Results 151 to 160 of about 23,626,077 (284)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Real-Time Stream Data Anonymization via Dynamic Reconfiguration with <i>l</i>-Diversity-Enhanced SUHDSA. [PDF]

Sensors (Basel)
Lee J, Kim S.
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Parallel privacy preservation through partitioning (P4): a scalable data anonymization algorithm for health data. [PDF]

BMC Med Inform Decis Mak
Halilovic M, Meurers T, Otte K, Prasser F.   +3 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

From Marginal to Central: Marginal Zone‐like B Cells as Critical Targets in Cladribine‐Treated Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) is a chronic autoimmune disease where B cells play a central pathogenic role. Cladribine, an oral therapy, provides durable benefits by reshaping lymphocyte populations, yet its specific long‐term impact on distinct B‐cell subsets is not fully understood.
Marta Pirronello, Mario Picozza, Gisella Guerrera, Silvia Corbisiero, Andrea Misiti, Roberta C. Placido, Alice Verdiani, Lorenzo de Marco, Manolo Sambucci, Elena Olivieri, Daniela F. Angelini, Esmeralda Quartuccio, Luca Prosperini, Carla Tortorella, Maria C. Buscarinu, Valeria Zancan, Francesca de Masi, Marco Salvetti, Claudio Gasperini, Giovanna Borsellino, Luca Battistini   +20 more
wiley   +1 more source

Two Years of Ocrelizumab Treatment in Black and Hispanic People with Multiple Sclerosis in CHIMES: A Single‐Arm Clinical Trial

Annals of Neurology, EarlyView.
Objective To evaluate the effectiveness and safety of ocrelizumab in self‐identified black and Hispanic people with relapsing multiple sclerosis. Methods The Characterization of Ocrelizumab in Minorities with Multiple Sclerosis (CHIMES) trial, a prospective, open‐label, single‐arm, phase 4 study, intentionally recruited underrepresented populations in ...
Lilyana Amezcua, Anthony T. Reder, Evanthia Bernitsas, Nancy L. Monson, Timothy Vartanian, Gregory F. Wu, Mansoor Saleh, Annette Okai, Ahmed Z. Obeidat, Dilraj Sokhi, Rikisha Parekh, Jinglan Pei, Christopher Harp, David Clayton, Ibraheem Abioye, Mitzi J. Williams, for the CHIMES Study Group   +16 more
wiley   +1 more source