Results 81 to 90 of about 419 (137)

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

, 2015
© 2015 S. Karger AG, Basel. Objective: To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of ...
Tang, Sha, Wilson, Ashley, Glassberg, Kenneth, Zeng, Wenqi, Miller, Russell S., Sepulveda, Antonia R., Rotterdam, Heidi, Shahmirzadi, Layla, Leduc, Charles A., Mills, Ashley, Chung, Wendy K., Rohena, Luis, Guo, Jiancheng, Tuzovic, Lea, Li, Xiang, Gonzalez, Kelly, Anyane-Yeboa, Kwame   +16 more
core   +1 more source

ACTG2 mutations affect conserved residues that are also targets for Mendelian disease.

, 2014
A.) Depiction of the mutations on the exons of the gene. Introns are not shown to scale. The mutations associated with MMIHS and intestinal pseudo-obstruction (orange) and those associated with intestinal pseudo-obstruction (green), including the ...
Liene Kornejeva (544130), Timothy Moss (544126), Claudia Gonzaga-Jauregui (269566), Shalini Jhangiani (544135), Tomasz Gambin (39373), Yaping Yang (292220), Joke Beuten (544134), Steven Werlin (544128), Samantha Penney (544125), Michael F. Wangler (544124), Fan Xia (219575), Efrat Lev Lehman (544132), Carlos A. Bacino (273553), Frank J. Probst (256177), Jeff Neul (544131), Atul Chopra (544127), Richard A. Gibbs (94141), James R. Lupski (6678), Arthur Beaudet (544136), Dustin Baldridge (249058), Ieva Eglite (544129), Austin Larson (544133), Donna M. Muzny (133600)   +22 more
core   +1 more source

Pharmacy Practice Scenario and Job Satisfaction among Nepalese Pharmacists

Journal of Karnali Academy of Health Sciences, 2019
Introduction: Pharmacists are the key players in the health care system. Job satisfaction is a very important contributing factor to a person’s productivity and motivation. The main objective of this study is to find out the present scenario of pharmacy
Dharma Prasad Khanal, Bishwo Raj Dhungana, Naresh Kadyat   +2 more
doaj  

Internalized HIV Stigma, Internalized Homophobia, and Depression among Latino MSM Living with HIV [PDF]

, 2012
Internalized HIV Stigma, Internalized Homophobia, and Depression among Latino MSM Living with HIV. Cesar Villarreal^, John A. Sauceda, Jane Simoni, and John S. Wiebe*. Department of Psychology, University of Texas at El Paso; and Department of Psychology,
Villarreal, Cesar, ^, Simoni, Jane M., Wiebe, John S., *, Sauceda, John A.   +3 more
core   +1 more source

Sonographic findings in a fetus with megacystis-microcolon-intestinal hypoperistalsis syndrome

, 2009
[[abstract]]©1998 WILEY - We describe the perinatal findings in a female fetus with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).
Chen CP;Wang TY;Chuang CY
core   +1 more source

Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report. [PDF]

Cureus, 2023
Finsterer J, Mehri S.
europepmc   +1 more source

Extremely severe hypochloremic metabolic alkalosis after ileorectal anastomosis in a patient with chronic intestinal pseudo-obstruction. [PDF]

Gastroenterol Rep (Oxf), 2023
Heinz-Erian P, Janecke AR, Müller T, Rehder P, Bruder E, Menter T, Zoller H, Pirklbauer M, Rieger M.   +8 more
europepmc   +1 more source

Imaging of megacystis-microcolon-intestinal hypoperistalsis syndrome before, during, and after the neonatal period: a pictorial review. [PDF]

Pediatr Radiol
Krishnasarma R, Maria Anthony Rayer DA, Sarma A, Singh S, Reddy N, Foust A, Johnstone L, Singh S, Snyder E.   +8 more
europepmc   +1 more source

Knowledge and utilization of family planning and safe abortion services among married women of reproductive age in the Raute community of Nepal: A census-based cross-sectional study. [PDF]

PLOS Glob Public Health
Joshi M, Bhatt A, Sharma A, Thapa M, Khanal S.   +4 more
europepmc   +1 more source