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Items: 1 to 20 of 88

1.

SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot.

Vanzo RJ, Martin MM, Sdano MR, Teta K, Aggarwal V, South ST.

Am J Med Genet A. 2014 Feb;164A(2):554-6. doi: 10.1002/ajmg.a.36242. Epub 2013 Dec 5. No abstract available.

PMID:
24311514
2.

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.

Rendu J, Satre V, Testard H, Devillard F, Vieville G, Fauré J, Amblard F, Jouk PS, Coutton C.

Am J Med Genet A. 2014 Aug;164A(8):2133-5. doi: 10.1002/ajmg.a.36566. Epub 2014 Apr 8. No abstract available.

PMID:
24715298
3.

Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot.

Vanzo RJ, Martin MM, Sdano MR, Teta K, South ST.

Am J Med Genet A. 2014 Aug;164A(8):2136-7. doi: 10.1002/ajmg.a.36572. Epub 2014 Apr 14. No abstract available.

PMID:
24733602
4.

Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22.

Richards EG, Zaveri HP, Wolf VL, Kang SH, Scott DA.

Am J Med Genet A. 2011 Jul;155A(7):1729-34. doi: 10.1002/ajmg.a.34041. Epub 2011 Jun 10.

PMID:
21671376
5.

Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion.

Momma K, Kondo C, Matsuoka R.

J Am Coll Cardiol. 1996 Jan;27(1):198-202.

6.

Tetralogy of Fallot with aortic valvular stenosis and deletion 22q11.

Marino B, Mileto F, Digilio MC.

Ann Thorac Surg. 2003 Jun;75(6):2010-1; author reply 2011. No abstract available.

PMID:
12822669
7.

[Microdeletion of 22q11 and conotruncal cardiopathies: contribution of prenatal diagnosis].

Verspyck E, Joly G, Rossi A, David N, Blaysat G, Henocq A, Moirot H, Labadie G, Marpeau L.

J Gynecol Obstet Biol Reprod (Paris). 1999 Oct;28(6):534-7. French.

8.

Etiologic relations among categories of congenital heart malformations.

Fraser FC, Hunter AD.

Am J Cardiol. 1975 Nov;36(6):793-6.

PMID:
1199935
9.

Anatomic patterns of conotruncal defects associated with deletion 22q11.

Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B.

Genet Med. 2001 Jan-Feb;3(1):45-8.

PMID:
11339377
10.

[Cardiovascular malformations associated with tetralogy of Fallot. Apropos of a series of 250 cases of tetralogy of Fallot].

Worms AM, Ravault MC, Dambrine P, Marçon F, Pernot C.

Arch Mal Coeur Vaiss. 1983 May;76(5):591-600. French.

PMID:
6411033
11.

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.

Wozniak A, Wolnik-Brzozowska D, Wisniewska M, Glazar R, Materna-Kiryluk A, Moszura T, Badura-Stronka M, Skolozdrzy J, Krawczynski MR, Zeyland J, Bobkowski W, Slomski R, Latos-Bielenska A, Siwinska A.

BMC Pediatr. 2010 Dec 6;10:88. doi: 10.1186/1471-2431-10-88.

12.

[22q11 deletion in conotruncal anomalies].

Kádár K.

Orv Hetil. 2005 Feb 20;146(8):363-6. Hungarian.

PMID:
15803887
13.

[Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease].

Salazar M, Villalba G, Mateus H, Villegas V, Fonseca D, Núñez F, Caicedo V, Pachón S, Bernal JE.

Invest Clin. 2011 Dec;52(4):334-43. Spanish.

PMID:
22523843
14.

Congenital heart disease in children.

Blumenthal S, Jesse MJ.

Med Ann Dist Columbia. 1971 Dec;40(12):749-50. No abstract available.

PMID:
5289820
15.

[Chromosome 22 (22q.11.2) deletion. Etiology of conotruncal heart abnormalities].

Buendía Hernández A, Calderón-Colmenero J, Aizpuru E, Attie CL, Zabal C, Patiño E, Miranda I, Juanico A, Attie F.

Arch Inst Cardiol Mex. 2000 Mar-Apr;70(2):148-53. Spanish.

PMID:
10932799
16.

[Suspected hypoplasia of the left ventricle in a case of tetralogy of Fallot].

Horiuchi T, Mouri H, Kagawa Y, Ishizawa E, Saji K.

Kyobu Geka. 1977;30(9):767-8. Japanese. No abstract available.

PMID:
916437
17.

Dermatoglyphics in congenital heart disease.

Alter M, Schulenberg R.

Circulation. 1970 Jan;41(1):49-54. No abstract available.

PMID:
5420632
18.

[Congenital heart disease and down syndrome (author's transl)].

Cyhlar MM, Wimmer M.

Padiatr Padol. 1976;11(1):254-60. German.

PMID:
129755
19.

[Familial incidence of congenital heart defects].

Hilgenberg F, Diekmann L, Reploh HD, Kojima N, Bender F.

Munch Med Wochenschr. 1967 Jan 13;109(2):86-90. German. No abstract available.

PMID:
6071812
20.

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.

Weiss K, Applegate C, Wang T, Batista DA.

Am J Med Genet A. 2015 Nov;167A(11):2702-6. doi: 10.1002/ajmg.a.37210. Epub 2015 Jul 2.

PMID:
26139517

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