Results 41 to 50 of about 22,467,747 (285)

Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia [PDF]

Frontiers in Genetics, 2021
Schizophrenia is a chronic, devastating mental disorder with complex genetic components. Given the advancements in the molecular genetic research of schizophrenia in recent years, there is still a lack of genetic tests that can be used in clinical settings. Chromosomal microarray analysis (CMA) has been used as first-tier genetic testing for congenital
Chia-Hsiang Chen, Chia-Hsiang Chen, Min-Chih Cheng, Tsung-Ming Hu, Lieh-Yung Ping   +4 more
openaire   +3 more sources

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

Case Reports in Genetics, 2014
Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to ...
Adrian Mc Cormack, Juliet Taylor, Leah Te Weehi, Donald R. Love, Alice M. George   +4 more
doaj   +1 more source

Sex genes for genomic analysis in human brain: internal controls for comparison of probe level data extraction.

BMC Bioinformatics, 2003
Background Genomic studies of complex tissues pose unique analytical challenges for assessment of data quality, performance of statistical methods used for data extraction, and detection of differentially expressed genes.
Ellis Steven P, Pavlidis Paul, Smyrniotopoulos Peggy, Erraji-Benchekroun Loubna, Galfalvy Hanga C, Mann J John, Sibille Etienne, Arango Victoria   +7 more
doaj   +1 more source

Genomic profiling using array comparative genomic hybridization define distinct subtypes of diffuse large b-cell lymphoma: a review of the literature

Journal of Hematology & Oncology, 2012
Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin Lymphoma comprising of greater than 30% of adult non-Hodgkin Lymphomas. DLBCL represents a diverse set of lymphomas, defined as diffuse proliferation of large B lymphoid cells ...
Tirado Carlos A, Chen Weina, García Rolando, Kohlman Kelly A, Rao Nagesh   +4 more
doaj   +1 more source

Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report

Children, 2021
Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the core areas of social communication and interaction and restricted, repetitive patterns of behavior, interests or activities.
Giovanna Tritto, Ivana Ricca, Marco Turi, Andrea Gemma, Filippo Muratori, Gioacchino Scarano, Fortunato Lonardo   +6 more
doaj   +1 more source

A Novel Approach Using Microarray Testing as a Screening Method with Clinical Validation Using Whole-Genome Sequencing and Karyotyping for Identifying 46,XX Testicular Differences of Sex Development

Diagnostics
Background: Microarray testing is commonly used as a screening method for phenotypic traits and common diseases and for genome-wide association studies (GWASs).
Takeshi Ozeki, Yuka Nakano, Ayumu Ishigaki, Yoichi Kawashima, Charles W. Crawford, David D. Ordinario, Iri Sato-Baran, Toshihiko Higashida   +7 more
doaj   +1 more source

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population

Molecular Cytogenetics, 2022
Background Chromosome aberrations of 10p monosomy and 10q trisomy resulting from parental pericentric inversion 10 are extremely rare, and to date, very few reports have been published on the matter.
Jianlong Zhuang, Chunnuan Chen, Rongfu Huang, Qi Luo, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie   +7 more
doaj   +1 more source

46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review

Reproductive and Developmental Medicine, 2019
A young boy with a facial abnormality was brought to our genetics clinic. Physical examination found bilateral cryptorchidism. Several clinical genetic tests, including chromosome microarray analysis (CMA), karyotyping, and azoospermia factor (AZF ...
Han-Zhi Wu, Chao Lou, Li Liu, Cui-Yun Qin, Hongmin Yan, Rong Qiang   +5 more
doaj   +1 more source

Spatial and single‐nuclei transcriptomics reveals idiosyncratic and generic patterns in papillary and anaplastic thyroid cancers

Molecular Oncology, EarlyView.
Matched spatial transcriptomics and single‐nuclei RNA‐seq were generated for anaplastic and BRAFV600E papillary thyroid cancers revealing generic and tumor‐specific states occurring in cancer cells and in the tumor microenvironment. In this context, cancer dedifferentiation mirrored organoid maturation through ordered thyroid marker gain/loss ...
Adrien Tourneur, Joel Rodrigues Vitória, Manuel Saiselet, Ligia Craciun, Denis Larsimont, Anne Lefort, Frédérick Libert, Carine Maenhaut, Sabine Costagliola, Maxime Tarabichi, Mirian Romitti, Vincent Detours   +11 more
wiley   +1 more source

Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature

Frontiers in Genetics, 2022
Chimerism is a very rare genetic finding in human. Most reported cases have a chi 46,XX/46,XY karyotype. Only three non-twin cases carrying both trisomy 21 and a normal karyotype have been reported, including two cases with a chi 47,XY,+21/46,XX ...
Chariyawan Charalsawadi, Chariyawan Charalsawadi, Somchit Jaruratanasirikul, Areerat Hnoonual, Areerat Hnoonual, Aussanai Chantarapong, Pornsiri Sangmanee, Sasipong Trongnit, Natini Jinawath, Natini Jinawath, Natini Jinawath, Pornprot Limprasert, Pornprot Limprasert   +12 more
doaj   +1 more source