Results 181 to 190 of about 42,411 (207)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Competencies for medical nutritional counselling of children and adolescents: Analysis of NKLM 2.0 based on an evidence-based catalogue of criteria. [PDF]

GMS J Med Educ
Rudolf LS, Bunzel C, Dietz LM, Kröller K, Markert J, Schörghofer HC, Meixner M, von Iven L, Lux A, Rissmann A.   +9 more
europepmc   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

High-Risk Human-AI Engagement: Clinical Assessment and Management Considerations. [PDF]

Can J Psychiatry
Palaniyappan L, Paquin V, Barou-Laforie E.   +2 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Characteristics of Older Adults Seeking Hearing Aids for the First Time and Initial Fitting Parameters in Mainland China. [PDF]

Audiol Res
Wong LLN, Lai SP, Ng E, Pasta A, Nastas A.   +4 more
europepmc   +1 more source

Corrigendum to Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets. [PDF]

J Clin Invest
Bacos K, Perfilyev A, Karagiannopoulos A, Cowan E, Ofori JK, Bertonnier-Brouty L, Rönn T, Lindqvist A, Luan C, Ruhrmann S, Ngara M, Nilsson Å, Gheibi S, Lyons CL, Lagerstedt JO, Barghouth M, Esguerra JL, Volkov P, Fex M, Mulder H, Wierup N, Krus U, Artner I, Eliasson L, Prasad RB, Cataldo LR, Ling C.   +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

DOMINICA protocol: A study of benralizumab for severe eosinophilic asthma in children. [PDF]

Pediatr Allergy Immunol
Guilbert TW, Jison M, Sjö LB, Werkström V, Grindebacke H, Durżyński T, Lal A, Grigg J.   +7 more
europepmc   +1 more source

Magnetic Particle Imaging Distinguishes Viable and Damaged Cells by Exploiting Distinct Magnetic Signatures of Internalized Nanoparticles. [PDF]

Small Sci
Kampen L, Kosch O, Stach A, Fiebig NDC, Löwa N, Wiekhorst F, Ludwig A, Remmo A.   +7 more
europepmc   +1 more source