Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

Εμφάνιση άλλων εκδόσεων (1)

We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdiv...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Daniels, R, Peden, J, Lloyd, C, Horsley, S, Clark, K, Tufarelli, C, Kearney, L, Buckle, V, Doggett, N, Flint, J, Higgs, D
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2001

Παρόμοια τεκμήρια

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16
ανά: Daniels, RJ, κ.ά.
Έκδοση: (2001)

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.
ανά: Horsley, S, κ.ά.
Έκδοση: (2001)

Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.
ανά: Flint, J, κ.ά.
Έκδοση: (1996)

Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster.
ανά: Flint, J, κ.ά.
Έκδοση: (2001)

The relationship between chromosome structure and function at a human telomeric region.
ανά: Flint, J, κ.ά.
Έκδοση: (1997)

A fluorescence in situ hybridisation (FISH) assay for submicroscopic chromosome rearrangements involving telomers.
ανά: Horsley, S, κ.ά.
Έκδοση: (1997)

Subtle chromosomal rearrangements in children with unexplained mental retardation.
ανά: Knight, S, κ.ά.
Έκδοση: (1999)

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16.
ανά: Wilkie, A, κ.ά.
Έκδοση: (1991)

High-resolution mapping of spontaneous mitotic recombination hotspots on the 1.1 Mb arm of yeast chromosome IV.
ανά: Jordan St Charles, κ.ά.
Έκδοση: (2013-04-01)

A 36 Mb terminal deletion of chromosome 2BL is responsible for a wheat semi-dwarf mutation
ανά: Qiuhong Wu, κ.ά.
Έκδοση: (2021-08-01)

Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults
ανά: Bergounioux Jean, κ.ά.
Έκδοση: (2004-05-01)

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm
ανά: Mariangela Cisternino, κ.ά.
Έκδοση: (2013-01-01)

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.
ανά: Horsley, S, κ.ά.
Έκδοση: (1998)

Characterization of a widely expressed gene (LUC7-LIKE; LUC7L) defining the centromeric boundary of the human alpha-globin domain.
ανά: Tufarelli, C, κ.ά.
Έκδοση: (2001)

The DNA sequence and biological annotation of human chromosome 1.
ανά: Gregory, S, κ.ά.
Έκδοση: (2006)

Ring synthetic chromosome V SCRaMbLE
ανά: Juan Wang, κ.ά.
Έκδοση: (2018-09-01)

Comparative analysis of the alpha-like globin clusters in mouse, rat, and human chromosomes indicates a mechanism underlying breaks in conserved synteny.
ανά: Tufarelli, C, κ.ά.
Έκδοση: (2004)

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.
ανά: McDowell, T, κ.ά.
Έκδοση: (1999)

A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5
ανά: O. A. Solovova, κ.ά.
Έκδοση: (2020-10-01)

A selective sweep of >8 Mb on chromosome 26 in the Boxer genome
ανά: Altet Laura, κ.ά.
Έκδοση: (2011-07-01)

Human subtelomeric probes: applications in practice
ανά: Kearney, L, κ.ά.
Έκδοση: (1998)

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.
ανά: Flint, J, κ.ά.
Έκδοση: (1995)

alpha-thalassemia resulting from a negative chromosomal position effect.
ανά: Barbour, V, κ.ά.
Έκδοση: (2000)

Genome-wide expansion and reorganization during grass evolution: from 30 Mb chromosomes in rice and Brachypodium to 550 Mb in Avena
ανά: Qing Liu, κ.ά.
Έκδοση: (2023-12-01)

Assembly of the 81.6 Mb centromere of pea chromosome 6 elucidates the structure and evolution of metapolycentric chromosomes.
ανά: Jiří Macas, κ.ά.
Έκδοση: (2023-02-01)

Annotation: behavioural phenotypes: a window onto the biology of behaviour.
ανά: Flint, J
Έκδοση: (1996)

A new chromosome-level genome assembly and annotation of Cryptosporidium meleagridis
ανά: Lasya R. Penumarthi, κ.ά.
Έκδοση: (2024-12-01)

A transcript map of a 10-Mb region of chromosome 19: a source of genes for human disorders, including candidates for genes involved in asthma, heart defects, and eye development.
ανά: Hamshere, M, κ.ά.
Έκδοση: (2000)

Psychiatric genetics: a frightful chromosome.
ανά: Flint, J
Έκδοση: (2001)

Chromosome-level genome assembly and annotation of the Spinibarbus caldwelli
ανά: Lina Wu, κ.ά.
Έκδοση: (2024-08-01)

Chromosome-scale genome assembly and annotation of Cotoneaster glaucophyllus
ανά: Kaikai Meng, κ.ά.
Έκδοση: (2024-04-01)

Chromosome-scale assembly and annotation of the perennial ryegrass genome
ανά: Istvan Nagy, κ.ά.
Έκδοση: (2022-07-01)

Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms
ανά: Noordam, Michiel J., κ.ά.
Έκδοση: (2016)

Dissecting the barley genome to chromosome arms by flow sorting
ανά: P. Suchánková, κ.ά.
Έκδοση: (2005-12-01)

Dissecting the barley genome to chromosome arms by flow sorting
ανά: P. Suchánková, κ.ά.
Έκδοση: (2005-12-01)

Healing of broken human chromosomes by the addition of telomeric repeats.
ανά: Flint, J, κ.ά.
Έκδοση: (1994)

Screening chromosome ends for learning disability - Small chromosomal rearrangements may be behind idiopathic learning disability
ανά: Knight, S, κ.ά.
Έκδοση: (2000)

Screening chromosome ends for learning disability.
ανά: Knight, S, κ.ά.
Έκδοση: (2000)

Arm-specific dynamics of chromosome evolution in malaria mosquitoes
ανά: Xia Ai, κ.ά.
Έκδοση: (2011-04-01)

Lysobacter enzymogenes: A fully armed biocontrol warrior
ανά: Long Lin, κ.ά.
Έκδοση: (2025-01-01)