Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic diso...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Sharp, A, Hansen, S, Selzer, R, Cheng, Z, Regan, R, Hurst, J, Stewart, H, Price, S, Blair, E, Hennekam, R, Fitzpatrick, C, Segraves, R, Richmond, T, Guiver, C, Albertson, D, Pinkel, D, Eis, P, Schwartz, S, Knight, S, Eichler, E
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	2006

Ижил төстэй зүйлс

Pervasive transcription of the human genome produces thousands of previously unidentified long intergenic noncoding RNAs.
-н: Matthew J Hangauer, зэрэг
Хэвлэсэн: (2013-06-01)

Genomics dataset of unidentified disclosed isolates
-н: Bhagwan N. Rekadwad
Хэвлэсэн: (2016-09-01)

Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
-н: Amaresh R. Vanga, зэрэг
Хэвлэсэн: (2020-01-01)

Evidence for Previously Unidentified Sexual Transmission of Protozoan Parasites
-н: Clara Crespillo-Andujar, зэрэг
Хэвлэсэн: (2018-03-01)

DOP-PCR products amplified from genomic DNA can be used reliably in whole genome array CGH studie for the detection of delections and duplications in leukaemia
-н: Wilson, K, зэрэг
Хэвлэсэн: (2005)

Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color
-н: Simcoe, M, зэрэг
Хэвлэсэн: (2021)

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
-н: Hannes, F, зэрэг
Хэвлэсэн: (2009)

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
-н: Hannes, F, зэрэг
Хэвлэсэн: (2009)

Characterization of a recurrent 15q24 microdeletion syndrome.
-н: Sharp, A, зэрэг
Хэвлэсэн: (2007)

Joint inference of CFC lifetimes and banks suggests previously unidentified emissions
-н: Lickley, Megan, зэрэг
Хэвлэсэн: (2021)

Joint inference of CFC lifetimes and banks suggests previously unidentified emissions
-н: Megan Lickley, зэрэг
Хэвлэсэн: (2021-05-01)

Analysis of recent segmental duplications in the bovine genome
-н: Li Congjun, зэрэг
Хэвлэсэн: (2009-12-01)

Recognizing the new disorder “idiopathic hypocryoglobulinaemia” in patients with previously unidentified clinical conditions
-н: Dario Roccatello, зэрэг
Хэвлэсэн: (2022-09-01)

Eight previously unidentified mutations found in the <it>OA1 </it>ocular albinism gene
-н: Dufier Jean-Louis, зэрэг
Хэвлэсэн: (2006-04-01)

Modelling segmental duplications in the human genome
-н: Eldar T. Abdullaev, зэрэг
Хэвлэсэн: (2021-07-01)

Idiopathic learning disability and genome imbalance.
-н: Knight, S, зэрэг
Хэвлэсэн: (2006)

The fate of gene duplicates in the genomes of fungal pathogens.
-н: Skamnioti, P, зэрэг
Хэвлэсэн: (2008)

Whole genome microarrays for the detection of cryptic genomic imbalances in idiopathic learning disability
-н: Regan, R, зэрэг
Хэвлэсэн: (2005)

Diagnosis of previously unidentified haemophilia A in a patient following routine endoscopic sinus surgery
-н: Brendan P Forrest, зэрэг
Хэвлэсэн: (2021-06-01)

Autopolyploidy genome duplication preserves other ancient genome duplications in Atlantic salmon (Salmo salar).
-н: Kris A Christensen, зэрэг
Хэвлэсэн: (2017-01-01)

Unidentified mime artist
-н: London Irish Women's Centre, LIWC, зэрэг

Unidentified Verbal Objects
-н: Esa Kirkkopelto
Хэвлэсэн: (2024-12-01)

The National Missing and Unidentified Persons System: Genetic Identification of Missing and Unidentified Persons
-н: Heather Mckiernan
Хэвлэсэн: (2023-01-01)

Capsid structure of a fungal dsRNA megabirnavirus reveals its previously unidentified surface architecture.
-н: Han Wang, зэрэг
Хэвлэсэн: (2023-02-01)

Previously unidentified changes in renal cell carcinoma gene expression identified by parametric analysis of microarray data
-н: Cohen Herbert T, зэрэг
Хэвлэсэн: (2003-11-01)

Unidentified acids in severe malaria: lessons for critical care.
-н: Fischer, M, зэрэг
Хэвлэсэн: (2004)

Gene Duplication Analysis Reveals No Ancient Whole Genome Duplication but Extensive Small-Scale Duplications during Genome Evolution and Adaptation of Schistosoma mansoni
-н: Shuai Wang, зэрэг
Хэвлэсэн: (2017-09-01)

Inverse symmetry in complete genomes and whole-genome inverse duplication.
-н: Sing-Guan Kong, зэрэг
Хэвлэсэн: (2009-11-01)

Gene Duplications in the Genomes of Staphylococci and Enterococci
-н: José Francisco Sanchez-Herrero, зэрэг
Хэвлэсэн: (2020-07-01)

Spontaneous whole-genome duplication restores fertility in interspecific hybrids
-н: Guillaume Charron, зэрэг
Хэвлэсэн: (2019-09-01)

Breast tumor copy number aberration phenotypes and genomic instability
-н: Ljung Britt, зэрэг
Хэвлэсэн: (2006-04-01)

Previously Unidentified Histone H1-Like Protein Is Involved in Cell Division and Ribosome Biosynthesis in Toxoplasma gondii
-н: Vanessa Severo, зэрэг
Хэвлэсэн: (2022-12-01)

High-speed camera recordings uncover previously unidentified elements of zebrafish mating behaviors integral to successful fertilization
-н: Buntaro Zempo, зэрэг
Хэвлэсэн: (2021-10-01)

MERCOSUR as unidentified political object
-н: Enrique S. Mantilla
Хэвлэсэн: (2017-11-01)

Unidentifiable object in the right atrium
-н: Yusuke Asakura, зэрэг
Хэвлэсэн: (2018-12-01)

MOLECULAR ANALYSIS OF PUUMALA ORTHOHANTAVIRUS STRAINS IN HEMORRHAGIC FEVER WITH RENAL SYNDROME PATIENTS REVEAL GENOME VARIANTS UNIDENTIFIED IN BANK VOLE POPULATIONS
-н: E. Kabwe, зэрэг
Хэвлэсэн: (2023-05-01)

Editorial: Advances in the diagnosis and genomic research of surveillance-response activities in emerging, re-emerging, and unidentified infectious diseases
-н: Chenxi Wang, зэрэг
Хэвлэсэн: (2023-05-01)

The unidentified eruption of 1809: a climatic cold case
-н: C. Timmreck, зэрэг
Хэвлэсэн: (2021-07-01)

Dispensable genome and segmental duplications drive the genome plasticity in Fusarium solani
-н: Abbeah Navasca, зэрэг
Хэвлэсэн: (2025-02-01)

An unidentified buffalo disease in Remote Mountains of Far West Nepal
-н: B.S. Shrestha, зэрэг
Хэвлэсэн: (2010-02-01)