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Items: 20

1.

Congenital contractural arachnodactyly (Beals syndrome).

Tunçbilek E, Alanay Y.

Orphanet J Rare Dis. 2006 Jun 1;1:20. Review.

2.

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, Galán F, Kingston H, Van der Aa N, Salcedo I, Swinkels ME, Wallgren-Pettersson C, Gabrielli O, De Backer J, Coucke PJ, De Paepe AM.

Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. Review.

PMID:
19006240
3.

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

Putnam EA, Zhang H, Ramirez F, Milewicz DM.

Nat Genet. 1995 Dec;11(4):456-8.

PMID:
7493032
4.

Congenital Contractural Arachnodactyly.

Godfrey M.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Jan 23 [updated 2012 Feb 23].

5.

Congenital contractural arachnodactyly (Beals syndrome).

Viljoen D.

J Med Genet. 1994 Aug;31(8):640-3. Review.

6.

Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.

Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Adès LC, Milewicz DM.

Hum Mutat. 2002 Jan;19(1):39-48.

PMID:
11754102
7.

Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly.

Paulson ML, Olivier KN, Holland SM.

Int J Tuberc Lung Dis. 2012 Apr;16(4):561-3. doi: 10.5588/ijtld.11.0301.

8.

A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly.

Chen Y, Lei YP, Zheng HX, Wang W, Cheng HB, Zhang J, Wang HY, Jin L, Li H.

Genet Test Mol Biomarkers. 2009 Jun;13(3):295-300. doi: 10.1089/gtmb.2008.0132.

PMID:
19473076
9.

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study.

Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child AH, Godfrey M, Devereux RB, Hewett D, Steinmann B, et al.

N Engl J Med. 1992 Apr 2;326(14):905-9.

10.

Congenital contractural arachnodactyly. Report of four additional families and review of literature.

Ramos Arroyo MA, Weaver DD, Beals RK.

Clin Genet. 1985 Jun;27(6):570-81.

PMID:
4017278
11.

FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.

Nishimura A, Sakai H, Ikegawa S, Kitoh H, Haga N, Ishikiriyama S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N.

Am J Med Genet A. 2007 Apr 1;143A(7):694-8.

PMID:
17345643
12.

[Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases].

Wang XS, Zhang JG, Qiu GX, Weng XS, Gao ZX, Lu WC, Zhao LJ.

Zhonghua Yi Xue Za Zhi. 2008 Mar 4;88(9):615-8. Chinese.

PMID:
18646717
13.

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.

Courtens W, Tjalma W, Messiaen L, Vamos E, Martin JJ, Van Bogaert E, Keersmaekers G, Meulyzer P, Wauters J.

Am J Med Genet. 1998 May 18;77(3):188-97.

PMID:
9605585
14.

Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome).

Finsterer J, Stöllberger C.

J Nippon Med Sch. 2007 Apr;74(2):185-6; author reply 186. No abstract available.

PMID:
17520759
15.

Congenital contractural arachnodactyly (Beals syndrome).

Su PH, Hou JW, Hwu WL, Wu MH, Wang JK, Wang TR.

Acta Paediatr Taiwan. 2000 Mar-Apr;41(2):59-62.

PMID:
10927940
16.

"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.

Hecht F, Beals RK.

Pediatrics. 1972 Apr;49(4):574-9. No abstract available.

PMID:
4552107
17.

Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly.

Kölble N, Wisser J, Babcock D, Maslen C, Huch R, Steinmann B.

Ultrasound Obstet Gynecol. 2002 Oct;20(4):395-9.

18.

Congenital contractural arachnodactyly. A heritable disorder of connective tissue.

Beals RK, Hecht F.

J Bone Joint Surg Am. 1971 Jul;53(5):987-93. No abstract available.

PMID:
5557609
19.

Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome).

Matsumoto T, Watanabe A, Migita M, Gocho Y, Hayakawa J, Ogawa S, Shimada T, Fukunaga Y.

J Nippon Med Sch. 2006 Oct;73(5):285-8.

20.

FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly.

Gupta PA, Wallis DD, Chin TO, Northrup H, Tran-Fadulu VT, Towbin JA, Milewicz DM.

J Med Genet. 2004 May;41(5):e56. No abstract available.

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