

2022

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Ehlers-Danlos syndromes: importance of defining the type

Practical neurology, 2024-04, Vol.24 (2), p.90-97

2024

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SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

Human mutation, 2015-12, Vol.36 (12), p.1145-1149

2015

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Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements

Bone Reports, 2018-06, Vol.8, p.168-172

2018

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Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

Journal of clinical periodontology, 2022-12, Vol.49 (12), p.1244-1252

2022

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Case report: Two individuals with AEBP1 -related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

Frontiers in genetics, 2023-04, Vol.14, p.1148224

2023

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Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

Circulation. Cardiovascular genetics, 2015-04, Vol.8 (2), p.383-388

2015

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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Journal of medical genetics, 2024-03, Vol.61 (3), p.232-238

2024

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Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

American journal of human genetics, 2020-11, Vol.107 (5), p.989-999

2020

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Arterial complications in classical Ehlers-Danlos syndrome: a case series

Journal of medical genetics, 2020-11, Vol.57 (11), p.769-776

2020

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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.11-19

2012

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PLS3 Mutations in X-Linked Osteoporosis with Fractures

Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome

Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

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

Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals

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

An exemplary model of genetic counselling for highly specialised services

Genetic testing in patients with unexplained coronary aneurysms or dilation

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

Fatigue in adults with Osteogenesis Imperfecta

Facilitating genetic testing after death: the ongoing duty of care to the deceased and their relatives

Radiotherapy Late Effects and Osteogenesis Imperfecta: Dos and Don’ts in Clinical Practice

Fractures following pregnancy in Osteogenesis imperfecta – A self-controlled case series using Danish Health Registers

Ehlers-Danlos syndromes: importance of defining the type

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements

Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

Case report: Two individuals with AEBP1 -related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

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

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Arterial complications in classical Ehlers-Danlos syndrome: a case series

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

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