Cargando…

Clinical Impact of Proximal Autosomal Imbalances

Centromere-near gain of copy number can be induced by intra- or inter-chromosomal rearrangements or by the presence of a small supernumerary marker chromosome (sSMC). Interestingly, partial trisomy to hexasomy of euchromatic material may be present in clinically healthy or affected individuals, depe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hamid, AB, Weise, A, Voigt, M, Bucksch, M, Kosyakova, N, Liehr, T, Klein, E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Macedonian Science of Sciences and Arts 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776667/ https://www.ncbi.nlm.nih.gov/pubmed/24052727 http://dx.doi.org/10.2478/bjmg-2013-0002

Ejemplares similares

Human Ring Chromosomes – New Insights for their Clinical Significance
por: Guilherme, RS, et al.
Publicado: ( 201)

The hierarchically organized splitting of chromosomal bands for all human chromosomes
por: Kosyakova, Nadezda, et al.
Publicado: (2009)

Comprehensive characterization of genomic instability in pluripotent stem cells and their derived neuroprogenitor cell lines
por: Lopez Corrales, Nestor Luis, et al.
Publicado: (2012)

Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes
por: Liehr, Thomas, et al.
Publicado: (2010)

X-autosome and X-Y Translocations in Female Carriers: X-chromosome Inactivation Easily Detectable by 5-ethynyl-2-deoxyuridine (EdU)
por: Donat, M, et al.
Publicado: (2017)

Factors affecting clinical manifestation of chromosomal imbalance in carriers of segmental autosomal mosaicism: differential impact of gender
por: Kovaleva, Natalia V., et al.
Publicado: (2022)

Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances
por: Raymond, Yvette C., et al.
Publicado: (2022)

Genome-wide identification of autosomal genes with allelic imbalance of chromatin state
por: Savol, Andrej J., et al.
Publicado: (2017)

Transcriptional bursts explain autosomal random monoallelic expression and affect allelic imbalance
por: Larsson, Anton J. M., et al.
Publicado: (2021)

A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
por: Sheth, Frenny, et al.
Publicado: (2009)

Imbalance between the expression dosages of X-chromosome and autosomal genes in mammalian oocytes
por: Fukuda, Atsushi, et al.
Publicado: (2015)

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?
por: Polityko, Anna, et al.
Publicado: (2010)

TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis
por: Nishimori, Yukako, et al.
Publicado: (2021)

Early Proximal Junctional Failure in Patients with Preoperative Sagittal Imbalance
por: Smith, Micah W., et al.
Publicado: (2013)

The Laboratory and Clinical Perspectives of Magnesium Imbalance
por: Ab Rahim, Siti Nadirah, et al.
Publicado: (2023)

Microdissection of lampbrush chromosomes as an approach for generation of locus-specific FISH-probes and samples for high-throughput sequencing
por: Zlotina, Anna, et al.
Publicado: (2016)

Enteric Neuron Imbalance and Proximal Dysmotility in Ganglionated Intestine of the Sox10(Dom/+) Hirschsprung Mouse Model
por: Musser, Melissa A., et al.
Publicado: (2014)

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report
por: Manolakos, Emmanouil, et al.
Publicado: (2008)

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
por: Kitsiou-Tzeli, Sofia, et al.
Publicado: (2009)

Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues
por: Mkrtchyan, Hasmik, et al.
Publicado: (2010)

Proximal Junctional Failure after Corrective Surgery: Focusing on Elderly Patients with Severe Sagittal Imbalance
por: Park, Se-Jun, et al.
Publicado: (2023)

First detailed reconstruction of the karyotype of Trachypithecus cristatus (Mammalia: Cercopithecidae)
por: Xiaobo, Fan, et al.
Publicado: (2013)

First Molecular Cytogenetic High Resolution Characterization of the NIH 3T3 Cell Line by Murine Multicolor Banding
por: Leibiger, Christine, et al.
Publicado: (2013)

Genomic and transcriptomic profiling of resistant CEM/ADR-5000 and sensitive CCRF-CEM leukaemia cells for unravelling the full complexity of multi-factorial multidrug resistance
por: Kadioglu, Onat, et al.
Publicado: (2016)

Correction: Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
por: Kitsiou-Tzeli, Sofia, et al.
Publicado: (2009)

Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma
por: Brečević, Lukrecija, et al.
Publicado: (2015)

Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
por: Trifonov, Vladimir, et al.
Publicado: (2008)

Comprehensive characterization of evolutionary conserved breakpoints in four New World Monkey karyotypes compared to Chlorocebus aethiops and Homo sapiens
por: Fan, Xiaobo, et al.
Publicado: (2015)

Molecular Cytogenetics: Genomic Imbalances in Colorectal Cancer and their Clinical Impact
por: Grade, Marian, et al.
Publicado: (2006)

Two Proximally Close Priority Candidate Genes for diplopodia-1, an Autosomal Inherited Craniofacial-Limb Syndrome in the Chicken: MRE11 and GPR83
por: O’Hare, Elizabeth A, et al.
Publicado: (2019)

Exploring Supernumeraries - A New Marker for Screening of B-Chromosomes Presence in the Yellow Necked Mouse Apodemus flavicollis
por: Bugarski-Stanojević, Vanja, et al.
Publicado: (2016)

Ring Autosomes: Some Unexpected Findings
por: Caba, L, et al.
Publicado: (2012)

Bilateral vestibulopathy: beyond imbalance and oscillopsia
por: Lucieer, F. M. P., et al.
Publicado: (2020)

Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
por: Liehr, Thomas, et al.
Publicado: (2008)

New Insights Into Chromomere Organization Provided by Lampbrush Chromosome Microdissection and High-Throughput Sequencing
por: Zlotina, Anna, et al.
Publicado: (2020)

Cross-species chromosome painting tracks the independent origin of multiple sex chromosomes in two cofamiliar Erythrinidae fishes
por: Cioffi, Marcelo B, et al.
Publicado: (2011)

Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases
por: Khojasteh, Hassan, et al.
Publicado: (2021)

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population
por: Incecik, Faruk, et al.
Publicado: (2020)

Identification of genomic imbalances in oral clefts
por: Lustosa-Mendes, Elaine, et al.
Publicado: (2020)

Non-Invasive Prenatal Testing in Germany
por: Liehr, Thomas, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_3td4l4ogap1dfmcg9j116btd7c