Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy.

Autor: Fahed AC; Division of Cardiology, Department of Medicine, Center of Genomic Medicine, Massachusetts General Hospital (A.C.F.), Harvard Medical School, Boston.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (A.C.F.)., Nemer G; Department of Biochemistry and Molecular Genetics, American University of Beirut, Lebanon (G.N., F.F.B., M.B., A.K., O.A.-H.).; College of Health and Life Sciences, Hamad Bin Khalifa University, Education City, Doha, Qatar (G.N.)., Bitar FF; Department of Biochemistry and Molecular Genetics, American University of Beirut, Lebanon (G.N., F.F.B., M.B., A.K., O.A.-H.).; Department of Pediatrics (F.F.B., M.T.A.), American University of Beirut Medical Center, Lebanon., Arnaout S; Cardiology Division (S.A., A.B.A., O.A.-H.), American University of Beirut Medical Center, Lebanon., Abchee AB; Cardiology Division (S.A., A.B.A., O.A.-H.), American University of Beirut Medical Center, Lebanon., Batrawi M; Department of Biochemistry and Molecular Genetics, American University of Beirut, Lebanon (G.N., F.F.B., M.B., A.K., O.A.-H.)., Khalil A; Department of Biochemistry and Molecular Genetics, American University of Beirut, Lebanon (G.N., F.F.B., M.B., A.K., O.A.-H.)., Abou Hassan OK; Department of Biochemistry and Molecular Genetics, American University of Beirut, Lebanon (G.N., F.F.B., M.B., A.K., O.A.-H.).; Cardiology Division (S.A., A.B.A., O.A.-H.), American University of Beirut Medical Center, Lebanon., DePalma SR; Department of Genetics (S.R.D., B.M., J.G.S., C.E.S.), Harvard Medical School, Boston., McDonough B; Department of Genetics (S.R.D., B.M., J.G.S., C.E.S.), Harvard Medical School, Boston., Arabi MT; Department of Pediatrics (F.F.B., M.T.A.), American University of Beirut Medical Center, Lebanon., Ware JS; National Heart and Lung Institute, Imperial College London, Royal Brompton Hospital (J.S.W.).; Medical Research College London Institute of Medical Sciences, United Kingdom (J.S.W.)., Seidman JG; Department of Genetics (S.R.D., B.M., J.G.S., C.E.S.), Harvard Medical School, Boston., Seidman CE; Department of Genetics (S.R.D., B.M., J.G.S., C.E.S.), Harvard Medical School, Boston.; Division of Cardiology and Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, MA (C.E.S.).

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2020 Oct; Vol. 13 (5), pp. 444-452. Date of Electronic Publication: 2020 Sep 04.

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

Autor: Abou Hassan OK; 1] Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon [2] Department of Internal Medicine, American University of Beirut, Beirut, Lebanon., Fahed AC; 1] Department of Genetics, Harvard Medical School, Boston, MA [2] Department of Medicine, Massachusetts General Hospital, Boston, MA., Batrawi M; Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon., Arabi M; Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon., Refaat MM; 1] Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon [2] Department of Internal Medicine, American University of Beirut, Beirut, Lebanon., DePalma SR; Department of Genetics, Harvard Medical School, Boston, MA., Seidman JG; Department of Genetics, Harvard Medical School, Boston, MA., Seidman CE; 1] Department of Genetics, Harvard Medical School, Boston, MA [2] Howard Hughes Medical Institute and Division of Cardiology, Brigham and Women's Hospital, Boston, MA., Bitar FF; 1] Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon [2] Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon., Nemer GM; Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.

Publikováno v: Scientific reports [Sci Rep] 2015 Mar 06; Vol. 5, pp. 8848. Date of Electronic Publication: 2015 Mar 06.

Cemal Abdül Nasır Döneminde Mısır'da Kültür Politikası. (Turkish)

Autor: MÜJDECİ, Mustafa, ABDELMAKSOUD, Ashwaq Ahmed Manaf

Publikováno v: Çankırı Karatekin University Faculty of Letters Journal; eki2024, Vol. 12 Issue 2, p203-231, 29p

NKX2-5 variants screening in patients with atrial septal defect in Indonesia.

Autor: Rozqie, Royhan^1,2 (AUTHOR), Satwiko, Muhammad Gahan¹ (AUTHOR), Anggrahini, Dyah Wulan¹ (AUTHOR), Sadewa, Ahmad Hamim³ (AUTHOR), Gunadi⁴ (AUTHOR), Hartopo, Anggoro Budi¹ (AUTHOR), Mumpuni, Hasanah¹ (AUTHOR), Dinarti, Lucia Kris¹ (AUTHOR) kris_dinarti@ugm.ac.id

Publikováno v: BMC Medical Genomics. 4/22/2022, Vol. 15 Issue 1, p1-6. 6p.

Screening of NKX2.5 gene in Moroccan Tetralogy of Fallot (TOF) patients: worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype.

Autor: EL Bouchikhi, Ihssane^1,2 (AUTHOR) ihssane.elbouchikhi@usmba.ac.ma, Belhassan, Khadija¹ (AUTHOR), Moufid, Fatima Zohra¹ (AUTHOR), Bouguenouch, Laila¹ (AUTHOR), Samri, Imane¹ (AUTHOR), Iraqui Houssaïni, Mohammed³ (AUTHOR), Ouldim, Karim¹ (AUTHOR), Atmani, Samir⁴ (AUTHOR)

Publikováno v: Egyptian Journal of Medical Human Genetics. 3/11/2021, Vol. 22 Issue 1, p1-7. 7p.