Results 91 to 100 of about 963,163 (276)

Acetylene Semi‐Hydrogenation by Photocatalysis

Angewandte Chemie, EarlyView.
Photocatalytic acetylene semi‐hydrogenation is an emerging light‐driven route to polymer‐grade ethylene, offering a mild alternative to energy‐intensive thermocatalysis. By replacing H2 co‐feed with water or other proton sources, these systems can achieve high selectivity under ambient conditions.
Anna Fortunato, Brando Adranno, Sharon Silloni, Marianna Barbieri, Claudia Masia, Francesca Arcudi, Luka Đorđević   +6 more
wiley   +2 more sources

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 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

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
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

Midwifery basics. Infant feeding: anatomy and physiology [PDF]

, 2012
Infant feeding: is the twelfth series of ‘Midwifery basics’ targeted at practising midwives, and aims to raise awareness of the impact on the work of midwives and the woman’s experience of maternity care.
Marshall, Joyce
core   +2 more sources

Approach to Complementary Feeding and Infant Language Use: An Observational Study

Maternal and Child Nutrition
Emerging research suggests that a more infant‐led approach to complementary feeding may confer benefits for child language, but these findings are based on parent report studies.
Claire Farrow, Jacqueline Blissett, Shefu Islam, Rachel Batchelor, Rebecca Norman, Charlotte Webber, Elsa Addessi, Francesca Bellagamba, Amy T. Galloway, Laura Shapiro   +9 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Caregiver Reports on the Needs and Experiences of Children Impacted by Parental Incarceration: Results From an Australian Survey

Australian Journal of Social Issues, EarlyView.
ABSTRACT Children experiencing parental imprisonment are known to be among the most overlooked in our community. They often experience multiple and compounding disadvantages, with long‐term consequences, but receive no specialised assistance. Knowledge about these children and their families is lacking in Australia and is required to inform policy ...
Catherine Flynn, Lana Battaglia, Lorana Bartels, Susan Dennison, Susy Harrigan, Lee Huggins, Sofia Grage‐Moore   +6 more
wiley   +1 more source

Adenosine monophosphate–activated protein kinase activation is associated with suppression of NLRP3 inflammasome–mediated neuroinflammation in a weight‐drop model of traumatic brain injury in Sprague–Dawley rats

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the study's schematic model. Adenosine monophosphate–activated protein kinase (AMPK) activators exhibited neuroprotection in the weight‐drop model of traumatic brain injury by improving cognition and regulating oxidative stress, microglial activation, and nucleotide‐binding oligomerization domain, leucine‐rich repeat,
Triveni Kodi, Paka Sravan Kumar, Krishnadas Nandakumar, Anoop Kishore   +3 more
wiley   +1 more source