Results 91 to 100 of about 22,467,747 (285)

Undetectable and Decreased Expression of KIAA1949 (Phostensin) Encoded on Chromosome 6p21.33 in Human Breast Cancers Revealed by Transcriptome Analysis

Journal of Cancer, 2010
Cytogenetic aberration and loss of heterozygosity (LOH) are documented on chromosome 6 in many cancers and the introduction of a neo-tagged chromosome 6 into breast cancer cell lines mediates suppression of tumorigenicity. In this study, we described the
Yan A. Su, Jun Yang, Lian Tao, Hein Nguyen, Ping He
doaj  

Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review

BMC Pediatrics
Background Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features.
Wenjie Sun, Hong Yan, Mengxin Sun, Jie Wang, Kunxia Li   +4 more
doaj   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Microarray sub-grid detection: A novel algorithm [PDF]

, 2007
This is the post print version of the article. The official published version can be obtained from the link below - Copyright 2007 Taylor & Francis LtdA novel algorithm for detecting microarray subgrids is proposed. The only input to the algorithm is the
Liu, X, Wang, Z, Morris, D
core   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

PRKAR positive angiomyxoma

Journal of Pediatric Surgery Case Reports, 2019
Carney complex is a rare multiple neoplasia syndrome characterized by spotty pigmented lesions of the skin, cardiac and non-cardiac myxomas, as well as multiple endocrine tumors.
Giscard Adeclat, Teerin T. Meckmongkol, Rajeev Prasad   +2 more
doaj   +1 more source

Microarray-CGH profiles using CAMVS (Chromosome analyzer and Map Viewer using S plus)

, 2011
Copyright information:Taken from "Genome-wide genetic aberrations of thymoma using cDNA microarray based comparative genomic hybridization"http://www.biomedcentral.com/1471-2164/8/305BMC Genomics 2007;8():305-305.Published online 3 Sep 2007PMCID ...
Woo Ick Yang (82082), Min Young Seo (82085), Chan Hee Park (10086), Gui Youn Lee (82081), Hei Cheul Jeung (82083), Sun Young Rha (32342), Sang Chul Kim (82084), Hyun Cheol Chung (32341)   +7 more
core   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up

Molecular Cytogenetics
Background Interphase fluorescence in situ hybridization (FISH) is commonly used for rapid aneuploidy detection in clinical settings. While FISH-based aneuploidy detection provides rapid results desirable for patient management, it usually only utilizes ...
Qiliang Ding, Abigail L. Bronson, Kyna A. Byerly, Anna A. Essendrup, Elyse B. Mitchell, Cassandra K. Runke, Ross A. Rowsey, Nicole L. Hoppman   +7 more
doaj   +1 more source

Chromosome r(10)(p15.3q26.12) in a newborn child: case report

Molecular Cytogenetics, 2009
Background Ring chromosome 10 is a rare cytogenetic finding. Of the less than 10 reported cases we have found in the literature, none was characterized using high-resolution microarray analysis.
Jonasson Jon, Graffmann Barbara, Gunnarsson Cecilia   +2 more
doaj   +1 more source