Results 141 to 150 of about 3,064 (300)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Replication data for: Pedagogical applications of learner corpora

This dataset contains replication and supplementary documentation of a systematic review of peer-reviewed research published in the period from 01 January 2014 to 08 August 2023 in the field of learner corpus research (LCR).
Karlsen, Petter Hagen, Nacey, Susan Lee
core   +1 more source

Diffusion MRI and α‐Synuclein Seed Amplification Status in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Positive α‐synuclein seed amplification assay (SAA) is a biomarker found in most people with Parkinson's disease (PD). We explored if free‐water (FW) imaging detects microstructural differences in the brains of patients with early PD with SAA+ or SAA– status.
Shannon Y. Chiu, Wei‐en Wang, Robin Chen, Jesse C. DeSimone, Derek B. Archer, Charles H. Adler, Shyamal H. Mehta, Sara R. Dresler, Melissa J. Armstrong, Nikolaus McFarland, Michael Okun, David E. Vaillancourt, Parkinson's Progression Markers Initiative, Neha Prakash, Tanya Simuni, Nabila Dahodwala, Caroline Tanner, Lana Chahine, Brit Mollenhauer, Anat Mirelman, Roy Alcalay; Katherine Leaver, Marie Saint‐Hilaire, Ruth Schneider, Christopher Tarolli, Werner Poewe, Aleksandar Videnovic, David Standaert, Marissa Dean, Sonja Jonsdottir, Rejko Krueger, Claire Pauly, Stewart Factor, Penelope Hogarth, Robert Hauser, Amy Amara, Michelle Fullard, Cyrus Zabetian, Hubert Fernandez, Kathrin Brockmann, Isabel Wurster, Yen Tai, Paolo Barone, Marina Picillo, Stuart Isaacson, Alberto Espay, Eduardo Tolosa, Javier Ruiz Martinez, Leonidas Stefanis, Kelvin Chou, Lorraine Kalia, Connie Marras, David Grimes, Tiago Mestre, Rajesh Pahwa, Mark Lew, Holly Shill, Shyamal Mehta, Giulietta Riboldi, Nikolaus McFarland, Ron Postuma, Zoltan Mari, David Ledingham, Nicola Pavese, Michele Hu, Norbert Brueggemann, Christine Klein, Bastiaan Bloem, Cristina Simonet, Alastair Noyce, Anette Janzen, David Pedrosa, Wolfgang Oertel, Njideka Okubadejo, David Shprecher, Arjun Tarakad, Emile Moukheiber, Joy Antala, Carla Aranda, Karen Williams, Sophia Melton, Karina Benson, Ashwini Ramachandran, Danielle Potts, Grace LaMoure, Ritikha Vengadesh, Ryan Manzler, Jaime Heller, Primi Ranola, Farah Kausar, Sherri Mosovsky, Diana Willeke, Elizabeth Kalinkara Gomez, Janelle Rodriguez, Nobuko Kemmotsu, May Eshel, Deborah Raymond, Abigail Desrosiers, Raymond James, Lauren Jackson, Iris Egner, Wesley Schlett, Courtney Blair, Lauren Ruffrage, Berenice Sevilla, Barbara Sommerfeld, Dustin Le, Erica Botting, Gabriella Mazur, Daniele Derlein, Ying Liu, Ciera Cobb, Olivia Masiewicz, Jennifer Mule, Michael Morsillo, Ella Hilt, Lisbeth Pennente, Bobbie Stubbeman, Alicia Garrido, Valeria Ravasi, Ioana Croitoru, Christos Koros, Nikolas Papagiannakis, Frank Ferrari, Mengyu Zheng, Shawna Reddie, Alicia Alejandra, Andrea Gray, Alejandra Valenzuela, Caitlin Goodman, Sara Dresler, Neil Santos, Fahrial Esha, Kyle Rizer, Nadine Zablith, Liliana Dumitrescu, Debra Galley, Victoria Kate Foster, Jamil Razzaque, Madita Grümmer, Yara Krasowski, Elisabeth Sittig, Oluwadamilola Ojo, Kelly Clark, Rory Mahabir, Kori Ribb, Shamera Willoughby   +145 more
wiley   +1 more source

Turning a new leaf: PhenoVision provides leaf phenology data at the global scale

Applications in Plant Sciences, EarlyView.
Abstract Premise Plant phenology dictates many aspects of community function and ecosystem dynamics. Yet, global phenology data are still limited, especially in areas lacking monitoring programs. Here we present a new data resource, PhenoVision–Leaf, which extends a computer vision pipeline utilizing iNaturalist digital image vouchers to produce global‐
Erin L. Grady, Ellen G. Denny, Carrie E. Seltzer, John Deck, Daijiang Li, Russell Dinnage, Robert P. Guralnick   +6 more
wiley   +1 more source

Comparative and functional anatomy of masticatory muscles and bite force in opossums (Didelphimorphia, Didelphidae)

The Anatomical Record, EarlyView.
We describe the functional anatomy of masticatory muscles in nine opossums, finding a generalized anatomical pattern with differences related to skull morphology. Variation in quantitative myological data and estimated bite force was mostly related to size, and the increase in bite force supports dietary diversification associated with size increase ...
Juann A. F. H. Abreu, Diego Astúa
wiley   +1 more source

Neuroanatomical diversity in Teleocichla with new volumetric and histological insights into the encephalon of Teleocichla monogramma Kullander 1988

The Anatomical Record, EarlyView.
Abstract Teleocichla comprises small cichlids that inhabit the rapid streams of Amazonian rivers; however, there has been limited research on their encephalon morphology. This study examined the neuroanatomy of four species, focusing on volumetric measurements of their encephalon subregions, and providing a histological description of the encephalon of
Renan Leão‐Reis, Keila Xavier Magalhães, Thiago Nilton A. Pereira, Janice Muriel‐Cunha, Alberto Akama   +4 more
wiley   +1 more source

On two SweLL learner corpora – SweLL-pilot and SweLL-gold

SweLL – Swedish Learner Language – is a unifying term for the infrastructure module for research on Swedish as a Second Language (L2), deployed and maintained as a part of bigger infrastructure of Språkbanken Text at the University of Gothenburg, Sweden.
Volodina, Elena
core   +1 more source

Production of 3D printed biomodels of the canine brain for veterinary neuroanatomy teaching

Anatomical Sciences Education, EarlyView.
Abstract Teaching neuroanatomy presents multiple challenges to both students and teachers, as it is a subject with highly dense content that commonly causes the development of aversion by students, a phenomenon referred to as “neurophobia,” which has been documented in human and veterinary medicine students.
João Victor Barbosa Tenório Fireman, Antônio Chaves de Assis Neto   +1 more
wiley   +1 more source