✦ LIBER ✦

Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review

✍ Scribed by Peter Agergaard; Anders Hebert; Karina M. Sørensen; John R. Østergaard; Charlotte Olesen

Book ID: 116433320
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 137 KB
Volume: 54
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2010.09.016

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mosaicism del(22)(q11.2q11.2)/dup(22)(q1

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

✍ Melissa A. Dempsey; Stuart Schwartz; Darrel J. Waggoner 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 1 views

Hematological abnormalities in a patient

Hematological abnormalities in a patient with a 22q11.2 deletion

✍ Mariko Saito; Tatsuya Ishikawa; Yoshinori Ito; Hideo Shimizu 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 111 KB

Clinical Features and Follow-Up in Patie

Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome

✍ Cancrini, Caterina; Puliafito, Pamela; Digilio, Maria Cristina; Soresina, Annaro 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 366 KB

Hemophagocytic lymphohistiocytosis in a

Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2

✍ Aric�, Maurizio; Bettinelli, Alberto; Maccario, Rita; Clementi, Rita; Bossi, Gra 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 3 views

We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira

Neuropsychological Profile and Neuroimag

Neuropsychological Profile and Neuroimaging in Patients with 22Q11.2 Deletion Syndrome: A Review Keywords:

✍ Zinkstok, Janneke; van Amelsvoort, Thérèse 📂 Article 📅 2005 🏛 Taylor and Francis Group 🌐 English ⚖ 140 KB

FISH investigation of 22q11.2 deletion i

FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities

✍ Tahsin Yakut; Sara Sebnem Kilic; Ergun Cil; Esra Yapici; Unal Egeli 📂 Article 📅 2006 🏛 Springer-Verlag 🌐 English ⚖ 200 KB