Results 81 to 90 of about 909,686 (291)

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

Influence Factors of Reproductive Organ Maintenance Among Adolescent Girls in Coastal Areas

Jurnal Kesehatan
Adolescent girls are vulnerable to reproductive health problems such as vaginal discharge and reproductive tract infections, which are triggered by poor maintenance of their reproductive organs.
Armyla Eka Wahyu Yuliani, Lu'lu Nafisah, Bambang Hariyadi   +2 more
doaj   +1 more source

Frequency Of Sexual Activity Among Unmarried Adolescent Girls: Do State Policies Pertaining To Abortion Access Matter? [PDF]

While considerable research exists on whether abortion restrictions affect adolescents’ demand for abortions, less work has been done about whether such restrictions deter pregnancy-risk behavior among adolescents.
Bisakha Sen
core  

‘Empowerment’ of adolescent girls and young women in Kinshasa: research about girls, by girls

, 2016
In mid-2015, a team of 15 Congolese ‘girl researchers’ were recruited, trained, and mentored by the UK’s Department for International Development-funded La Pépinière programme. They conducted peer-to-peer research to explore the experiences, perceptions,
Lyndsay Mclean (4461670), McLean, Lyndsay, Modi, Anny T., Anny T Modi (16243178)   +3 more
core   +1 more source

From Cognitive Processing to Daily Functioning: Language, Visuomotor Integration, and Adaptive Behavior in Children With Coffin‐Siris Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Studying Mendelian neurodevelopmental disorders (NDDs) from a bottom‐up perspective, in which neurocognitive functioning is conceptualized as a mediator between genotype and behavioral phenotype, may facilitate early identification of syndrome‐specific vulnerabilities.
Myrthe R. M. Kamphof, Sophie van Rijn, Gijs W. E. Santen, Hanna Swaab   +3 more
wiley   +1 more source

Forced displacement, household composition, and mental health: how gendered family structures relate to adolescent girls’ well-being

BMC Public Health
Background Venezuelan migrants in South America are at heightened risk for mental distress due to factors such as discrimination, unstable employment, and gender-based violence (GBV).
Lindsay Stark, Arturo Harker Roa, Carolina Rodriguez, Elvia Tamaity Ariza Pena, Julianne Deitch, Ilana Seff   +5 more
doaj   +1 more source

Passing as “Normal”: Adolescent Girls’ Strategies for Escaping Stigma of Premarital Sex and Childbearing in Ghana

SAGE Open, 2018
Premarital sex and premarital childbearing is a source of stigma in many African communities and can negatively affect adolescent girls’ sexual and reproductive health experiences.
Sylvia Esther Gyan
doaj   +1 more source

Atypical X‐Linked Severe Combined Immunodeficiency in a Patient With Early‐Onset Inflammatory Bowel Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Primary immunodeficiency disorders may present with gastrointestinal inflammation resembling inflammatory bowel disease (IBD), particularly in patients with pediatric or very‐early‐onset disease. We report a 24‐year‐old male with lifelong immune dysregulation and early‐onset IBD who was ultimately found to carry a hemizygous intronic IL2RG ...
Agustina Fainguersch, Jennah Foltz, Theodore E. Wilson, Sydney A. Lau, Xiaonan Zhao, Casey A. Thornton, Morgan Driver, Jay Jun‐Hong Jin, Jean P. Molleston, Xiaoyi Zhang   +9 more
wiley   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source