✦ LIBER ✦

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: Case report and critical review of the literature

✍ Scribed by Orazio Palumbo; Pietro Palumbo; Raffaella Stallone; Teresa Palladino; Leopoldo Zelante; Massimo Carella

Book ID: 119241469
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 664 KB
Volume: 513
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2012.09.132

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

De novo microdeletions of chromosome 6q1

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

✍ Becker, Kerstin; Di Donato, Nataliya; Holder-Espinasse, Muriel; Andrieux, Joris; 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 739 KB

Microdeletion del(22)(q12.2) encompassin

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene,MN1(meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

✍ Tom B Davidson, Pedro A Sanchez-Lara, Linda M Randolph, Mark D Krieger, Shi-Qi W 📂 Article 📅 2012 🏛 BioMed Central 🌐 English ⚖ 470 KB

De Novo Membranoproliferative Glomerulon

De Novo Membranoproliferative Glomerulonephritis III in a renal transplant patient: Case report and review of the literature

✍ Anuja Java; Joseph P Gaut; Daniel C Brennan 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 272 KB

De novo appearance of cerebellar caverno

De novo appearance of cerebellar cavernous malformation in a patient with moyamoya disease: Case report and review of the literature

✍ Kojiro Korematsu; Susumu Yoshioka; Takashi Maruyama; Yasuyuki Nagai; Ko-Ichi Tsu 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 818 KB

A de novo desmoid tumor of the surgical

A de novo desmoid tumor of the surgical site following foramen magnum meningioma resection in a patient with Gardner’s Syndrome: a case report and review of the literature

✍ Tyler James Kenning; Vikramjit S. Kanwar; Jiang Qian; Eric M. Deshaies 📂 Article 📅 2008 🏛 Springer US 🌐 English ⚖ 355 KB

Successful radiotherapy in a patient wit

Successful radiotherapy in a patient with primary rectal mucosa-associated lymphoid tissue lymphoma without the API2-MALT1 fusion gene: A case report and review of the literature

✍ Taisuke Kobayashi; Naoki Takahashi; Yuki Hagiwara; Jun-ichi Tamaru; Hidekazu Kay 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 218 KB

Primary rectal MALT lymphoma is rare comprising less than 1% of MALT lymphomas. A 26-year-old man was referred to our hospital because of constipation and abdominal fullness. Colonoscopy revealed multiple submucosal tumors in rectum. Histopathological examination showed dense proliferation of small