Results 101 to 110 of about 99,930 (228)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

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

Keyword density in website body text: search engine spamdexing

, 2010
Millions of webpages are being submitted daily for indexing to search engines. As a result of websites increasingly being utilized as marketing tools, website designers and SEO practitioners are implementing various keyword strategies on their webpages ...
Weideman, Melius, Zuze, Herbert
core  

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Mechanochemistry Meets Catalysis: Metal Complexes for Greener Organic Transformations

Angewandte Chemie, EarlyView.
Mechanochemistry is redefining metal catalysis by controlling catalyst formulation, speciation, and deployment. This Review shows how milling, LAG, RAM, and TSE enable rapid metal‐complex assembly, distinctive catalytic manifolds, and scalable synthesis beyond solution chemistry.
Sourav Behera, Francesco Basoccu, Andrea Porcheddu   +2 more
wiley   +2 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

Australian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton, Tania Signal, Jenni A. Judd   +2 more
wiley   +1 more source

Shifting Child Protection Assessments From a Deficit Focus to Assessments Informed by Strengths and Protective Factors: Translating Research Knowledge to Practice

Australian Journal of Social Issues, EarlyView.
ABSTRACT Child protection systems play a critical role in preventing and responding to child maltreatment, yet practices are often predominantly deficit focused. This paper presents a rapid literature review on the strengths, protective factors, and cultural considerations to inform child protection assessment.
Gabrielle R. Hunt, Carmela Bastian, Luke Cantley, Ulrike Marwitz, Daryl J. Higgins   +4 more
wiley   +1 more source

Systemic Corticosteroids in the Management of Sinonasal Disease: An Evidence‐Based Expert Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a prevalent, heterogeneous inflammatory disease associated with significant morbidity. Systemic corticosteroids (SCS) are commonly prescribed for their anti‐inflammatory effects, but cumulative exposure carries risks, including metabolic, cardiovascular, and skeletal complications.
Andrew Thamboo, Deanna Gigliotti, Eugenio De Corso, Stella Lee, Benjamin S. Bleier, Christopher J. Chin, Marie‐Noelle Corriveau, Valerie Hox, Claire Hopkins, Peter H. Hwang, Arif Janjua, Ludger Klimek, Daniel Lee, John Lee, Amber Luong, Geoffrey Mortuaire, Joaquim Mullol, Zara M. Patel, John Scott, Doron Sommer, Leigh Sowerby, Marc Tewfik, Beatrice Voizard, Martin Wagenmannm, Sarah K. Wise, Jonathan Yip, Quirina Thompson, Martin Desrosiers, Yvonne Chan   +28 more
wiley   +1 more source