Results 191 to 200 of about 3,829,242 (325)

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Biological psychiatry proceedings of the ... World Congress of Biolog. Psychiatry ... [PDF]

, 1986
World Congress of Biological Psychiatry, Shagass, Charles   +1 more
core  

Social versus biological psychiatry: It’s time for integration!

International Journal of Social Psychiatry, 2018
C. de Rosa, G. Sampogna, M. Luciano, V. del Vecchio, M. Fabrazzo, A. Fiorillo   +5 more
semanticscholar   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Biological definitions, causality, and reductionism in psychiatry [PDF]

The main focus of this thesis is the project of biological psychiatry to classify psychiatric conditions, such as schizophrenia and depression, on the basis of biological features—as opposed to psychological and behavioural features, which constitute the
Ambriz Gonzalez, Rafael
core  

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source

From Stress Sensitization to Microglial Priming and Vice Versa: A New Era of Research in Biological Psychiatry. [PDF]

Biol Psychiatry, 2019
Dantzer R.
europepmc   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Direct Regioselective para‐Fluorination via I(I)/I(III) Catalysis

Angewandte Chemie, EarlyView.
A direct, para‐selective fluorination by I(I)/I(III) catalysis is disclosed that does not require substrate pre‐functionalization. This strategy leverages the Leonard link inherent to phenylpropanoate and phenylpropanamides to promote a spirocyclization/para‐selective sequence. The C3‐side chain maps onto a range of common drug scaffolds and allows the
Christoph Roblick, Julian D. Bendix, Timothy A. Hilton, Kathrin Bussmann, Constantin G. Daniliuc, Ryan Gilmour   +5 more
wiley   +2 more sources