Results 101 to 110 of about 108,883 (296)

Chromosomal evolution in small mammals (Insectivora, Chiroptera, Rodentia)

Hystrix, the Italian Journal of Mammalogy, 2000
<strong>Abstract</strong> Extensive descriptive, comparative, and experimental research on the chromosomes of natural populations of small mammals has been conducted in the last 50 years.
Jan Zima
doaj   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Aberration found in the Karyotype.

, 2015
Aberration found in the Karyotype.
Laura Peña (4173), Mirtha S. Lopez (711818), Juan C. Illera (711819), Paloma J. de Andres (711816), Sara Caceres (711815), James M. Reuben (170012), Maria J. Illera (711817), Wendy A. Woodward (243750)   +7 more
core   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, Carlotta Stipa, Elisa Mannini, Raffaella Minardi, Barbara Mostacci, Valentina Tontini, Tommaso Pippucci, Francesca Bisulli, Pamela Magini   +10 more
wiley   +1 more source

Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients

Journal of Biomedicine and Translational Research, 2018
Background: Primary amenorrhea (PA) is a symptom that can be caused by different disorders such as gonadal, endocrinal, physiological and genetic disorders.
Aisha Balkhar Ali, Rita Indriyati, Tri Indah Winarni, Sultana MH Faradz   +3 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Three-dimensional genomic characterization of two multiple myeloma patients with normal karyotype and complex karyotype

[Objective] To investigate the functional differences and potential effects of chromatin spatial structure in patients with normal karyotype and complex karyotype multiple myeloma.
ZHANG Kaiji, WANG Yue, LI Yanju, FEI Xiaoli, LIU Xiaoxiao, LEI Lihua, TAO Li, HE Dong, CHEN Mengsi, CHEN Ming, GUAN Xiaohong   +10 more
core   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

The karyotype and the C-band patterns of the Baiji dolphin, Lipotes vexillifer

, 1996
The karyotype and the C-band patterns of the Baiji dolphin (Lipotes vexillifer) was performed on cultures of peripheral leukocytes. The chromosome number of diploid is 44 (2n=44). The karyotype was composed of 12M, 18SM, 4St, 8T and 2 sex chromosome. The
Chen Minrong, Liu Hangqin, Inst. Hydrobiol., Chinese Acad. Sci., Wuhan 430072, China, Chen Daoquan, Guan Zhimei   +3 more
core