Results 41 to 50 of about 9,097 (228)

Low-degree trisomy 21 mosaicism promotes early-onset Alzheimer disease

Neurobiology of Aging, 2021
Trisomy-21 mosaicism (mT21) with subclinical intellectual development disorder or physical phenotype has very rarely been associated with early-onset cognitive decline. Notably, early-onset Alzheimer's disease (EOAD) patients' family histories frequently suggest genetic causes other than autosomal-dominant APP/PSEN-1/2 mutations.
Georg S. Nuebling, Catharina Prix, Matthias Brendel, Leonie Beyer, Elisabeth Wlasich, Sandra V. Loosli, Henryk Barthel, Osama Sabri, Peter Bartenstein, Jonathan Vöglein, Adrian Danek, Axel Rominger, Dieter Edbauer, Christian Haass, Johannes Levin   +14 more
openaire   +3 more sources

Innovative method for reducing uninformative calls in non-invasive prenatal testing [PDF]

, 2018
Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable ...
Budis, Jaroslav, Duris, Frantisek, Gazdarica, Juraj, Gazdaricova, Iveta, Harsanyova, Maria, Kucharik, Marcel, Minarik, Gabriel, Nagy, Balint, Radvanszky, Jan, Sekelska, Martina, Strieskova, Lucia, Szemes, Tomas, Szucs, Gabor, Turna, Jan   +13 more
core   +2 more sources

Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis low-level mosaic trisomy 17 with maternal uniparental disomy (UPD) 17 at amniocentesis in a pregnancy with a favorable outcome. Materials and methods: A 40-year-old, primigravid woman underwent amniocentesis at 18
Chih-Ping Chen, Shin-Yu Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang   +7 more
doaj   +1 more source

Cytogenetic contribution to uniparental disomy (UPD) [PDF]

, 2010
Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with or due to a chromosomal rearrangement.
Thomas Liehr
core   +1 more source

Chromosomal in situ suppression hybridization of immunologically classified mitotic cells in hematologic malignancies [PDF]

, 1992
Chromosomal in situ suppression (CISS) hybridization was performed with library DNA from sorted human chromosomes 8, 9, 15, 17, 21, and 22 on immunologically stained bone marrow cells of four patients with a hematologic neoplasm, including two patients ...
Arnoldus, Cremer, Cremer, Dauwerse, Edwards, Erber, Hopman, Johnson, Jotterand Bellomo, Knuutila, Knuutila, Larramendy, Larramendy, Lichter, Lichter, Marianne Tiainen, Martine Jotterand Bellomo, Patricia Emmerich, Perez Losada, Pinkel, Pinkel, Popp, Sakari Knuutila, Susanne Popp, Tapani Ruutu, Teerenhovi, Thomas Cremer, Valerie Parlier, Wessman, Willard   +29 more
core   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Chromosome microarray analysis as first-line test in pregnancies with a priori low risk for detection of submicroscopic chromosomal abnormalities [PDF]

, 2012
n this study, we aimed to explore the utility of chromosomal microarray analysis (CMA) in groups of pregnancies with a priori low risk for detection of submicroscopic chromosome abnormalities, usually not considered an indication for testing, in order to
A Breman, A Duncan, A Rauch, A Vetro, ACOG committee, Andrea Nuccitelli, Anthony Gordon, BA Bejjani, BB de Vries, BB Roa, BS Emanuel, C Le Caignec, CM Ogilvie, CN Lee, DT Miller, E Pergament, E Shuster, F Fiorentino, F Vialard, Fiorina Caiazzo, Francesco Fiorentino, G McGillivray, Giuseppe Rizzo, I Maya, IB Van den Veyver, J Coppinger, JM Friedman, K Metcalfe, L Armengol, L Kleeman, L Rickman, LE Vissers, Letizia Spizzichino, LG Shaffer, LG Shaffer, LG Shaffer, LG Shaffer, M Srebniak, M Strassberg, MA Crackower, Mariateresa Sessa, Marina Baldi, P Stankiewicz, R Hochstenbach, RJ Wapner, S Darilek, Sara Bono, SC Hillman, SJ Park, Stefania Napoletano, SW Cheung, T Sahoo, TH Bui, W Bi, X Lu   +54 more
core   +1 more source

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Regular G21-trisomy in 3 sibs from mother with trisomy 21 mosaicism. [PDF]

Journal of Medical Genetics, 1977
This paper describes a family with 3 affected sibs with regular trisomy 21 Down syndrome. The condition seems to be transmitted from a phenotypically normal mother in whom G-trisomy mosaicism was identified. Giemsa banding depicted trisomy 21 mosaicism in cells from the mother. Chromosomes from the children showed a trisomy 21 in all the cells analysed.
A, Osuna, A, Moreno
openaire   +2 more sources

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH [PDF]

, 2010
Background Microarray-based comparative genomic hybridization (aCGH) is a powerful diagnostic tool for the detection of DNA copy number gains and losses associated with chromosome abnormalities, many of which are below the resolution of ...
Nicholas J Neill, Beth S Torchia, Bassem A Bejjani, Lisa G Shaffer, Blake C Ballif   +4 more
core   +2 more sources