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Items: 1 to 20 of 227

1.

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q.

Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD.

Nat Genet. 1994 Apr;6(4):401-4.

PMID:
8054982
2.

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J, et al.

Nat Genet. 1994 Apr;6(4):405-8.

PMID:
8054983
3.

Genetic heterogeneity of heart-hand syndromes.

Basson CT, Solomon SD, Weissman B, MacRae CA, Poznanski AK, Prieto F, Ruiz de la Fuente S, Pease WE, Levin SE, Holmes LB, et al.

Circulation. 1995 Mar 1;91(5):1326-9.

4.

[Gene localisation in 12q12 in Holt-Oram atrio-digital syndrome].

Bonnet D, Terrett J, Pequignot-Viegas E, Weissenbach J, Munnich A, Lyonnet S, Kachaner J.

Arch Mal Coeur Vaiss. 1995 May;88(5):661-6. Review. French.

PMID:
7646274
5.

A gene for ulnar-mammary syndrome maps to 12q23-q24.1.

Bamshad M, Krakowiak PA, Watkins WS, Root S, Carey JC, Jorde LB.

Hum Mol Genet. 1995 Oct;4(10):1973-7.

PMID:
8595424
6.

The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seidman CE.

N Engl J Med. 1994 Mar 31;330(13):885-91. Erratum in: N Engl J Med 1994 Jun 2;330(22):1627.

7.

Holt-Oram syndrome: a clinical genetic study.

Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID.

J Med Genet. 1996 Apr;33(4):300-7.

8.

Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.

Ruiz JC, Legius E, Cuppens H, Moens P, Marynen P, Cassiman JJ.

Clin Genet. 1994 Sep;46(3):257-9.

PMID:
7820941
9.

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

Terrett JA, Newbury-Ecob R, Smith NM, Li QY, Garrett C, Cox P, Bonnet D, Lyonnet S, Munnich A, Buckler AJ, Brook JD.

Am J Hum Genet. 1996 Dec;59(6):1337-41. Erratum in: Am J Hum Genet 1997 Mar;60(3):750.

10.

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE.

Nat Genet. 1997 Jan;15(1):30-5. Erratum in: Nat Genet 1997 Apr;15(4):411.

PMID:
8988165
11.

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD.

Nat Genet. 1997 Jan;15(1):21-9.

PMID:
8988164
12.

Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt-Oram syndrome.

Lehner R, Goharkhay N, Tringler B, Fasching C, Hengstschläger M.

J Reprod Med. 2003 Mar;48(3):153-9. Review.

PMID:
12698771
13.

Heart-hand syndrome II. A report of Tabatznik syndrome with new findings.

Silengo MC, Biagioli M, Guala A, Lopez-Bell G, Lala R.

Clin Genet. 1990 Aug;38(2):105-13.

PMID:
1976459
14.

Holt-Oram syndrome revisited. Two patients in the same family.

Frota Filho JD, Pereira W, Leiria TL, Vallenas M, Leães PE, Blacher C, Lúcio E, Lucchese FA.

Arq Bras Cardiol. 1999 Nov;73(5):429-34.

15.

Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.

Gruenauer-Kloevekorn C, Froster UG.

Ann Genet. 2003 Jan-Mar;46(1):19-23.

PMID:
12818525
16.

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.

Mori AD, Bruneau BG.

Curr Opin Cardiol. 2004 May;19(3):211-5. Review.

PMID:
15096952
17.

Holt-Oram syndrome in four half-siblings with unaffected parents: brief clinical report.

Braulke I, Herzog S, Thies U, Zoll B.

Clin Genet. 1991 Apr;39(4):241-4.

PMID:
2070544
18.

Holt-Oram syndrome associated with anomalies of the feet.

Garavelli L, De Brasi D, Verri R, Guareschi E, Cariola F, Melis D, Calcagno G, Salvatore F, Unger S, Sebastio G, Albertini G, Rivieri F, Soli F, Superti-Furga A, Gentile M.

Am J Med Genet A. 2008 May 1;146A(9):1185-9. doi: 10.1002/ajmg.a.32170.

PMID:
18351627
19.

Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.

Yang J, Hu D, Xia J, Yang Y, Ying B, Hu J, Zhou X.

Am J Med Genet. 2000 Jun 5;92(4):237-40.

PMID:
10842287
20.

[Statistical analysis of 47 cases with Holt-Qram syndrome].

Yang JF, Hu DX, Zhou XM.

Hunan Yi Ke Da Xue Xue Bao. 2001 Jun 28;26(3):244-6. Chinese.

PMID:
12536695

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