Handford PA - Search Results

1

Familial spontaneous pneumothorax and FBN1 mutations.

Cardy CM, Maskell NA, Handford PA, Arnold AG, Davies RJ, Morrison PJ, Thornley PE. Cardy CM, et al. Among authors: handford pa. Am J Respir Crit Care Med. 2004 Jun 1;169(11):1260-2. doi: 10.1164/ajrccm.169.11.967. Am J Respir Crit Care Med. 2004. PMID: 15161620 No abstract available.

2

Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains.

Cardy CM, Handford PA. Cardy CM, et al. Among authors: handford pa. J Mol Biol. 1998 Mar 13;276(5):855-60. doi: 10.1006/jmbi.1997.1593. J Mol Biol. 1998. PMID: 9566191

3

Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1.

Knott V, Downing AK, Cardy CM, Handford P. Knott V, et al. J Mol Biol. 1996 Jan 12;255(1):22-7. doi: 10.1006/jmbi.1996.0003. J Mol Biol. 1996. PMID: 8568869

4

Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders.

Downing AK, Knott V, Werner JM, Cardy CM, Campbell ID, Handford PA. Downing AK, et al. Among authors: handford pa. Cell. 1996 May 17;85(4):597-605. doi: 10.1016/s0092-8674(00)81259-3. Cell. 1996. PMID: 8653794 Free article.

5

Molecular analysis of eight mutations in FBN1.

Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA. Halliday D, et al. Among authors: handford pa. Hum Genet. 1999 Dec;105(6):587-97. doi: 10.1007/s004399900190. Hum Genet. 1999. PMID: 10647894

6

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.

Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P. Halliday DJ, et al. Among authors: handford pa. J Med Genet. 2002 Aug;39(8):589-93. doi: 10.1136/jmg.39.8.589. J Med Genet. 2002. PMID: 12161601 Free PMC article. No abstract available.

7

Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1.

Wilson BT, Jensen SA, McAnulty CP, Brennan P, Handford PA. Wilson BT, et al. Among authors: handford pa. Am J Med Genet A. 2013 Aug;161A(8):2047-51. doi: 10.1002/ajmg.a.36011. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794388

8

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Le Goff C, et al. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.

9

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA. Hutchinson S, et al. Among authors: handford pa. Hum Mol Genet. 2003 Sep 15;12(18):2269-76. doi: 10.1093/hmg/ddg241. Epub 2003 Jul 22. Hum Mol Genet. 2003. PMID: 12915484

10

Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.

Hutchinson S, Wordsworth BP, Handford PA. Hutchinson S, et al. Among authors: handford pa. Hum Genet. 2001 Oct;109(4):416-20. doi: 10.1007/s004390100573. Hum Genet. 2001. PMID: 11702223

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

102 results

Search Page

Filters