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Items: 1 to 20 of 46

1.

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.

Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T.

Am J Med Genet A. 2011 Aug;155A(8):1949-58. doi: 10.1002/ajmg.a.34115. Epub 2011 Jul 8. Review.

PMID:
21744491
2.

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.

Rohrbach M, Vandersteen A, Yiş U, Serdaroglu G, Ataman E, Chopra M, Garcia S, Jones K, Kariminejad A, Kraenzlin M, Marcelis C, Baumgartner M, Giunta C.

Orphanet J Rare Dis. 2011 Jun 23;6:46. doi: 10.1186/1750-1172-6-46.

3.

The collagen VI-related myopathies: muscle meets its matrix.

Bönnemann CG.

Nat Rev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81. Review.

PMID:
21691338
4.

Peptide bond cis/trans isomerases: a biocatalysis perspective of conformational dynamics in proteins.

Schiene-Fischer C, Aumüller T, Fischer G.

Top Curr Chem. 2013;328:35-67. doi: 10.1007/128_2011_151.

PMID:
21598101
5.

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.

Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Lê T, Van Laer L, De Paepe A.

Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355.

PMID:
20842734
6.

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B.

J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250.

7.

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

Shaheen R, Al-Owain M, Sakati N, Alzayed ZS, Alkuraya FS.

Am J Hum Genet. 2010 Aug 13;87(2):306-7; author reply 308. doi: 10.1016/j.ajhg.2010.05.020. No abstract available. Erratum in: Am J Hum Genet. 2010 Oct 8;87(4):571.

8.

Assembly of fibronectin extracellular matrix.

Singh P, Carraher C, Schwarzbauer JE.

Annu Rev Cell Dev Biol. 2010;26:397-419. doi: 10.1146/annurev-cellbio-100109-104020. Review.

9.

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N.

Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300.

PMID:
20533528
10.

Neuromuscular imaging in inherited muscle diseases.

Wattjes MP, Kley RA, Fischer D.

Eur Radiol. 2010 Oct;20(10):2447-60. doi: 10.1007/s00330-010-1799-2. Epub 2010 Apr 27. Review.

11.

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D.

Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Erratum in: Am J Hum Genet. 2010 Oct 8;87(4):572-3.

12.

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR.

Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010.

13.

Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome.

Voermans NC, Bönnemann CG, Lammens M, van Engelen BG, Hamel BC.

Am J Med Genet A. 2009 Oct;149A(10):2311-6. doi: 10.1002/ajmg.a.32997. No abstract available.

PMID:
19760654
14.

Natural history of Ullrich congenital muscular dystrophy.

Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F.

Neurology. 2009 Jul 7;73(1):25-31. doi: 10.1212/WNL.0b013e3181aae851.

PMID:
19564581
15.

Neuromuscular involvement in various types of Ehlers-Danlos syndrome.

Voermans NC, van Alfen N, Pillen S, Lammens M, Schalkwijk J, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG.

Ann Neurol. 2009 Jun;65(6):687-97. doi: 10.1002/ana.21643.

PMID:
19557868
16.

Clinical and molecular overlap between myopathies and inherited connective tissue diseases.

Voermans NC, Bönnemann CG, Huijing PA, Hamel BC, van Kuppevelt TH, de Haan A, Schalkwijk J, van Engelen BG, Jenniskens GJ.

Neuromuscul Disord. 2008 Nov;18(11):843-56. doi: 10.1016/j.nmd.2008.05.017. Epub 2008 Sep 24. Review.

PMID:
18818079
17.

The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens.

Ishikawa Y, Vranka J, Wirz J, Nagata K, Bächinger HP.

J Biol Chem. 2008 Nov 14;283(46):31584-90. doi: 10.1074/jbc.M802535200. Epub 2008 Sep 10.

18.

Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases.

Kraenzlin ME, Kraenzlin CA, Meier C, Giunta C, Steinmann B.

Clin Chem. 2008 Sep;54(9):1546-53. doi: 10.1373/clinchem.2008.105262. Epub 2008 Jul 24.

19.

FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts.

Zoppi N, Barlati S, Colombi M.

Biochim Biophys Acta. 2008 Jun;1783(6):1177-88. doi: 10.1016/j.bbamcr.2008.03.003. Epub 2008 Mar 20.

20.

Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

Yiş U, Dirik E, Chambaz C, Steinmann B, Giunta C.

Neuromuscul Disord. 2008 Mar;18(3):210-4. Epub 2007 Dec 26.

PMID:
18155911
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