Results 61 to 70 of about 38,783 (308)

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]

, 2000
The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Martorell, L., Monckton, D.G., Loreto Martorell, José Gamez, Gamez, J., Baiget, M., Darren G Monckton, Montserrat Baiget   +7 more
core  

Confined placental mosaicism in short term culture

, 2016
Finding of fetal chromosomal mosaicism complicates genetic counseling, as well as pregnancy management. The aim of this study was to determine the risk of confined placental mosaicism in short term culture of chorionic villous samples.
Jelena Dukanac-Stamenkovic, Bojana Petrovic   +1 more
core   +1 more source

Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy [PDF]

, 2021
OBJECTIVE: To compare mosaicisms in prenatal chorionic villus samples (CVSs) with corresponding postpartum placental samples.METHOD: We collected placentas from 15 consecutive cases of mosaicism detected in CVSs and obtained five standardized samples on ...
Astrid Petersen, Naja Becher, Else M. Vestergaard, Bogaard, Pauline, Becher, Naja, Vestergaard, Else Marie, Lund, Ida C.Bay, Pauline Bogaard, Dorte L. Lildballe, Graakjaer, Jesper, Jesper Graakjaer, Petersen, Astrid, Lund, Ida C Bay, Vestergaard, Else M., Vestergaard, Else M, Vogel, Ida, Ida C. Bay Lund, Lund, Ida Charlotte Bay, Lildballe, Dorte, Niels Uldbjerg, Ida Vogel, Lildballe, Dorte L, Uldbjerg, Niels, Lildballe, Dorte L.   +23 more
core   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Could the mosaic pattern of chromosomal abnormality predict overall survival of patients with myelodysplastic syndrome?

Hematology/Oncology and Stem Cell Therapy, 2016
Objective/background: Myelodysplastic syndromes (MDSs) are a group of monoclonal hematopoietic diseases consisting of a number of various entities.
Mehmet Sevki Uyanik, Ahmet Muzaffer Demir, Idris Kurt, Muhammet Maden, Fulya Oz Puyan, Hakan Gurkan, Elif Gulsum Umit, Gulsum Emel Pamuk   +7 more
doaj   +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

ON MOSAIC CRYSTALS

Proceedings of the National Academy of Sciences, 1929
Very little progress has been made during the last decade toward a theoretical understanding of the physical properties of matter in the solid state. The reasons for this stagnation are very clearly presented in a recent paper by A. Smekal.(1) According to Smekal, the properties of solids can be arranged in two large groups as follows.
openaire   +3 more sources

Inherited Aneuploidy: Germline Mosaicism

, 2011
Germline mosaicism has been thought to be a rare cause of aneuploidy in the human population. Recent evidence from cytological and population studies suggests otherwise.
J.D.A. Delhanty
core   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq

BMC Pregnancy and Childbirth
Background The aim of this study was to investigate the detection capability of medium-coverage whole-genome sequencing for chromosomal mosaicism in prenatal diagnosis, and to evaluate the pregnancy outcome of mosaicism.
Jiazhen Chang, Mengmeng Li, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Yan Lü, Qingwei Qi   +7 more
doaj   +1 more source