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Items: 1 to 50 of 192

1.

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.

Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope FM.

Acta Derm Venereol. 2020 Mar 25;100(7):adv00092. doi: 10.2340/00015555-3428.

2.

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

Ayoub S, Ghali N, Angwin C, Baker D, Baffini S, Brady AF, Giovannucci Uzielli ML, Giunta C, Johnson DS, Kosho T, Neas K, Pope FM, Rutsch F, Scarselli G, Sobey G, Vandersteen A, van Dijk FS.

Am J Med Genet A. 2020 Feb 24. doi: 10.1002/ajmg.a.61523. [Epub ahead of print]

PMID:
32091183
3.

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.

Oakley-Hannibal E, Ghali N, Pope FM, De Franco E, Ellard S, van Dijk FS, Brady AF.

Clin Dysmorphol. 2020 Jan;29(1):69-72. doi: 10.1097/MCD.0000000000000304. No abstract available.

PMID:
31609726
4.

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients.

Angwin C, Brady AF, Colombi M, Ferguson DJP, Pollitt R, Pope FM, Ritelli M, Symoens S, Ghali N, van Dijk FS.

Genes (Basel). 2019 Sep 27;10(10). pii: E762. doi: 10.3390/genes10100762.

5.

Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.

Angwin C, Ghali N, Baker D, Brady AF, Pope FM, Vandersteen A, Wagner B, Ferguson DJP, van Dijk FS.

Br J Dermatol. 2020 Mar;182(3):698-707. doi: 10.1111/bjd.18165. Epub 2019 Aug 21.

PMID:
31141158
6.

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

Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, Frank M, Germain DP, Hulmes DJS, Jacquemont ML, Kannu P, Lefroy H, Legrand A, Pope FM, Robertson L, Vandersteen A, von Klemperer K, Warburton R, Whiteford M, van Dijk FS.

Genet Med. 2019 Sep;21(9):2081-2091. doi: 10.1038/s41436-019-0470-9. Epub 2019 Mar 6.

PMID:
30837697
7.

Intrafamilial variability of clinical features in distal arthrogryposis type 2B.

de Burca A, Ioannou C, Vandersteen A, Pope FM, Cilliers DD.

Clin Dysmorphol. 2019 Jan;28(1):35-37. doi: 10.1097/MCD.0000000000000243. No abstract available.

PMID:
30216196
8.

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.

Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M.

Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15.

9.

The 2017 international classification of the Ehlers-Danlos syndromes.

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.

PMID:
28306229
10.

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

Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA, Ferguson D, Cheshire NJ, Kazkaz H, Grahame R, Ghali N, Vandersteen A, Pope FM, Aitman TJ.

Genet Med. 2016 Nov;18(11):1119-1127. doi: 10.1038/gim.2016.14. Epub 2016 Mar 24.

PMID:
27011056
11.

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

Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium, Byers PH, Zschocke J.

Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13.

12.

Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness.

George SM, Vandersteen A, Nigar E, Ferguson DJ, Topham EJ, Pope FM.

Clin Exp Dermatol. 2016 Oct;41(7):771-4. doi: 10.1111/ced.12911.

PMID:
27663155
13.

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.

McKenna C, Vandersteen A, Wakeling E, Pope FM, Ghali N.

Clin Dysmorphol. 2017 Jan;26(1):50-57. No abstract available.

PMID:
27295357
14.

Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.

Stembridge NS, Vandersteen AM, Ghali N, Sawle P, Nesbitt M, Pollitt RC, Ferguson DJ, Holden S, Elmslie F, Henderson A, Hulmes DJ, Pope FM.

Am J Med Genet A. 2015 Aug;167A(8):1763-72. doi: 10.1002/ajmg.a.37081. Epub 2015 Apr 5.

PMID:
25846194
15.

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.

Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM.

Am J Med Genet A. 2014 Feb;164A(2):386-91. doi: 10.1002/ajmg.a.36285. Epub 2013 Dec 5.

