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Items: 1 to 20 of 128

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.

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
3.

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

Kosho T.

Pediatr Int. 2016 Feb;58(2):88-99. doi: 10.1111/ped.12878. Review.

PMID:
26646600
4.

A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.

Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N.

Am J Med Genet A. 2010 Jun;152A(6):1333-46. doi: 10.1002/ajmg.a.33498.

PMID:
20503305
5.

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L.

Am J Med Genet A. 2012 Jun;158A(6):1344-54. doi: 10.1002/ajmg.a.35339. Epub 2012 May 11.

PMID:
22581468
6.

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
7.

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F.

Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Review.

PMID:
25703627
8.

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.

Winters KA, Jiang Z, Xu W, Li S, Ammous Z, Jayakar P, Wierenga KJ.

Am J Med Genet A. 2012 Nov;158A(11):2935-40. doi: 10.1002/ajmg.a.35613. Epub 2012 Sep 14.

PMID:
22987394
9.

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B.

Am J Med Genet A. 2016 Jan;170A(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.

10.

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.

11.
12.

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.

Mizumoto S, Kosho T, Hatamochi A, Honda T, Yamaguchi T, Okamoto N, Miyake N, Yamada S, Sugahara K.

Clin Biochem. 2017 Feb 24. pii: S0009-9120(16)30553-7. doi: 10.1016/j.clinbiochem.2017.02.018. [Epub ahead of print]

PMID:
28238810
13.

Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.

Miyake N, Kosho T, Matsumoto N.

Adv Exp Med Biol. 2014;802:145-59. doi: 10.1007/978-94-007-7893-1_10. Review.

PMID:
24443026
14.

Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".

Janecke AR, Baenziger JU, Müller T, Dündar M.

Hum Mutat. 2011 Apr;32(4):484-5. doi: 10.1002/humu.21440. No abstract available.

PMID:
21309034
15.

A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thumb-Clubfoot Syndrome" or "Ehlers-Danlos syndrome"?

Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Yamada S, Sugahara K, Matsumoto N.

Hum Mutat. 2011 Dec;32(12):1507-9. doi: 10.1002/humu.21586. Epub 2011 Sep 30. No abstract available.

PMID:
21964831
16.

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.

Walker LC, Overstreet MA, Willing MC, Marini JC, Cabral WA, Pals G, Bristow J, Atsawasuwan P, Yamauchi M, Yeowell HN.

Am J Med Genet A. 2004 Dec 1;131(2):155-62.

PMID:
15523625
17.

The Ehlers-Danlos syndromes.

Yeowell HN, Pinnell SR.

Semin Dermatol. 1993 Sep;12(3):229-40. Review.

PMID:
8217561
18.

[Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects].

Germain D.

Ann Dermatol Venereol. 1995;122(4):187-204. Review. French.

PMID:
8526413
19.
20.

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.

N Engl J Med. 2006 Aug 24;355(8):788-98.

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