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Items: 1 to 20 of 71

1.

Pulmonary disease is a component of distal arthrogryposis type 5.

Williams MS, Elliott CG, Bamshad MJ.

Am J Med Genet A. 2007 Apr 1;143A(7):752-6.

PMID:
17345626
2.

Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5.

Castori M, Rinaldi R, Barboni L, Tanzilli P, Bamshad M, Grammatico P.

Am J Med Genet A. 2009 Mar;149A(3):482-6. doi: 10.1002/ajmg.a.32668.

PMID:
19213027
3.

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

Okubo M, Fujita A, Saito Y, Komaki H, Ishiyama A, Takeshita E, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Miyake N, Matsumoto N, Sasaki M.

Am J Med Genet A. 2015 May;167A(5):1100-6. doi: 10.1002/ajmg.a.36881. Epub 2015 Feb 25.

PMID:
25712306
4.

Distal arthrogryposis type II: a family with varying congenital abnormalities.

Reiss JA, Sheffield LJ.

Am J Med Genet. 1986 Jun;24(2):255-67.

PMID:
3717209
5.

Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia.

Beals RK, Weleber RG.

Am J Med Genet A. 2004 Nov 15;131(1):67-70.

PMID:
15389706
6.

The distal arthrogryposes: delineation of new entities--review and nosologic discussion.

Hall JG, Reed SD, Greene G.

Am J Med Genet. 1982 Feb;11(2):185-239. Review.

PMID:
7039311
7.

Extending the spectrum of distal arthrogryposis.

Gripp KW, Scott CI Jr, Brockett BC, Nicholson L, Mackenzie WG.

Am J Med Genet. 1996 Nov 11;65(4):286-90.

PMID:
8923937
8.

Distal arthrogryposis: clinical and genetic findings.

Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M.

Acta Paediatr. 2012 Aug;101(8):877-87. doi: 10.1111/j.1651-2227.2012.02708.x. Epub 2012 May 24.

PMID:
22519952
9.

A new distal arthrogryposis syndrome characterized by plantar flexion contractures.

Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M.

Am J Med Genet A. 2006 Dec 15;140(24):2797-801.

10.

Distal arthrogryposis type II D in three generations of a Brazilian family.

Pagnan NA, Gollop TR.

Am J Med Genet. 1987 Mar;26(3):613-9.

PMID:
3565478
11.

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.

Schrander-Stumpel CT, Höweler CJ, Reekers AD, De Smet NM, Hall JG, Fryns JP.

J Med Genet. 1993 Jan;30(1):78-80. Review.

12.

Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.

Ioan DM, Belengeanu V, Maximilian C, Fryns JP.

Clin Genet. 1993 Jun;43(6):300-2.

PMID:
8370149
13.

[Arthrogryposis multiplex congenita--a rare congenital stiff joints syndrome].

Velisavljev-Filipović G.

Med Pregl. 2006 Jul-Aug;59(7-8):375-9. Serbian.

PMID:
17140040
14.
15.

Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case.

Friedman BD, Heidenreich RA.

Am J Med Genet. 1995 Aug 28;58(2):125-7.

PMID:
8533802
16.
17.

Dominant distal arthrogryposis in a Maori family with marked variability of expression.

Klemp P, Hall JG.

Am J Med Genet. 1995 Feb 13;55(4):414-9.

PMID:
7762579
18.

Pulmonary function following completion of Minimally Invasive Repair for Pectus Excavatum (MIRPE).

Kubiak R, Habelt S, Hammer J, Häcker FM, Mayr J, Bielek J.

Eur J Pediatr Surg. 2007 Aug;17(4):255-60.

PMID:
17806022
19.

Family study of the inheritance of pectus excavatum.

Creswick HA, Stacey MW, Kelly RE Jr, Gustin T, Nuss D, Harvey H, Goretsky MJ, Vasser E, Welch JC, Mitchell K, Proud VK.

J Pediatr Surg. 2006 Oct;41(10):1699-703.

PMID:
17011272
20.

Lung function in patients with prior poliomyelitis.

Borg K, Kaijser L.

Clin Physiol. 1990 Mar;10(2):201-12.

PMID:
2318029

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