Results 141 to 150 of about 2,091 (217)

Freedom dreaming of migrant justice: Critical reflections on counterspaces and institutional violence in the university

American Journal of Community Psychology, EarlyView.
Abstract US universities are built on stolen land and sustained through hierarchies of power that produce what migrant justice scholars name as b/order regimes. As institutions that claim to be sites of learning and inclusion, universities are fraught with contradictions as simultaneously sites of dispossession, exclusion, and control.
Sara L. Buckingham, Jesica Siham Fernández   +1 more
wiley   +1 more source

Community partner perspectives on community‐academic health research partnerships with Black American communities: A scoping review

American Journal of Community Psychology, EarlyView.
Abstract Evaluations of community‐engaged research (CEnR) typically emphasize health outcomes rather than the partnership processes that contribute to intervention effectiveness. This scoping review synthesized community partner‐identified strategies for successful community‐academic health research partnerships with Black American communities and ...
Kaylyn A. Garcia, Dylan R. Wong, Derek M. Griffith, Nada M. Goodrum, Bret Kloos, Shannon Deutsch, Guillermo M. Wippold   +6 more
wiley   +1 more source

Chromosomal Abnormalities, Drug Sensitivity and Resistance in Hematological Malignancies: A Comprehensive Overview by the Francophone Group of Hematological Cytogenetics (GFCH)

American Journal of Hematology, EarlyView.
ABSTRACT Chromosomal abnormalities have a major clinical impact on hematological malignancies, particularly with regard to treatment strategies. To preserve and consolidate fundamental knowledge in this rapidly evolving field, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) conducted a ...
Florence Nguyen‐Khac, Audrey Bidet, Elise Chapiro, Nathalie Douet‐Guilbert, Jean‐Baptiste Gaillard, Nada Assaf, Nathalie Auger, Hend Chaker, Jasmine Chauzeix, Inge Govaerts, Hippolyte Guérineau, Christine Lefebvre, Pauline Roynard, Hélène Guermouche, Lucienne Michaux, Marie‐Bérengère Troadec, Lauren Véronèse   +16 more
wiley   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +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

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Effectiveness and safety of anti-CGRP monoclonal antibodies for migraine in patients over 65 years: a systematic review. [PDF]

Pain Manag
Muñoz-Vendrell A, López-Bravo A, Layos-Romero A, Alberola-Amores FJ, Caballero MOL, Sánchez-Soblechero A, Morales-Hernández C, Castro-Sánchez MV, Navarro-López MP, Córdova-Infantes MR, Caronna E, Irimia P, Gonzalez-Martinez A, junior Headache Group of the Spanish Society of Neurology (jGECSEN).   +13 more
europepmc   +1 more source