Results 81 to 90 of about 114,859,711 (330)

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Ontogeny of sex differences in response to novel objects from adolescence to adulthood in Lister-hooded rats [PDF]

, 2011
This work was supported by The Wellcome Trust [grant 078405/Z/05/Z]n humans, novelty-seeking behavior peaks in adolescence and is higher in males than females.
Gillian R. Brown, Brown, Gillian Ruth, De‐Laine M. Cyrenne, Cyrenne, De-Laine   +3 more
core   +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

Maternal Smoking During Pregnancy Induces Persistent Epigenetic Changes Into Adolescence, Independent of Postnatal Smoke Exposure and Is Associated With Cardiometabolic Risk

Frontiers in Genetics, 2019
Background: Several studies have shown effects of current and maternal smoking during pregnancy on DNA methylation of CpG sites in newborns and later in life.
S. Rauschert, P. Melton, G. Burdge, J. Craig, K. Godfrey, J. Holbrook, K. Lillycrop, T. Mori, L. Beilin, W. Oddy, C. Pennell, Rae-Chi Huang   +11 more
semanticscholar   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Study protocol for the evaluation of an Infant Simulator based program delivered in schools: a pragmatic cluster randomised controlled trial [PDF]

, 2010
Extent: 11p.Background: This paper presents the study protocol for a pragmatic randomised controlled trial to evaluate the impact of a school based program developed to prevent teenage pregnancy.
Lawrence, D., Hart, M., Silburn Sven, Judith AY Straton, Johnson, S., Hart Michael B, Silburn, S., Silburn, Sven, Johnson Sarah E, Sally A Brinkman, James P Codde, Lawrence David, Straton Judith AY, Brinkman Sally A, David Lawrence, Sarah E Johnson, Michael B Hart, Codde, Jim, Straton, J., Lawrence, David, Brinkman, S., Brinkman, Sally, Sven Silburn, Codde, J., Codde James P   +24 more
core   +2 more sources

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Promoting positive adolescent sexual health & preventing teenage pregnancy - a review of recent effectiveness research

, 2004
This review was commissioned by the Crisis Pregnancy Agency to inform their work in the area of prevention of crisis pregnancy. The review commences with a brief description of the current epidemiological data on teenage pregnancy and adolescent ...
Fullerton, Deirdre
core  

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Análise metafórico-metonímica do processo de constituição do pensamento da saúde pública acerca da adolescente grávida: os anos 60

Cadernos de Saúde Pública
O presente artigo constitui-se num ensaio de análise de um momento histórico do processo de formação do pensamento da saúde pública acerca da adolescente grávida: os anos 60.
Alberto Olavo Advincula Reis
doaj