PMID:
24311407
16.

Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome.

Foulkes AC, Pollitt R, Sobey G, Pope FM, Taylor AE.

Clin Exp Dermatol. 2013 Jul;38(5):517-9. doi: 10.1111/ced.12064. Epub 2013 May 15.

PMID:
23672283
17.

Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.

Solomons J, Coucke P, Symoens S, Cohen MC, Pope FM, Wagner BE, Sobey G, Black R, Cilliers D.

Am J Med Genet A. 2013 May;161A(5):1122-5. doi: 10.1002/ajmg.a.35802. Epub 2013 Mar 13.

PMID:
23495203
18.

Paediatric surgical complications of Ehlers-Danlos syndrome.

Amjad B, Hajivassiliou CA, Pope FM.

Eur J Pediatr Surg. 2014 Aug;24(4):e1-2. doi: 10.1055/s-2007-965474. Epub 2009 Jul 7. No abstract available.

PMID:
19585409
19.

An atypical cutaneous presentation of vasculitis with features of Churg-Strauss syndrome, associated with anti-neutrophil cytoplasmic antibodies and anti-glomerular basement membrane antibodies.

Gleeson CM, Levy JB, Cook HT, Francis ND, Robson A, Pope FM.

Clin Exp Dermatol. 2009 Dec;34(8):e577-80. doi: 10.1111/j.1365-2230.2009.03248.x. Epub 2009 Jun 24.

PMID:
19558532
20.

Molecular genetic and clinical review of Ehlers-Danlos Type VIIA: implications for management by the plastic surgeon in a multidisciplinary setting.

Whitaker IS, Rozen WM, Cairns SA, Howes J, Pope FM, Hamish Laing J.

J Plast Reconstr Aesthet Surg. 2009 May;62(5):589-94. doi: 10.1016/j.bjps.2008.11.119. Epub 2009 Feb 23. Review.

PMID:
19233756
21.

Ehlers-Danlos syndrome type IV in a young man.

Asherson RA, Bosman C, Tikly M, Spiro F, Pope FM.

J Rheumatol. 2006 Oct;33(10):2091-6.

PMID:
17014025
22.

Unexpected ultrastructral changes in bone osteiod collagens in osteogenesis imperfecta.

Sarathchandra P, Pope FM.

Micron. 2005;36(7-8):696-702. Epub 2005 Sep 7.

PMID:
16182545
23.
24.

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N.

Am J Hum Genet. 2003 Oct;73(4):791-800. Epub 2003 Aug 21.

25.

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM.

QJM. 2003 Sep;96(9):663-71.

PMID:
12925722
26.

Connective tissue naevus (collagenoma) in a patient with benign joint hypermobility syndrome (Ehlers-Danlos syndrome type III).

Sidwell RU, Francis N, Grahame R, Pope FM, Bunker CB.

Clin Exp Dermatol. 2003 May;28(3):323-5. No abstract available.

PMID:
12780726
27.

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

Rahman N, Dunstan M, Teare MD, Hanks S, Douglas J, Coleman K, Bottomly WE, Campbell ME, Berglund B, Nordenskjöld M, Forssell B, Burrows N, Lunt P, Young I, Williams N, Bignell GR, Futreal PA, Pope FM.

Am J Hum Genet. 2003 Jul;73(1):198-204. Epub 2003 May 29.

28.

Severe panniculitis caused by homozygous ZZ alpha1-antitrypsin deficiency treated successfully with human purified enzyme (Prolastin).

Chowdhury MM, Williams EJ, Morris JS, Ferguson BJ, McGregor AD, Hedges AR, Stamatakis JD, Pope FM.

Br J Dermatol. 2002 Dec;147(6):1258-61.

PMID:
12452881
29.

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.

Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM.

Am J Hum Genet. 2002 Oct;71(4):975-80. Epub 2002 Sep 4.

30.

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H.

J Med Genet. 2002 Sep;39(9):661-5.

31.

