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2. Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C. Koçak Eker H, Altunoglu U, Toksoy G, Kayserili H. Clin Dysmorphol; 2016 Oct; 25(4):192-4. PubMed ID: 27552067 [No Abstract] [Full Text] [Related]
3. Atrial septal defect type II and upper limb malformation in 40-year-old male as a manifestation of Holt-Oram syndrome. Szymczyk E, Wejner-Mik P, Lipiec P, Michalski B, Kasprzak JD. Cardiol J; 2019 Oct; 26(3):302-303. PubMed ID: 31246270 [No Abstract] [Full Text] [Related]
4. Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome. Miyao N, Hirono K, Hata Y, Yoshimura N, Ichida F. Pediatr Int; 2019 Jun; 61(6):607-609. PubMed ID: 31215120 [No Abstract] [Full Text] [Related]
5. A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis. Atik T, Dervisoglu H, Onay H, Ozkinay F, Cogulu O. J Trop Pediatr; 2014 Jun; 60(3):257-9. PubMed ID: 24408148 [Abstract] [Full Text] [Related]
6. Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis. Walencka Z, Jamsheer A, Surmiak P, Baumert M, Jezela-Stanek A, Witek A, Materna-Kiryluk A, Latos-Bieleńska A, Socha M, Sowińska-Seidler A. Ginekol Pol; 2016 Jun; 87(10):706-710. PubMed ID: 27958623 [Abstract] [Full Text] [Related]
10. Holt-Oram: when the key to a broken heart is in the hand. Naderi N, McCurdy MT, Reed RM. BMJ Case Rep; 2014 Apr 10; 2014():. PubMed ID: 24722718 [No Abstract] [Full Text] [Related]
11. Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus. Paladini D, Tiesi M, Buffi D, Tuo G, Marasini M. Ultrasound Obstet Gynecol; 2014 Apr 10; 43(4):475-6. PubMed ID: 24185902 [Abstract] [Full Text] [Related]
12. TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. Patel C, Silcock L, McMullan D, Brueton L, Cox H. Eur J Hum Genet; 2012 Aug 10; 20(8):863-9. PubMed ID: 22333898 [Abstract] [Full Text] [Related]
13. [Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier]. Murga-Eizagaechevarria N, Garcia-Barcina M, Sarasola Diez E. Rev Esp Cardiol; 2011 Dec 10; 64(12):1225-6. PubMed ID: 21752519 [No Abstract] [Full Text] [Related]
15. Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus. Tessier A, Callier P, LeMeur N, Frebourg T, Sabourin JC, Patrier S. Pediatr Dev Pathol; 2019 Oct 10; 22(2):146-151. PubMed ID: 30193563 [Abstract] [Full Text] [Related]
16. [The "heart-hand" syndrome in a 8-year-old-boy with short stature]. Petriczko E, Horodnicka-Józwa A, Prowans P, Biczysko-Mokosa A, Szmit-Domagalska J, Dawid G, Walczak M, Zajaczek S. Wiad Lek; 2011 Oct 10; 64(1):15-21. PubMed ID: 21812358 [Abstract] [Full Text] [Related]
17. Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray. Stipoljev F, Miric-Tesanic D, Hafner T, Barbalic M, Logara M, Lasan-Trcic R, Vicic A, Gjergja-Juraski R. Eur J Med Genet; 2017 Nov 10; 60(11):589-594. PubMed ID: 28807863 [Abstract] [Full Text] [Related]
18. Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW. Cardiol Young; 2015 Aug 10; 25(6):1093-8. PubMed ID: 25216260 [Abstract] [Full Text] [Related]
19. Possible Holt-Oram Syndrome: Missed Prenatal Diagnosis and Sub-Optimal Management in a Poor-Resourced Hospital. Osonuga A, Arhin JK, Okoye GC, Da’Costa A. Balkan Med J; 2019 May 10; 36(3):192-193. PubMed ID: 30873826 [No Abstract] [Full Text] [Related]
20. Tetralogy of Fallot with Holt-Oram syndrome: case report and review. Tidake A, Gangurde P, Shaikh Z, Mahajan A. Clin Res Cardiol; 2015 Sep 10; 104(9):790-3. PubMed ID: 25903110 [No Abstract] [Full Text] [Related] Page: [Next] [New Search]