Pope FM - Search Results

1

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. Rahman N, et al. Among authors: pope fm. Am J Hum Genet. 2002 Oct;71(4):975-80. doi: 10.1086/342776. Epub 2002 Sep 4. Am J Hum Genet. 2002. PMID: 12214284 Free PMC article.

2

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. Rahman N, et al. Among authors: pope fm. Am J Hum Genet. 2003 Jul;73(1):198-204. doi: 10.1086/376416. Epub 2003 May 29. Am J Hum Genet. 2003. PMID: 12776252 Free PMC article.

3

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. Hanks S, et al. Among authors: pope fm. Am J Hum Genet. 2003 Oct;73(4):791-800. doi: 10.1086/378418. Epub 2003 Aug 21. Am J Hum Genet. 2003. PMID: 14508707 Free PMC article.

4

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. Kapferer-Seebacher I, et al. Among authors: pope fm. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745832 Free PMC article.

5

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. Burrows NP, et al. Among authors: pope fm. Am J Hum Genet. 1998 Aug;63(2):390-8. doi: 10.1086/301948. Am J Hum Genet. 1998. PMID: 9683580 Free PMC article.

6

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. Richards AJ, et al. Among authors: pope fm. J Med Genet. 2002 Sep;39(9):661-5. doi: 10.1136/jmg.39.9.661. J Med Genet. 2002. PMID: 12205109 Free PMC article.

7

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele.

Nicholls AC, Oliver J, Renouf DV, Heath DA, Pope FM. Nicholls AC, et al. Among authors: pope fm. Hum Genet. 1992 Mar;88(6):627-33. doi: 10.1007/BF02265286. Hum Genet. 1992. PMID: 1551666

8

Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.

Dunnill MG, Richards AJ, Milana G, Mollica F, Atherton D, Winship I, Farrall M, al-Imara L, Eady RA, Pope FM. Dunnill MG, et al. Among authors: pope fm. J Med Genet. 1994 Oct;31(10):745-8. doi: 10.1136/jmg.31.10.745. J Med Genet. 1994. PMID: 7837248 Free PMC article.

9

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP. Richards AJ, et al. Among authors: pope fm. Hum Mol Genet. 1996 Sep;5(9):1339-43. doi: 10.1093/hmg/5.9.1339. Hum Mol Genet. 1996. PMID: 8872475

10

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.

Nicholls AC, De Paepe A, Narcisi P, Dalgleish R, De Keyser F, Matton M, Pope FM. Nicholls AC, et al. Among authors: pope fm. Hum Genet. 1988 Mar;78(3):276-81. doi: 10.1007/BF00291676. Hum Genet. 1988. PMID: 3162228

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