Pulmonary valvuloplasty in a case of vascular Ehlers-Danlos syndrome.

Tsai-Goodman B, Martin RP, Pope FM, Stuart AG.

Catheter Cardiovasc Interv. 2002 Sep;57(1):92-4.

PMID:
12203938
32.

Type IV Ehlers-Danlos syndrome: a surgical emergency.

Soonawalla Z, Pope FM, Puntis M.

Postgrad Med J. 2002 Aug;78(922):501-2, 506. No abstract available.

33.

A novel ophthalmic presentation of the Proteus syndrome.

Sheard RM, Pope FM, Snead MP.

Ophthalmology. 2002 Jun;109(6):1192-5.

PMID:
12045066
34.

Elastosis perforans serpiginosa and associated disorders.

Mehta RK, Burrows NP, Payne CM, Mendelsohn SS, Pope FM, Rytina E.

Clin Exp Dermatol. 2001 Sep;26(6):521-4. Review.

PMID:
11678881
35.

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD.

Am J Hum Genet. 2001 Oct;69(4):749-64. Epub 2001 Aug 31. Erratum in: Am J Hum Genet 2001 Dec;69(6):1413. Am J Hum Genet 2002 Aug;71(2):448.

36.

The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi.

Woodrow SL, Pope FM, Handfield-Jones SE.

Br J Dermatol. 2001 Apr;144(4):890-3.

PMID:
11298556
37.

Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.

Nicholls AC, Valler D, Wallis S, Pope FM.

J Med Genet. 2001 Feb;38(2):132-6. No abstract available.

38.

Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII.

Nicholls AC, Sher JL, Wright MJ, Oley C, Mueller RF, Pope FM.

J Med Genet. 2000 Nov;37(11):E33. No abstract available.

39.
40.

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD.

Nat Genet. 2000 Jun;25(2):223-7.

PMID:
10835642
41.

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.

Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM, Snead MP.

Br J Ophthalmol. 2000 Apr;84(4):364-71.

42.

Emergency repair of type A aortic dissection in type IV Ehlers-Danlos syndrome.

Ascione R, Gomes WJ, Bates M, Shannon JL, Pope FM, Angelini GD.

Cardiovasc Surg. 2000 Jan;8(1):75-8.

PMID:
10661708
43.

Morphometric analysis of type I collagen fibrils in the osteoid of osteogenesis imperfecta.

Sarathchandra P, Pope FM, Ali SY.

Calcif Tissue Int. 1999 Nov;65(5):390-5.

PMID:
10541766
44.

Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD.

Genomics. 1999 Nov 15;62(1):1-10. Erratum in: Genomics 2000 Feb 1;63(3):439.

PMID:
10585762
45.

Venous blebs on the toes in type IV Ehlers-Danlos syndrome.

Neelam M, Charles-Holmes R, Pope FM.

Br J Dermatol. 1999 Mar;140(3):543-4. No abstract available.

PMID:
10233287
46.

Giant bladder diverticulum in Ehlers-Danlos syndrome type I causing outflow obstruction.

Burrows NP, Monk BE, Harrison JB, Pope FM.

Clin Exp Dermatol. 1998 May;23(3):109-12. Review.

PMID:
9861737
47.

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.

Richards AJ, Martin S, Nicholls AC, Harrison JB, Pope FM, Burrows NP.

J Med Genet. 1998 Oct;35(10):846-8.

48.

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.

Burrows NP, Nicholls AC, Richards AJ, Luccarini C, Harrison JB, Yates JR, Pope FM.

Am J Hum Genet. 1998 Aug;63(2):390-8.

49.

The structural organisation of LAMA4, the gene encoding laminin alpha4.

Richards A, Luccarini C, Pope FM.

Eur J Biochem. 1997 Aug 15;248(1):15-23.

50.

Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes.

Burrows NP, Nicholls AC, Yates JR, Richards AJ, Pope FM.

Clin Exp Dermatol. 1997 Jul;22(4):174-6.

PMID:
9499606

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