Results 191 to 200 of about 552,178 (258)

Correction: Shared and condition-associated gut microbiota alterations in older adults with depression and constipation: evidence from the American Gut Project. [PDF]

Front Microbiol
Li X, Ke L, Wang T, Lei Z, Tian F, Zhang Y, Liu X.   +6 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Motivation and barriers to physicians' academic career in gastroenterology in France. [PDF]

Med Educ Online
Chouik Y, Sidali S, Canivet CM, Meunier L.   +3 more
europepmc   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Patient outcomes and healthcare utilisation following implementation of an advanced therapy care pathway for inflammatory bowel disease: a multicentre, prospective quasi-experimental preimplementation/postimplementation study in the Netherlands. [PDF]

BMJ Open Gastroenterol
Visser EH, Oude Voshaar MA, Van Linschoten RCA, Hoekstra J, Robbers K, de Jonge V, Koehler E, Verweij KE, van der Wiel S, van der Horst D, van der Woude CJ, van Noord D, West RL, Southwest Netherlands IBD Study Group.   +13 more
europepmc   +1 more source

Response to Letter to the Editor Regarding to “More Liver Volume is Necessary for High Risk Living Donor Liver Transplantation Candidates”

Annals of Gastroenterological Surgery, EarlyView.
Kyohei Yugawa, Takeo Toshima, Shinji Itoh, Tomoharu Yoshizumi   +3 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Correction to "Acetate- Versus Lactate-Buffered Crystalloids for Prevention of Post-ERCP Pancreatitis in Patients Without Access to Rectal NSAIDs: A Multicentre Double-Blind Randomized Trial". [PDF]

United European Gastroenterol J
europepmc   +1 more source

Self-Directed Mikoto Simulator Training for Colonoscopy in Gastroenterology Trainees: An International Multicenter Randomized Trial. [PDF]

J Gastroenterol Hepatol
Yamaguchi D, Shimoda R, Fujii M, Ohya TR, Chiu HM, Tominaga N, Hidaka H, Kawakubo H, Minoda Y, Maehara K, Fukuda H, Okamura T, Tanaka K, Kobayashi M, Muranaka T, Miyamoto S, Esaki M, Takamori A, Ikebuchi Y, Akashi T, Yamaguchi N, Ueki M, Isomoto H, Esaki M.   +23 more
europepmc   +1 more source

Translation and Cross‐Cultural Adaptation of the Chronic Rhinosinusitis Control Test for Global Use

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction The Chronic Rhinosinusitis Control Test (CRCT) is a patient‐reported outcome measure (PROM) written in English that is psychometrically validated to measure chronic rhinosinusitis control. Because the availability of translated PROMs is a driver of data equity—collection of data that is fair and generally representative—our ...
Hye K. Pae, Detong Xia, Hanzhong Sun, Yudi Chen, Kwangoh Yi, Minjeong Song, Eriko Sato, Ali R. Abasi, Jody Ballah, Anna Babarczy, Raymond Bertram, Agnieszka Biernacka, Mable Chan, Teresa Civera, Irina Dubinina, Doğu Erdener, María Isabel Maldonado García, Ali Garib, Tuomo Häikiö, Fuk‐chuen HO, Li‐Yu Hung, R. Malatesha Joshi, Oksana Kanerva, Kiranpreet Kaur Baath, Björn Köhnlein, Dalibor Kučera, Paula Luegi, Yustinus Calvin Gai Mali, Sivan Medina, Stefan Milosavljević, Amna Mirza, Mohamed Y. Mwamzandi, Fatemeh Nami, Anabella‐Gloria Niculescu‐Gorpin, Portia Padilla, Georgia Panayiotou, Manuel Perea, Luciano Perondi, Hiển Phạm, Rasmus Puggaard‐Rode, Anurag Rimzhim, Sreeparna Sarkar, David L. Share, Gláucia V. Silva, Antônio R. M. Simões, Charlotte Stormbom, Titima Suthiwan, Katsuo Tamaoka, Mila Tasseva‐Kurktchieva, Paweł Urbanik, An Van, Katie M. Phillips, Ahmad R. Sedaghat   +52 more
wiley   +1 more source