Results 121 to 130 of about 4,139 (244)

How does the Kids SIPsmartER program impact the sugar‐sweetened beverage intake of students: An investigation beyond total treatment effect in randomized controlled trial

American Journal of Agricultural Economics, EarlyView.
Abstract This study develops and empirically estimates a structural framework to decompose the causal pathways of multilevel behavioral interventions targeting adolescent health behaviors. We apply this framework to the Kids SIPsmartER (KSS) program, a 6‐month, school‐based intervention evaluated through a clustered randomized controlled trial in rural
Naveen Abedin, Wen You, Annie Reid, Kathleen Porter, Brittany Kirkpatrick, Jamie Zoellner   +5 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

A 3D Finite Element Analysis on Stress Distribution of Two Ceramic Materials Used for Fabrication of Laminate Veneers using Two Preparation Designs: An In-vitro Study

Journal of Clinical and Diagnostic Research
Introduction: Veneers have been successfully used in cases of aesthetic and cosmetic dentistry. As the thickness of veneers needs to be 0.5 mm to enable bonding to enamel, the preparation of teeth is crucial to ensure longevity.
Supriyo Jana, Jayanta Bhattacharyya, Samiran Das, Preeti Goel, Ankita Tamta, Saumyadeep Ghosh, Soumadip Niyogi, Rahul Paul   +7 more
doaj   +1 more source

Mock up - Ensaio Restaurador [PDF]

, 2014
TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.Quando realiza um tratamento estético, dois passos são imprescindíveis para se obter o sucesso: correto diagnóstico e bom planejamento. Uma das formas para
Warmling, Paulo Gabriel
core  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Aesthetic restorations with porcelain veneers [PDF]

, 2018
Aim:Due to high aesthetic qualities, proven biocompatibility and prognosis for long term durability, porcelain veneers have become a routine restorative procedure for treatment of frontal teeth. The aim of this study was to evaluate their use through the
Longurova, Natasa, Kashuba, Monika, Zlatanovska, Katerina   +2 more
core  

The Success of Dental Veneers According To Preparation Design and Material Type. [PDF]

Open Access Maced J Med Sci, 2018
Alothman Y, Bamasoud MS.
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source