Below are the most recent publications written about "Heredity" by people in Profiles.
-
Kaadan MI, MacDonald C, Ponzini F, Duran J, Newell K, Pitler L, Lin A, Weinberg I, Wood MJ, Lindsay ME. Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection. Circ Genom Precis Med. 2018 04; 11(4):e001933.
-
Roston TM, Yuchi Z, Kannankeril PJ, Hathaway J, Vinocur JM, Etheridge SP, Potts JE, Maginot KR, Salerno JC, Cohen MI, Hamilton RM, Pflaumer A, Mohammed S, Kimlicka L, Kanter RJ, LaPage MJ, Collins KK, Gebauer RA, Temple JD, Batra AS, Erickson C, Miszczak-Knecht M, Kubu? P, Bar-Cohen Y, Kantoch M, Thomas VC, Hessling G, Anderson C, Young ML, Choi SHJ, Cabrera Ortega M, Lau YR, Johnsrude CL, Fournier A, Van Petegem F, Sanatani S. The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry. Europace. 2018 03 01; 20(3):541-547.
-
Wheeler KC, Warr DJ, Warsetsky SI, Barmat LI. Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. Fertil Steril. 2016 Jan; 105(1):144-8.
-
Lowengrub KM, Moss DR, Moss DA, Moss AJ. Long QT syndrome: how effective therapy in a single patient favorably influenced the long-term clinical course and genetic understanding of this hereditary disorder. Prog Cardiovasc Dis. 2015 Sep-Oct; 58(2):221-6.
-
Stitziel NO, Fouchier SW, Sjouke B, Peloso GM, Moscoso AM, Auer PL, Goel A, Gigante B, Barnes TA, Melander O, Orho-Melander M, Duga S, Sivapalaratnam S, Nikpay M, Martinelli N, Girelli D, Jackson RD, Kooperberg C, Lange LA, Ardissino D, McPherson R, Farrall M, Watkins H, Reilly MP, Rader DJ, de Faire U, Schunkert H, Erdmann J, Samani NJ, Charnas L, Altshuler D, Gabriel S, Kastelein JJ, Defesche JC, Nederveen AJ, Kathiresan S, Hovingh GK. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2013 Dec; 33(12):2909-14.
-
Elefteriades JA, Pomianowski P. Practical genetics of thoracic aortic aneurysm. Prog Cardiovasc Dis. 2013 Jul-Aug; 56(1):57-67.
-
Treff NR, Campos J, Tao X, Levy B, Ferry KM, Scott RT. Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder. Fertil Steril. 2012 Nov; 98(5):1236-40.
-
Rodr?guez FA, Gana MJ, Yubero MJ, Zillmann G, Kr?mer SM, Catal?n J, Rubio-Astudillo J, Gonz?lez S, Liu L, Ozoemena L, Mellerio JE, Mellerio JM, McGrath JA, Palisson F, Conget P. Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa. J Dermatol Sci. 2012 Feb; 65(2):149-52.
-
Uitto J. In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive. Acta Derm Venereol. 2011 May; 91(3):259-61.
-
Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martin?z AE, Mellerio JE, McGrath JA. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol. 2011 May; 91(3):262-6.