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Results: 1 to 20 of 22

1.

Optimal management of complications associated with achondroplasia.

Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R.

Appl Clin Genet. 2014 Jun 24;7:117-25. doi: 10.2147/TACG.S51485. eCollection 2014. Review.

PMID:
25053890
[PubMed]
Free PMC Article
2.

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.

Lazarus S, McInerney-Leo AM, McKenzie FA, Baynam G, Broley S, Cavan BV, Munns CF, Pruijs JE, Sillence D, Terhal PA, Pryce K, Brown MA, Zankl A, Thomas G, Duncan EL.

BMC Musculoskelet Disord. 2014 Mar 27;15:107. doi: 10.1186/1471-2474-15-107.

PMID:
24674092
[PubMed - in process]
Free PMC Article
3.

Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.

Ekbote AV, Danda S, Zankl A, Mandal K, Maguire T, Ungerer K.

J Clin Res Pediatr Endocrinol. 2014;6(1):40-6. doi: 10.4274/Jcrpe.1166.

PMID:
24637309
[PubMed - in process]
Free PMC Article
4.

Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain.

Paul R, Groza T, Hunter J, Zankl A.

J Biomed Semantics. 2014 Feb 5;5(1):8. doi: 10.1186/2041-1480-5-8.

PMID:
24499729
[PubMed]
Free PMC Article
5.

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K, Duncan EL, Mitchison HM.

Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.

PMID:
24183451
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

PMID:
24140113
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M; UK10K Consortium, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C.

Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1.

PMID:
23910462
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Decomposing phenotype descriptions for the human skeletal phenome.

Groza T, Hunter J, Zankl A.

Biomed Inform Insights. 2013;6:1-14. doi: 10.4137/BII.S10729. Epub 2013 Feb 4.

PMID:
23440304
[PubMed]
Free PMC Article
9.

Mining skeletal phenotype descriptions from scientific literature.

Groza T, Hunter J, Zankl A.

PLoS One. 2013;8(2):e55656. doi: 10.1371/journal.pone.0055656. Epub 2013 Feb 8.

PMID:
23409017
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.

Oetting WS, Robinson PN, Greenblatt MS, Cotton RG, Beck T, Carey JC, Doelken SC, Girdea M, Groza T, Hamilton CM, Hamosh A, Kerner B, MacArthur JA, Maglott DR, Mons B, Rehm HL, Schofield PN, Searle BA, Smedley D, Smith CL, Bernstein IT, Zankl A, Zhao EY.

Hum Mutat. 2013 Apr;34(4):661-6. doi: 10.1002/humu.22293.

PMID:
23401191
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain.

Paul R, Groza T, Hunter J, Zankl A.

PLoS One. 2012;7(11):e50614. doi: 10.1371/journal.pone.0050614. Epub 2012 Nov 30.

PMID:
23226331
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods.

Groza T, Hunter J, Zankl A.

BMC Bioinformatics. 2012 Oct 15;13:265. doi: 10.1186/1471-2105-13-265.

PMID:
23061930
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.

Groza T, Hunter J, Zankl A.

BMC Bioinformatics. 2012 Mar 26;13:50. doi: 10.1186/1471-2105-13-50.

PMID:
22449239
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA.

Am J Hum Genet. 2012 Mar 9;90(3):494-501. doi: 10.1016/j.ajhg.2012.01.003. Epub 2012 Mar 1. Erratum in: Am J Hum Genet. 2014 Apr 3;94(4):643.

PMID:
22387013
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD.

Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.

PMID:
21922596
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R.

Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37.

PMID:
21658220
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

Glazov EA, Zankl A, Donskoi M, Kenna TJ, Thomas GP, Clark GR, Duncan EL, Brown MA.

PLoS Genet. 2011 Mar;7(3):e1002027. doi: 10.1371/journal.pgen.1002027. Epub 2011 Mar 24.

PMID:
21455487
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.

Fukada T, Civic N, Furuichi T, Shimoda S, Mishima K, Higashiyama H, Idaira Y, Asada Y, Kitamura H, Yamasaki S, Hojyo S, Nakayama M, Ohara O, Koseki H, Dos Santos HG, Bonafe L, Ha-Vinh R, Zankl A, Unger S, Kraenzlin ME, Beckmann JS, Saito I, Rivolta C, Ikegawa S, Superti-Furga A, Hirano T.

PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5. Erratum in: PLoS One. 2008;3(11). doi: 10.1371/annotation/a6c35a12-e8eb-43a0-9d00-5078fa6da1bb.

PMID:
18985159
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ.

Am J Hum Genet. 2007 Oct;81(4):713-25. Epub 2007 Sep 4.

PMID:
17846997
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD.

Eur J Hum Genet. 2007 Feb;15(2):150-4. Epub 2006 Nov 29.

PMID:
17133256
[PubMed - indexed for MEDLINE]
Free PMC Article

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