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Items: 1 to 20 of 120

1.

Congenital contractural arachnodactyly (Beals syndrome).

Tunçbilek E, Alanay Y.

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

2.

Congenital contractural arachnodactyly (Beals syndrome).

Viljoen D.

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

3.

Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report.

Meena JP, Gupta A, Mishra D, Juneja M.

J Pediatr Orthop B. 2015 May;24(3):226-9. doi: 10.1097/BPB.0000000000000121.

PMID:
25493702
4.

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
5.

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
6.

Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis.

Inbar-Feigenberg M, Meirowitz N, Nanda D, Toi A, Okun N, Chitayat D.

Ultrasound Obstet Gynecol. 2014 Oct;44(4):486-90. doi: 10.1002/uog.13350. Epub 2014 Sep 8.

7.

[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
8.

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

Belleh S, Zhou G, Wang M, Der Kaloustian VM, Pagon RA, Godfrey M.

Am J Med Genet. 2000 May 1;92(1):7-12.

PMID:
10797416
9.

Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy.

Yagi H, Hatano M, Takeda N, Harada S, Suzuki Y, Taniguchi Y, Shintani Y, Morita H, Kanamori N, Aoyama T, Watanabe M, Manabe I, Akazawa H, Kinugawa K, Komuro I.

Intern Med. 2015;54(10):1237-41. doi: 10.2169/internalmedicine.54.4280. Epub 2015 May 15.

10.

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.

11.

Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.

Takeda N, Morita H, Fujita D, Inuzuka R, Taniguchi Y, Imai Y, Hirata Y, Komuro I.

Am J Med Genet A. 2015 Oct;167A(10):2382-7. doi: 10.1002/ajmg.a.37162. Epub 2015 May 14.

PMID:
25975422
12.

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
13.

[The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate].

Philip N, Garcia-Meric P, Wernert F.

Pediatrie. 1988;43(7):609-12. French.

PMID:
3200664
14.

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
15.

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
17.

Prenatal diagnosis in congenital contractural arachnodactyly.

Belleh S, Spooner L, Allanson J, Godfrey M.

Genet Test. 1997-1998;1(4):293-6.

PMID:
10464661
18.

Beals-Hecht syndrome.

Jones JL, Lane JE, Logan JJ, Vanegas ME.

South Med J. 2002 Jul;95(7):753-5. Review.

PMID:
12144083
19.

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

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