Results 141 to 150 of about 24,510 (263)

Chromosome Band [PDF]

, 2020
openaire   +1 more source

Karyotype evolution of multiple myeloma. [PDF]

J Clin Exp Hematop
Matsumoto Y, Ichimura T, Harukawa J, Fujioka K, Suzuki H, Nonaka K, Muramatsu A, Sugitani M, Kobayashi T, Iwai T, Uchiyama H.   +10 more
europepmc   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

ImageNet pre-training and two-step transfer learning in chromosome image classification. [PDF]

Sci Rep
Chen T, Xie C, Zhang W, Li Y, Ke W, Li T, Huang X, Li K.   +7 more
europepmc   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). I. Treatments in preclinical and early clinical development

Epilepsia, EarlyView.
Abstract Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3 ...
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa. [PDF]

Mol Cytogenet
Deng J, Liu M, Liu X, Meng X, Yang Y, Wang Y, Zhou L, Deng A, Liu J.   +8 more
europepmc   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

The clinical relevance of sole loss of chromosome Y in myeloid neoplasms. [PDF]

Blood Cancer J
Huber S, Hutter S, Meggendorfer M, Pohlkamp C, Haferlach T, Summerer I.   +5 more
europepmc   +1 more source

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

Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion. [PDF]

Mol Cytogenet
Kawamura R, Shichiri Y, Suzuki H, Murase Y, Naru Y, Hara T, Tsuboi A, Satano H, Sugihara E, Kurahashi H.   +9 more
europepmc   +1 more source