Results 71 to 80 of about 124,379,666 (230)

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Embarazada con neurofibromatosis tipo 1

Revista de Ciencias Médicas de Pinar del Río, 2016
La neurofibromatosis tipo 1 es una enfermedad genética, de transmisión autosómica, dominante, con 100% de penetrancia y expresividad variable, correspondiendo la mitad de los casos a mutaciones de novo.
Amado Antonio García Odio, Yanisel Rives González, Ana Ivis Reina Arroyo, Daymeris Álvarez Bolívar   +3 more
doaj  

An ShRNA Screen Identifies MEIS1 as a Driver of Malignant Peripheral Nerve Sheath Tumors

EBioMedicine, 2016
Malignant peripheral nerve sheath tumors (MPNST) are rare soft tissue sarcomas that are a major source of mortality in neurofibromatosis type 1 (NF1) patients.
Ami V. Patel, Katherine E. Chaney, Kwangmin Choi, David A. Largaespada, Ashish R. Kumar, Nancy Ratner   +5 more
doaj   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Molecular Genetics & Genomic Medicine, 2020
Background RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectrum ...
Leora Witkowski, Mitchell W. Dillon, Elissa Murphy, Matthew SLebo, Heather Mason‐Suares   +4 more
doaj   +1 more source

Familial Cancers Associated With Cancers of the Breast, Prostate, Colorectum, and Lung in Sweden

International Journal of Cancer, EarlyView.
ABSTRACT Available epidemiological evidence shows that many cancers share familial risks, and this is increasingly confirmed by data on shared pathogenic germline gene variants between cancers. We decided to harness the world's largest resource on familial cancer to assess discordant familial risks for female breast (BC), prostate (PC), colorectal (CRC)
Frantisek Zitricky, Kristina Sundquist, Jan Sundquist, Akseli Hemminki, Asta Försti, Kari Hemminki   +5 more
wiley   +1 more source

Neurofibromatosis segmentaria, a propósito de un caso

, 2022
Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease.
Dufflart Ocampo, Juan David, Sáenz Corral, Claudia Ileana, Ruiz Gómez, Daniela, Vega Memija, María Elisa, Armendariz Barragán, Yonatan, Toussaint Caire, Sonia   +5 more
core   +1 more source

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Biallelic Mismatch Repair Deficiency in an Adolescent Female

Case Reports in Genetics, 2018
Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life.
Amber Hildreth, Mark A. Valasek, Irene Thung, Thomas Savides, Mamata Sivagnanam, Sonia Ramamoorthy, Sherry Huang   +6 more
doaj   +1 more source

When genetics disrupt the gut: Dysmotility and ganglioneuromatosis in multiple endocrine neoplasia type 2B syndrome

JPGN Reports, EarlyView.
Abstract Multiple Endocrine Neoplasia type 2B (MEN2B) is a rare hereditary cancer syndrome characterized by medullary thyroid carcinoma, mucosal neuromas, and pheochromocytoma. Gastrointestinal involvement is common and often manifests as diffuse intestinal ganglioneuromatosis (IGN), which can impair motility and lead to severe constipation, pseudo ...
Aldo Majluta Yeb, Alexander Nasr, Ajay Kaul   +2 more
wiley   +1 more source