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Items: 1 to 20 of 29

1.

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
2.

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
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.
5.

An additional case of pachygyria, joint contractures and facial abnormalities.

Levin ML, Lupski JR, Carpenter RJ Jr, Gerson LP, Greenberg F.

Clin Dysmorphol. 1993 Oct;2(4):365-8. Review.

PMID:
8305968
6.

Coffin-Lowry syndrome: clinical and molecular features.

Hanauer A, Young ID.

J Med Genet. 2002 Oct;39(10):705-13. Review.

7.

[Type IV Ehlers-Danlos syndrome associated with mitral valve prolapse: a case report].

Watanabe S, Ishimitsu T, Inoue K, Tomizawa T, Noguchi Y, Sugishita Y, Ito I.

J Cardiol Suppl. 1988;18:97-105, discussion 106. Review. Japanese.

PMID:
3076899
8.

Sheldon-Hall syndrome.

Toydemir RM, Bamshad MJ.

Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Review.

9.

The Ehlers-Danlos syndromes.

Yeowell HN, Pinnell SR.

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

PMID:
8217561
10.

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B.

Am J Med Genet A. 2005 Mar 1;133A(2):158-64. Review.

PMID:
15666309
11.

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.

Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B.

Am J Med Genet A. 2004 Jan 1;124A(1):28-34. Review.

PMID:
14679583
12.

Heritable disorders of connective tissue: Ehlers-Danlos syndrome.

Hollister DW.

Pediatr Clin North Am. 1978 Aug;25(3):575-91. Review.

PMID:
358109
13.

New cases of Bohring-Opitz syndrome, update, and critical review of the literature.

Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P.

Am J Med Genet A. 2006 Jun 15;140(12):1257-63. Review.

PMID:
16691589
14.

Apparent Ruvalcaba syndrome with genitourinary abnormalities.

Bialer MG, Wilson WG, Kelly TE.

Am J Med Genet. 1989 Jul;33(3):314-7. Review.

PMID:
2679089
15.

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

Leonardi ML, Pai GS, Wilkes B, Lebel RR.

Am J Med Genet. 2001 Aug 15;102(3):237-42. Review.

PMID:
11484200
16.

The clinical presentation of Ehlers-Danlos syndrome.

Lawrence EJ.

Adv Neonatal Care. 2005 Dec;5(6):301-14. Review.

PMID:
16338669
17.
18.

Kabuki make-up syndrome: a review.

Matsumoto N, Niikawa N.

Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):57-65. Review.

PMID:
12561059
19.

[Spontaneous colonic perforations revealing Ehlers-Danlos syndrome type IV].

Henry C, Geiss S, Wodey E, Pennerath A, Zabot MT, Peyrol S, Plauchu H.

Arch Pediatr. 1995 Nov;2(11):1067-72. Review. French.

PMID:
8547975
20.

Molecular genetic and clinical review of Ehlers-Danlos Type VIIA: implications for management by the plastic surgeon in a multidisciplinary setting.

Whitaker IS, Rozen WM, Cairns SA, Howes J, Pope FM, Hamish Laing J.

J Plast Reconstr Aesthet Surg. 2009 May;62(5):589-94. doi: 10.1016/j.bjps.2008.11.119. Epub 2009 Feb 23. Review.

PMID:
19233756
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