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Items: 1 to 20 of 88

1.

An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.

Bader HL, Ruhe AL, Wang LW, Wong AK, Walsh KF, Packer RA, Mitelman J, Robertson KR, O'Brien DP, Broman KW, Shelton GD, Apte SS, Neff MW.

PLoS One. 2010 Sep 17;5(9). pii: e12817. doi: 10.1371/journal.pone.0012817.

2.

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.

Hubmacher D, Wang LW, Mecham RP, Reinhardt DP, Apte SS.

Dis Model Mech. 2015 May;8(5):487-99. doi: 10.1242/dmm.017046. Epub 2015 Mar 11.

3.

Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.

Packer RA, Logan MA, Guo LT, Apte SS, Bader H, O'Brien DP, Johnson G, Shelton GD.

J Vet Intern Med. 2017 Mar;31(2):532-538. doi: 10.1111/jvim.14654. Epub 2017 Feb 3.

4.

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Ben-Salem S, Hertecant J, Al-Shamsi AM, Ali BR, Al-Gazali L.

Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):764-9. doi: 10.1002/bdra.23170. Epub 2013 Sep 6.

PMID:
24014090
5.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.

Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V.

J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17.

6.

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V.

Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.

7.

From tall to short: the role of TGFβ signaling in growth and its disorders.

Le Goff C, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Review.

PMID:
22791552
8.

Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.

Vernau KM, Runstadler JA, Brown EA, Cameron JM, Huson HJ, Higgins RJ, Ackerley C, Sturges BK, Dickinson PJ, Puschner B, Giulivi C, Shelton GD, Robinson BH, DiMauro S, Bollen AW, Bannasch DL.

PLoS One. 2013;8(3):e57195. doi: 10.1371/journal.pone.0057195. Epub 2013 Mar 4.

9.

TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.

Hahn K, Rohdin C, Jagannathan V, Wohlsein P, Baumgärtner W, Seehusen F, Spitzbarth I, Grandon R, Drögemüller C, Jäderlund KH.

PLoS One. 2015 Nov 10;10(11):e0141824. doi: 10.1371/journal.pone.0141824. eCollection 2015.

10.

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V.

J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11.

PMID:
27068007
11.

A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.

Lingaas F, Comstock KE, Kirkness EF, Sørensen A, Aarskaug T, Hitte C, Nickerson ML, Moe L, Schmidt LS, Thomas R, Breen M, Galibert F, Zbar B, Ostrander EA.

Hum Mol Genet. 2003 Dec 1;12(23):3043-53. Epub 2003 Oct 7.

PMID:
14532326
12.

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.

Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre GD.

Genomics. 2006 Nov;88(5):551-63. Epub 2006 Aug 30.

13.

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.

Forman OP, De Risio L, Stewart J, Mellersh CS, Beltran E.

BMC Genet. 2012 Jul 10;13:55. doi: 10.1186/1471-2156-13-55.

14.

Novel mutations in geleophysic dysplasia type 1.

Porayette P, Fruitman D, Lauzon JL, Le Goff C, Cormier-Daire V, Sanders SP, Pinto-Rojas A, Perez-Atayde AR.

Pediatr Dev Pathol. 2014 May-Jun;17(3):209-16. doi: 10.2350/13-08-1370-CR.1. Epub 2013 Nov 19.

PMID:
24251637
15.

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA.

Hum Mol Genet. 2002 Aug 1;11(16):1823-33.

PMID:
12140185
16.

Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome.

Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB.

Hum Mol Genet. 2002 Dec 1;11(25):3237-48.

PMID:
12444108
17.

Fragmented coronoid process in the dog: a heritable disease.

Temwichitr J, Leegwater PA, Hazewinkel HA.

Vet J. 2010 Aug;185(2):123-9. doi: 10.1016/j.tvjl.2009.06.022. Epub 2009 Jul 28.

PMID:
19640749
18.

Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed.

Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, Mellersh CS.

PLoS Genet. 2012 Jan;8(1):e1002462. doi: 10.1371/journal.pgen.1002462. Epub 2012 Jan 12.

19.

An ADAMTS17 splice donor site mutation in dogs with primary lens luxation.

Farias FH, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P, O'Leary CA, Pettitt L, Forman OP, Boursnell M, McLaughlin B, Ahonen S, Lohi H, Hernandez-Merino E, Gould DJ, Sargan DR, Mellersh C.

Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4716-21. doi: 10.1167/iovs.09-5142. Epub 2010 Apr 7.

PMID:
20375329
20.

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.

Kukekova AV, Goldstein O, Johnson JL, Richardson MA, Pearce-Kelling SE, Swaroop A, Friedman JS, Aguirre GD, Acland GM.

Mamm Genome. 2009 Feb;20(2):109-23. doi: 10.1007/s00335-008-9163-4. Epub 2009 Jan 9.

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