Results 181 to 190 of about 68,587 (225)

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

A Novel CFA3 Locus Encompassing <i>KCNIP4</i> Is Associated with Idiopathic Epilepsy in Siberian Huskies. [PDF]

Genes (Basel)
Smith TA, Potisk L.
europepmc   +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

Acquisition of ampliconic sequences marks a selfish mouse t-haplotype. [PDF]

Nat Commun
Swanepoel CM, Wang G, Zhang L, Brändl B, Bauer H, Tsaytler P, Müller FJ, Herrmann BG, Mueller JL.   +8 more
europepmc   +1 more source

Human CPAP and CP110 in centriole elongation and ciliogenesis [PDF]

, 2010
Schmidt, Thorsten
core  

Establishment of Salivary Gland Tumors Arising in Salivary Gland‐Specific EWSR1::ATF1 Transgenic Mice

Head &Neck, EarlyView.
ABSTRACT Background Salivary gland carcinomas are uncommon malignancies with various histological subtypes harboring fusion genes. The EWSR1::ATF1 fusion gene, resulting from a translocation between chromosomes 12 and 22, is frequently observed in hyalinizing clear cell carcinoma (HCCC). However, the role of this fusion gene in HCCC oncogenesis remains
Yuri Hirai, Yoshitaka Utsumi, Daisuke Sano, Tatsu Kuwahara, Yoshihiro Aizawa, Takashi Hatano, Hisashi Hasumi, Yutaro Soejima, Tatsukata Kawagoe, Ryosuke Jikuya, Nobuhisa Mizuki, Satoshi Fujii, Toshitaka Nagao, Nobuhiko Oridate   +13 more
wiley   +1 more source

Chromosome segregation synchrony in S. pombe is noise limited and arises without positive feedback. [PDF]

J Cell Biol
Williams W, Phan K, Chen J, Legewie S, Kamenz J, Hauf S.   +5 more
europepmc   +1 more source

Condensin IDC has a functional ATPase that is required for X-Chromosome dosage compensation in C. elegans. [PDF]

Genetics
Chawla B, Jatia S, Sloan D, Eduful J, Mendoza H, McClear CA, Tran J, Csankovszki G.   +7 more
europepmc   +1 more source

Boundary-associated propagation of a processed pseudogene dissects pre-existing limitations of genome annotation in the T2T era. [PDF]

Mob DNA
Lee MG.
europepmc   +1 more source

Local genetic correlations between systemic sclerosis and common cancer types. [PDF]

PLoS One
Patasova K, Che WI, Westerlind H, Diaz-Gallo LM, Holmqvist M.   +4 more
europepmc   +1 more source