Zobrazeno 1 - 10
of 2 374
pro vyhledávání: '"Chromosome 13"'
Publikováno v:
The Application of Clinical Genetics, Vol Volume 15, Pp 145-151 (2022)
Hanna Moczulska,1 Michal Pietrusinski,1 Marcin Serafin,1 Beata Skoczylas,1 Piotr Sieroszewski,2 Maciej Borowiec1 1Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland; 2Department of Fetal Medicine and Gynecology, Medical Univers
Externí odkaz:
https://doaj.org/article/e6855d3c00974b149845f49b2618c7ba
Autor:
Amanda de Souza Schlosser, Giovani José Coury Costa, Henrique Salmazo da Silva, Juan Luca Menezes de Mello, Lucy de Oliveira Gomes, Marina Michalski Oliveira Onoyama, Tatiana Martins Coury Costa
Publikováno v:
Revista Paulista de Pediatria, Vol 41 (2023)
ABSTRACT Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. Case description: This case report
Externí odkaz:
https://doaj.org/article/140097e0918c4aa1a54abb73c9f26f26
Autor:
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Wen-Lin Chen, Meng-Shan Lee, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 4, Pp 771-774 (2021)
Objective: We present prenatal diagnosis of recurrent mosaic ring chromosome 13 [r(13)] of maternal origin. Case Report: A 27-year-old woman underwent amniocentesis at 17 weeks of gestation because of a past history of fetal abnormality caused by mos
Externí odkaz:
https://doaj.org/article/7748c5552962498ca5762d5150173687
Publikováno v:
Van Tıp Dergisi, Vol 28, Iss 1, Pp 44-50 (2021)
INTRODUCTION: Multiple myeloma (MM) is a malignant hematological disease characterized by malignant proliferation of a single plasma cell clone leading to monoclonal protein in plasma or urine. Presence of monoallelic loss of chromosome 13 (del13) or
Externí odkaz:
https://doaj.org/article/e5c04109ff0f4aaba9557bb5c162c3cf
Publikováno v:
Clinical Case Reports, Vol 8, Iss 8, Pp 1461-1466 (2020)
Abstract In the age of noninvasive prenatal testing, there is still an important role for invasive prenatal diagnosis, even for chromosomes 13, 18, and 21.
Externí odkaz:
https://doaj.org/article/aad1b37c40cf4f579c129d28351048d8
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background 13q33–q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evide
Externí odkaz:
https://doaj.org/article/a7c9e45cd20e4f8dab65b732ecc0faa5
Autor:
Agueda Rostagno, Miguel Calero, Janice L. Holton, Tamas Revesz, Tammaryn Lashley, Jorge Ghiso
Publikováno v:
Neurobiology of Disease, Vol 158, Iss , Pp 105452- (2021)
Familial British and Danish dementias (FBD and FDD) share striking neuropathological similarities with Alzheimer's disease (AD), including intraneuronal neurofibrillary tangles as well as parenchymal and vascular amyloid deposits. Multiple amyloid as
Externí odkaz:
https://doaj.org/article/54b457bb84c94036aa620a214cf29cfe
Akademický článek
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Autor:
Donatella Conconi, Nicoletta Villa, Serena Redaelli, Elena Sala, Francesca Crosti, Silva Maitz, Miriam Rigoldi, Rossella Parini, Leda Dalprà, Marialuisa Lavitrano, Gaia Roversi
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-6 (2018)
Abstract Background Copy number variations (CNVs) are largely known today, but their position is rarely established by fluorescence in situ hybridization (FISH) or karyotype analysis. Case presentation We described two families with copy number gain
Externí odkaz:
https://doaj.org/article/b346f44081f34de98006d036bbd1bbb0
Publikováno v:
PAMJ Clinical Medicine, Vol 1, Iss 60 (2019)
L'ambigüité sexuelle ou trouble de différenciation sexuelle est connue pour être associée à des troubles du chromosome sexuel mais peut également être associée à des anomalies chromosomiques autosomiques. Nous rapportons un cas de chromosom
Externí odkaz:
https://doaj.org/article/49567200546e43ca91e0b9054a73dfff