Potential Role of Cortisol in Social and Memory Impairments in Individuals with 22q11.2 Deletion Syndrome [0.03%]
皮质醇在22q11.2缺失综合征患者社交及记忆损伤中潜在作用的横断面研究
Daniel Jacobson,Megan Bursch,Renee Lajiness-O&#x;Neill
Daniel Jacobson
22q11.2 Deletion syndrome is a genetic disorder characterized by physiological and psychological symptoms. This study investigated the role of cortisol on the social and cognitive impairments in children with 22q11.2. A total of 11 children...
Nicolle Bugescu,Paige E Naylor,Kyr Hudson et al.
Nicolle Bugescu et al.
Fabry disease (FD) is a multisystemic disease that has previously been reported to result in poorer quality of life and psychosocial functioning in impacted adults. However, prior to the current study, limited data were available on the imp...
The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature [0.03%]
7q11.23微重复综合征的临床报道及文献复习
Elham Abbas,Devin M Cox,Teri Smith et al.
Elham Abbas et al.
We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific pho...
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome [0.03%]
横纹肌样肿瘤病 predisposition 综合征和肺母细胞瘤综合征
Valerie A Fitzhugh
Valerie A Fitzhugh
In recent years, hereditary cancer syndromes have developed greater interest in the scientific community. Two such syndromes, rhabdoid tumor syndrome and pleuropulmonary blastoma (DICER1) syndrome, have appeared increasingly in the literatu...
Jennifer J Findeis-Hosey,Kelly Q McMahon,Sarah K Findeis
Jennifer J Findeis-Hosey
Von Hippel-Lindau disease is an autosomal dominant syndrome which occurs secondary to germline mutations in the VHL tumor suppressor gene, located on chromosome 3. Clinically von Hippel-Lindau disease is characterized by an increased risk o...
Raul S Gonzalez,Nicole D Riddle
Raul S Gonzalez
Certain tumors suggest the possibility of a patient harboring a genetic syndrome, particularly in children. Syndrome-associated tumors of the gastrointestinal tract, genitourinary tract, gynecologic tract, heart, lungs, brain, eye, endocrin...
Jesse Lee Kresak,Meggen Walsh
Jesse Lee Kresak
The neurofibromatoses are a heterogeneous group of hereditary cancer syndromes that lead to tumors of the central and peripheral nervous systems, as well as other organ systems. By far the most common form is neurofibromatosis 1 (96%), foll...
Multiple Endocrine Neoplasia: A Genetically Diverse Group of Familial Tumor Syndromes [0.03%]
多种内分泌肿瘤：一组遗传多样性的家族性肿瘤综合征
M Cristina Pacheco
M Cristina Pacheco
Multiple endocrine neoplasia (MEN) syndrome is a familial cancer syndrome characterized by neuroendocrine tumors. The syndrome encompasses four major subtypes: MEN1, MEN2A, MEN2B, and MEN4. MEN1 is caused by mutations in the MEN1 gene, MEN2...
Li-Fraumeni Syndrome [0.03%]
李-弗拉梅尼综合征
Hernán Correa
Hernán Correa
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by a germline mutation of the TP53 gene on chromosome 17p13.1. It has an autosomal dominant pattern of inheritance with high penetrance. These patients have a very high l...
Alexia Waller,Sarah Findeis,Michael J Lee
Alexia Waller
Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastroi...