Results 121 to 130 of about 35,518 (269)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Associations between inclusivity norms and tolerance, contact, and cooperation amid polarization: Evidence from 12 European countries. [PDF]

PNAS Nexus
Schäfer LF, Tausch N, Bukowski M, Jaspers E, Lubbers MJ, van Zalk M, Ciordia A, Potoczek A, Estevan-Reina L, Shani M, Simons JW, Friehs MT, Gurbisz D, Middendorf W, Schäfer SJ, Ullenboom J, Graf S, Hjerm M, Lavest C, Jasinskaja-Lahti I, Kende A, Petkanopoulou K, Prati F, Christ O.   +23 more
europepmc   +1 more source

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

Correction: Enhancing LGBTQ+ Inclusivity in an AI-Powered Sexual Health Chatbot: User-Centered Design Approach Through a Nonprofit and Academic Partnership. [PDF]

J Med Internet Res
Liem WW, Casline E, Lorenzo J, Gordon JD, Avila AA, Taylor A, Levitz N, O'Keefe MC, Shum K, Macapagal K.   +9 more
europepmc   +1 more source

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen, Elleke Tissink, Reeteka Sud, Mandy Johnstone, Richard Josiassen, Andrea Lahti, Laura Huckins, Ariana Page, Stigma Reduction Interest Group of the ISPG, Jordan W. Smoller, Jehannine Austin, Janneke Zinkstok, Sarah E. Medland, Rada Veeneman, Anna R. Docherty   +14 more
wiley   +1 more source

Inclusion and exclusion in gaming communities: a systematic review and future directions to increase inclusivity. [PDF]

Front Psychol
Argaman Y, Gur T, Heller B, Maaravi Y.
europepmc   +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

Adaptation and validation of an influenza a subtyping panel for detection of H1pdm09, H3 and H5 on a high-throughput RT-qPCR system. [PDF]

Sci Rep
Giersch K, Nörz D, Grunwald M, Tang HT, Pflüger LS, Pfefferle S, Pohlmann A, Beer M, Aepfelbacher M, Harder T, Lütgehetmann M.   +10 more
europepmc   +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

Towards a more inclusive psychiatry: diversity among presenters and participants in the 25th World Congress of Psychiatry. [PDF]

World Psychiatry
Pinto da Costa M, Dragasek J, Iosue M, Kasparek T, Mohr P, Nyametie M, Wiffen H, Wasserman D.   +7 more
europepmc   +1 more source