✦ LIBER ✦

Supravalvular aortic stenosis as a non-syndromic familial disease. Relevance of familial screening

✍ Scribed by Martín, María; Secades, Sandra; Plasencia, Ana M.; Rodríguez, María Luisa; Corros, Cecilia; García-Campos, Ana; García-Ruiz, José Manuel; de la Hera, Jesús M.; Morales, Carlos

Book ID: 122250375
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 310 KB
Volume: 172
Category: Article
ISSN: 0167-5273
DOI: 10.1016/j.ijcard.2014.01.050

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Vitamin D as a cause of the supravalvula

Vitamin D as a cause of the supravalvular aortic stenosis syndrome

✍ William F. Friedman 📂 Article 📅 1967 🏛 Elsevier Science 🌐 English ⚖ 296 KB

Concurrence of supravalvular aortic sten

Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: A form of arterial dysplasia

✍ Kumar, Anil ;Stalker, Heather J. ;Williams, Charles A. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 952 KB

Whole exome sequencing for the identific

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

✍ Gago-Díaz, Marina; Blanco-Verea, Alejandro; Teixidó-Turà, Gisela; Valenzuela, Ir 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 779 KB

Immunohistochemical detection of hMSH2 a

Immunohistochemical detection of hMSH2 and hMLH1 as a screening test in the tumor cells of colon cancer family syndromes

✍ Dieumegard, B.; Grandjouan, S.; Sabourin, JC; Le Bihan, MC; Lasser, P.; Duvillar 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 153 KB

Biochemical, genetic and ultrastructural

Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann- Pick disease

✍ K. FRIED; S. BEER; H. I. KRESPIN; H. LEIBA; M. DJALDETTI; D. ZITMAN; C. KLIBANSK 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 482 KB

Molecular screening in Sicilian families

Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: Identification of a novel mutation in MSH2 gene

✍ Cavallaro, Andrea; Russo, Angela; Catania, Vito Emanuele; Ficili, Bartolomea; Ro 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 500 KB