Results 151 to 160 of about 128,313,875 (298)

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

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Author Correction: Immunogenicity and reactogenicity of SARS-CoV-2 vaccines BNT162b2 and CoronaVac in healthy adolescents

Nature Communications, 2022
Jaime S. Rosa Duque, Xiwei Wang, Daniel Leung, Samuel M. S. Cheng, Carolyn A. Cohen, Xiaofeng Mu, Asmaa Hachim, Yanmei Zhang, Sau Man Chan, Sara Chaothai, Kelvin K. H. Kwan, Karl C. K. Chan, John K. C. Li, Leo L. H. Luk, Leo C. H. Tsang, Wilfred H. S. Wong, Cheuk Hei Cheang, Timothy K. Hung, Jennifer H. Y. Lam, Gilbert T. Chua, Winnie W. Y. Tso, Patrick Ip, Masashi Mori, Niloufar Kavian, Wing Hang Leung, Sophie Valkenburg, Malik Peiris, Wenwei Tu, Yu Lung Lau   +28 more
doaj   +1 more source

Adolescent effective access to sexual and reproductive health and rights in sub-Saharan Africa: a systematic review of legal, institutional and sociocultural barriers. [PDF]

BMJ Public Health
Baman D, Kongnyuy E, Djanda L, Sia M, Siogue T.   +4 more
europepmc   +1 more source

Financing of adolescent health and wellbeing in Bangladesh, Ethiopia and Nigeria: a case study of the Global Financing Facility. [PDF]

BMC Glob Public Health
Biermann O, Lindquist E, Mitu K, Olumide A, Oyetunde O, Yadete W, Bylund S, Luckenbill S, Claeson M, Baird S.   +9 more
europepmc   +1 more source

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

Latent Structure and Incremental Validity of the Semi-Structured Interview for Personality Functioning DSM-5 (STiP-5.1) in a Lithuanian Adolescent Sample. [PDF]

Personal Ment Health
Grigaitė A, Gaudiešiūtė E, Hutsebaut J, Barkauskienė R.   +3 more
europepmc   +1 more source

Obesity‐Related Inflammation Masks Iron Deficiency in US Women

American Journal of Hematology, EarlyView.
Sixtus Aguree, Sai Chakrri Tadikonda
wiley   +1 more source

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

Adolescent ethanol exposure reduces central amygdala GABA transmission but preserves noradrenergic signaling in adulthood. [PDF]

Neuropharmacology
Marsland P, Penta PT, Towner TT, Coleman HJ, Liss A, Varlinskaya EI, Werner DF, Varodayan FP.   +7 more
europepmc   +1 more source