Results 51 to 60 of about 125,272 (358)

Pigmentary Mosaicism: An Overview

JEADV Clinical Practice
Mosaicism refers to an individual who developed from a single fertilised egg but has two or more populations of cells with a different genotype as a result of a postzygotic mutation.
C. Colmant, E. Legius, N. Cattaert, M.‐A. Morren   +3 more
doaj   +1 more source

Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia [PDF]

, 2019
Introduction Chromosomal abnormalities are frequent events in hematological malignancies. The degree of HLA compatibility between donor and recipient in hematopoietic stem cell transplantation is critical.
Breman, Amy M., Britton, Rebecca M., Cui, Connie P., Farag, Sherif S., Kashi, Zahra, Krueger-Sersen, Mary, Littrell, Courtney A., Lobashevsky, Andrew L., Martin, Russ K., Singh, Susmita, Vance, Gail H.   +10 more
core   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Maternal XX/X chromosome mosaicism in donor oocyte in vitro fertilization (IVF)

Middle East Fertility Society Journal, 2012
Objective: To evaluate if the degree of maternal X chromosome mosaicism is correlated to the pregnancy loss rate in donor oocyte IVF in women with a Turner syndrome mosaic (TS-Mosaic) diagnosis. Design: Prospective trial. Patients and methods: Women with
Paul R. Brezina, Mindy S. Christianson, Khanh-Ha D. Nguyen, Andrew Siegel, Andrew T. Benner, William G. Kearns   +5 more
doaj   +1 more source

Genetic Normalization of Differentiating Aneuploid Human Embryos [PDF]

, 2011
Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Andrew Barker, Andrew Benner, Garry Cutting, Kevin Richter, Khanh-Ha Nguyen, Paul Brezina, Raymond Anchan, Ric Ross, William Kearns   +8 more
core   +1 more source

Simple Mathematical Model Of Pathologic Microsatellite Expansions: When Self-Reparation Does Not Work

, 2007
We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. We prove that if the probabilities of elementary expansions and contractions are equal, microsatellite ...
Amos, Angers, Barton, Bell, Boris Veytsman, Brinkmann, Brock, Brunner, Calabrese, Calabrese, Cleary, de Gennes, Di Rienzo, Ellegren, Ellegren, FitzSimmons, Garza, Goldstein, Gomes-Pereira, Harper, Harr, Huang, Kayser, Kruglyak, Kruglyak, Lai, Lai, Lai, Leila Akhmadeyeva, Libby, Makova, Mirkin, Monckton, Nielsen, Painter, Pearson, Pearson, Piñeiro, Primmer, Primmer, Schlötterer, Shinde, Shriver, Sibly, Sibly, Tachida, Whittaker, Xu, Yang   +48 more
core   +1 more source

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

BMC Medical Genomics, 2021
Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism.
Na Ma, Hui Xi, Jing Chen, Ying Peng, Zhengjun Jia, Shuting Yang, Jiancheng Hu, Jialun Pang, Yanan Zhang, Rong Hu, Hua Wang, Jing Liu   +11 more
doaj   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Genetic Dissection of the Drosophila Nervous System by means of Mosaics [PDF]

, 1970
Given a mutant having abnormal behavior, the anatomical domain responsible for the deficit may be identified by the use of genetic mosaicism. Individuals may be produced in which a portion of the body is mutant male while the rest is normal female.
Benzer, Seymour, Hotta, Yoshiki
core   +1 more source