Results 31 to 40 of about 68,433 (279)

Abnormal Action Potentials Associated with the Shaker Complex Locus of Drosophila [PDF]

, 1981
Intracellular recordings of action potentials were made from the cervical giant axon in Shaker (Sh) mutants and normal Drosophila. The mutants showed abnormally long delays in repolarization.
Ferrus, Alberto, Fujita, Shinobu C., Tanouye, Mark A.   +2 more
core   +1 more source

Dynamic clonal progression in xenografts of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21 [PDF]

, 2018
Intrachromosomal amplification of chromosome 21 is a heterogeneous chromosomal rearrangement occurring in 2% of childhood precursor B-cell acute lymphoblastic leukemia.
Bashton, Matthew, Blair, Helen H., Buechler, Lars, Carey, Peter, Cheng, Joanna, Clayton, Jake, Halsey, Christina, Hanna, Rebecca, Harrison, Christine J., Hawking, Zoe, Heidenreich, Olaf, Hollern, Shaun, Jones, Lisa, Marr, Helen, Moorman, Anthony V., Russell, Lisa J., Ryan, Sarra L., Schwab, Claire J., Sinclair, Paul B.   +18 more
core   +3 more sources

Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

Frontiers in Cellular Neuroscience, 2020
Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem ...
Yohei Hayashi, Miho Takami, Mami Matsuo-Takasaki   +2 more
doaj   +1 more source

Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report

Rwanda Medical Journal, 2023
INTRODUCTION: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive pregnancy losses before the 20th week of gestation. RSA is often idiopathic, but structural chromosomal abnormality is an important cause.
N. Dukuze, B. Tuyishimire, H. Irere, B. Iradukunda, J. Ndinkabandi, C. Nsanzabaganwa, J. Mushingantahe, L. Mutesa   +7 more
doaj   +2 more sources

Detection of monosomy 7 in interphase cells of patients with myeloid disorders [PDF]

, 1990
Six patients, five with acute myeloid leukemia (AML) and one with a myelodysplastic syndrome (MDS), were found to have monosomy 7 by conventional cytogenetics at diagnosis.
Cremer, Thomas, Gezer, Sefer, Kolluri, Rukmini V., Manuelidis, L., Raza, Azra, Sait, Sheila   +5 more
core   +1 more source

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A., Abalı, S., Adal, E., Akın, L., Akıncı, A., Akyürek, N., Andıran, N., Anık, A., Atabek, M.E., Ataş, A., Aydın, B.K., Açıkel, C., Baş, F., Baş, S., Baş, V.N., Bereket, A., Binay, Ç., Bolu, S., Bondy, C., Bulan, K., Büyükinan, M., Can, H.D., Cinaz, P., Darcan, Ş., Darendeliler, F., Demir, K., Demirbilek, H., Demirel, F., Doğan, D., Doğan, M., Döneray, H., Dündar, B., Eklioğlu, B.S., Emeksiz, H.C., Ercan, O., Eren, E., Ersoy, B., Evliyaoğlu, O., Fidancı, K., Gökşen, D., Gül, D., Gürbüz, F., Hatun, Ş., Kaba, S., Kara, C., Karagüzel, G., Keskin, M., Kızılay, D., Orbak, Z., Pirgon, Ö., Polat, A., Poyrazoğlu, Ş., Sarı, E., Sağlam, H., Tarım, Ö., Tepe, D., Topaloğlu, A.K., Turan, S., Yeşilkaya, E., Yüksel, B., Çakır, E.D., Çatlı, G., Çelik, N., Çizmecioğlu, F., Ökten, A., Önal, H., Özbek, M.N., Özen, S., Özgen, T., Özhan, Bayram, Özkan, B., Ünüvar, T., Şen, Y., Şimşek, E.   +73 more
core   +1 more source

Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience

International Journal of General Medicine, 2021
Hailong Huang,1,* Meiying Cai,1,* Linyu Liu,1,2 Liangpu Xu,1 Na Lin1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian ...
Huang H, Cai M, Liu L, Xu L, Lin N
doaj  

A Chromosomal Inversion of 46XX, inv (6) (p21.3p23) Connects to Congenital Heart Defects

Frontiers in Cardiovascular Medicine, 2020
Congenital heart defects (CHDs) represent the most common human birth defects. Ventricular septal defect (VSD) is the most common subtype of CHDs. It has been shown that about 20–40% of VSDs are closely related to chromosomal aneuploidies or Mendelian ...
Liangping Cheng, Liangping Cheng, Liangping Cheng, Yanlai Tang, Yuese Lin, Hongjun Ba, Yiqian Ding, Dubo Chen, Min Liu, Peizhen Pan, Youzhen Qin, Zhan-Peng Huang, Zhan-Peng Huang   +12 more
doaj   +1 more source

Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype

Open Life Sciences, 2022
Chromosomal abnormality is one of the important causes of dysplasia in children. However, due to regional and ethnic differences, the reported rates of chromosomal abnormalities in patients with dysplasia vary greatly.
Miao Zong-Yu, Chen Shi-Feng, Wu Hong, Liu Xiao-Yan, Shao Hui-Yuan   +4 more
doaj   +1 more source

Post-Transplant Outcomes in High-Risk Compared with Non-High-Risk Multiple Myeloma: A CIBMTR Analysis. [PDF]

, 2016
Conventional cytogenetics and interphase fluorescence in situ hybridization (FISH) identify high-risk multiple myeloma (HRM) populations characterized by poor outcomes.
Amer Beitinjaneh, Amrita Krishnan, Anita D'Souza, Attal, Avet-Loiseau, Avet-Loiseau, Avet-Loiseau, Baldeep Wirk, Bipin N. Savani, Boyd, Boyd, Chang, Chng, Chng, Cindy Lee, Cristina Gasparetto, Dan Vogl, David Vesole, Emma C. Scott, Fonseca, Fonseca, Fonseca, Gerhard Hildebrandt, Hanamura, Hari, Harousseau, Hebraud, Henry Fung, Hillard Lazarus, Jason Tay, Jean Yared, Jennifer Le-Rademacher, Jiaxing Huang, Joseph Mikhael, Kapoor, Kenneth Meehan, Leona Holmberg, Manish Sharma, Matt Kalaycio, Muneer Abidi, Munshi, Muthalagu Ramanathan, Neben, Nooka, Palumbo, Parameswaran Hari, Richard T. Maziarz, Robert Kyle, Saad Usmani, Shaji Kumar, Shaughnessy, Siddhartha Ganguly, Sonneveld, Taiga Nishihori, Tomer Mark, Usmani, Yago Nieto   +56 more
core   +2 more sources