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Glenda J. Sobey
Observed names:
G Sobey,
G. J. Sobey,
G. Sobey,
G.J. Sobey,
Glenda J Sobey,
Glenda Sobey,
Sobey, Glenda
show all 7
Institutions:
Northern General Hospital,
Sheffield Children's NHS Foundation Trust,
Sheffield Children's Hospital
Observed institutions:
Boston Children's Hospital,
Greater Baltimore Medical Center,
University of Cape Town,
Ghent University Hospital,
Northern General Hospital,
Groote Schuur Hospital,
Sheffield Children's NHS Foundation Trust,
Sheffield Children's Hospital,
University of Brescia
show all 9
ORCID:
0000-0001-8024-503X
Observed ORCID:
0000-0001-8024-503X
OpenAlex ID:
A5032345011
The 2017 international classification of the Ehlers–Danlos syndromes
2017
·
Fransiska Malfait
, Clair Francomano
, et al.
·
American Journal of Medical Genetics Part C Seminars in Medical Genetics
·
1,936
PDF
Ehlers–Danlos syndrome, classical type
2017
·
Jessica M. Bowen
, Glenda J. Sobey
, et al.
·
American Journal of Medical Genetics Part C Seminars in Medical Genetics
·
184
PDF
Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests
2014
·
Glenda Sobey
·
Archives of Disease in Childhood
·
98
PDF
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
2023
·
Jessica M. Bowen
, Monica Hernandez
, et al.
·
European Journal of Human Genetics
·
64
PDF
Ehlers-Danlos syndromes
2019
·
Neeti Ghali
, Glenda Sobey
, et al.
·
BMJ
·
59
De Barsy syndrome: a review of the phenotype
2008
·
Emma C. Kivuva
, Michael J. Parker
, et al.
·
Clinical Dysmorphology
·
53
Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia
2020
·
Aline Verstraeten
, Melanie H.A.M. Perik
, et al.
·
Circulation
·
46
PDF
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
2021
·
Mari Minatogawa
, Ai Unzaki
, et al.
·
Journal of Medical Genetics
·
44
PDF
A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
2017
·
Cecilia Giunta
, Matthias Baumann
, et al.
·
Genetics in Medicine
·
44
PDF
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations
2016
·
Rebecca C. Pollitt
, Vrinda Saraff
, et al.
·
American Journal of Medical Genetics Part A
·
41
Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature
2020
·
Ines Kapferer-Seebacher
, Elizabeth Oakley-Hannibal
, et al.
·
Genetics in Medicine
·
33
Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility
2020
·
Claire Green
, Neeti Ghali
, et al.
·
Genetics in Medicine
·
26
Pattern of admissions to a tertiary dermatology unit in South Africa
2002
·
Sue Jessop
, Rowena McKenzie
, et al.
·
International Journal of Dermatology
·
25
Ehlers–Danlos syndrome – a commonly misunderstood group of conditions
2014
·
Glenda Sobey
·
Clinical Medicine
·
24
Dermatosparaxis ( E hlers– D anlos Type VIIC ): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery
2013
·
Joyce Solomons
, Paul Coucke
, et al.
·
American Journal of Medical Genetics Part A
·
23
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome
2020
·
Sandy Ayoub
, Neeti Ghali
, et al.
·
American Journal of Medical Genetics Part A
·
21
Mutations in POGLUT 1in Galli–Galli/Dowling–Degos disease
2016
·
N.J. Wilson
, C. Cole
, et al.
·
British Journal of Dermatology
·
20
PDF
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability
2019
·
Schaida Schirwani
, Kay Metcalfe
, et al.
·
European Journal of Medical Genetics
·
18
Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation
2016
·
M. Balasubramanian
, G. J. Sobey
, et al.
·
Ultrastructural Pathology
·
17
Mosaic Chromosome 6 Trisomy in an Epidermal Nevus
2007
·
Glenda J. Sobey
, Oliver W. Quarrell
, et al.
·
Pediatric Dermatology
·
14
Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta
2014
·
Meena Balasubramanian
, Bart E. Wagner
, et al.
·
Clinical Dysmorphology
·
13
Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome
2022
·
Ulrike Lepperdinger
, Chloe Angwin
, et al.
·
Journal Of Clinical Periodontology
·
12
PDF
Arterial complications in classical Ehlers-Danlos syndrome: a case series
2020
·
Chloe Angwin
, Angela F Brady
, et al.
·
Journal of Medical Genetics
·
10
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome
2023
·
C. Angwin
, J. Zschocke
, et al.
·
Frontiers in Genetics
·
8
Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB
2018
·
M. Zamiri
, N.J. Wilson
, et al.
·
British Journal of Dermatology
·
8
PDF
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Works count:
44
Citation count:
2,874
H-index:
18
I10-index:
23
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