Results 161 to 170 of about 73,138 (298)

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Why do some Latin American countries flourish despite material constraints? Insights from the Global Flourishing Study. [PDF]

Lancet Reg Health Am
Gonçalves JPB, Lucchetti G, Vallada H, Padgett RN, Cowden RG, VanderWeele TJ.   +5 more
europepmc   +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

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Conceptualising quality early childhood education: Learning from young children in Brazil and South Africa through creative and play‐based methods

British Educational Research Journal, EarlyView., 2023
Abstract Early childhood has increasingly been acknowledged as a vital time for all children. Inclusive and quality education is part of the United Nations Sustainable Development Goals, with the further specification that all children have access to quality pre‐primary education.
Laura H. V. Wright, Irene Rizzini, Malibongwe Gwele, Lynn McNair, Cristina Laclette Porto, Marsha Orgill, E. Kay M. Tisdall, Malcolm Bush, Linda Biersteker   +8 more
wiley   +1 more source

Transition From Primary to Secondary School: Igniting Attendance and Engagement Among Aboriginal and Torres Strait Islander Students Through National Policy Reform

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Closing the Gap reform aims to address disparities experienced by Aboriginal and Torres Strait Islander peoples. There are specific targets focussed on key educational transitions; yet, the transition to secondary education is not a targeted priority.
Azhar Hussain Potia, Kai W. Wheeler, Tracy Woodroffe, Karen Thorpe   +3 more
wiley   +1 more source

Unravelling the Referendum: An Analysis of the 2023 Australian Voice to Parliament Referendum Outcomes Across Capital Cities

Australian Journal of Social Issues, EarlyView.
ABSTRACT The 2023 Australian Voice to Parliament Referendum presented a pivotal moment in the nation's democratic landscape. Despite support for Indigenous well‐being, the referendum did not secure the necessary approval, prompting extensive analysis of its outcome.
Scott Baum, William Mitchell
wiley   +1 more source

Strengthening Treaty Understanding: The Role of Education in Building Durable Indigenous–State Agreements

Australian Journal of Social Issues, EarlyView.
ABSTRACT Education is a central mechanism for ensuring that Indigenous–State treaties are understood, supported and endure through political change. Public knowledge shapes the negotiation, acceptance, implementation and long‐term stability of agreements. In Australia, however, treaty knowledge remains fragmented.
Jacob Prehn, Harry Hobbs, Jessica Horton
wiley   +1 more source