Results 101 to 110 of about 228,263 (297)

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

FREQUENCY AND TYPE OF DYSPLASIA IN ULCERATIVE COLITIS IN COLORECTAL BIOPSIES

Pakistan Armed Forces Medical Journal, 2020
Objective: To determine the frequency and type of dysplasia in ulcerative colitis in colorectal biopsies. Study Design: Cross sectional analytical study.
Shagufta Iram, Muahmmad Tahir Khadim, Syed Salman Ali, Unaiza Jamil, Kiran Mumtaz   +4 more
doaj  

Role of general practice doctor in the treatment of Signet ring cell carcinoma [PDF]

Praxis Medica, 2019
Introduction: Stomach cancer is the second in mortality and the fourth most frequent of all cancers in the world. In the recent decades, the number of patients with Signet ring cell carcinoma type has been growing.
Knežević Snežana B., Gajović Ivan Z., Đurović Ljiljana   +2 more
doaj  

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Fibromuscular dysplasia [PDF]

Kidney International, 2009
Sperati, C. John, Aggarwal, Nisha, Arepally, Aravind, Atta, Mohamed G.   +3 more
openaire   +2 more sources

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

Anhydrotic Ectodermal Dysplasia [PDF]

, 1966
R S Wells
openalex   +1 more source

Research advancements and evaluation of multifactor‐induced murine models for gastric cancer

Animal Models and Experimental Medicine, EarlyView.
Murine models for gastric cancer. Abstract As one of the most prevalent gastrointestinal malignancies in humans, gastric cancer (GC) is often detected at an advanced stage, resulting in a poor prognosis and ranking it the fifth leading cause of cancer‐related deaths.
Yiqing Wang, Liang Zhang, Weixu Feng, Wanfeng Liu, Xiangyang Xue, Shiyu Feng   +5 more
wiley   +1 more source

Malignant progression of liver cancer progenitors requires lysine acetyltransferase 7–acetylated and cytoplasm‐translocated G protein GαS

Hepatology, EarlyView., 2022
KAT7‐acetylated and cytoplasm‐translocated G‐protein GαS enhances IL‐6 effect and drives HCC progenitor cell progression. Abstract Background and Aims Hepatocarcinogenesis goes through HCC progenitor cells (HcPCs) to fully established HCC, and the mechanisms driving the development of HcPCs are still largely unknown.
Ye Zhou, Kaiwei Jia, Suyuan Wang, Zhenyang Li, Yunhui Li, Shan Lu, Yingyun Yang, Liyuan Zhang, Mu Wang, Yue Dong, Luxin Zhang, Wannian Zhang, Nan Li, Yizhi Yu, Xuetao Cao, Jin Hou   +15 more
wiley   +1 more source

Epidemiology of congenital dysplasia or dislocation of the hip (CDH) in newborns, Babol, 1996-97

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2001
Objective: Developmental dysplasia or dislocation of the hip (DDH) is a common and serious problem of newborns and infants. In different parts of the world, the incidence of DDH is different according to their geographical area, race, tribe and culture ...
N Jan Mohammadi
doaj