Results 191 to 200 of about 20,434 (263)

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Implementing Genomic Medicine in a Federally Qualified Health Center: Assessing Readiness through a Mixed-Methods Approach.

Public Health Genomics
Heffernan EW, Das P, Hearld L, Stager CG, Whitfield S, Moss I, Osborne T, Zayzafoon A, Mosely C, Korf B, Limdi N, Bateman LB.   +11 more
europepmc   +1 more source

The mediating role of brand equity in corporate social responsibility and customer purchase intention based on text-CNN model. [PDF]

Sci Rep
Shen Z, Li H, Zhang Y.
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Prioritising Indicators for Large-scale Monitoring and Assessment of Food Environments for Public Health. [PDF]

Curr Obes Rep
Vanderlee L, Garton K, Ahmed M, Backholer K, Batis C, Bragg MA, Boyland E, Cameron AJ, Castronuovo L, Dunford EK, Gómez-Donoso C, Hu G, Jones A, Kelly B, Laar A, Lewis M, Méndez-Lazarte C, Mackay S, Pollard CM, Reeve E, Schultz S, Scapin T, Soares-Wynter S, Swart R, Swinburn B, Vaillancourt C, Sacks G.   +26 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Adapting and Implementing a School-Based "Implementation Intentions" Program Within FRESHAIR4Life to Prevent Smoking Initiation Among Adolescents in Greece: A Study Protocol. [PDF]

Healthcare (Basel)
Bouloukaki I, Christodoulakis A, Peraki S, Brand FAVD, Siddiqui F, Krasanakis T, Aravantinou-Karlatou A, Abhyankar P, Williams S, van Koeveringe J, van der Kleij RM, Tsiligianni I.   +11 more
europepmc   +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

A study of consumer-generated advertising-An experimental analysis based on purchase experiences, information channels, and privacy costs. [PDF]

PLoS One
Cai C, Liu Y.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source