Copy number variation and disease: 51 tables
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Basel [u.a.]
Karger
2009
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis Klappentext |
| Beschreibung: | Aus: Cytogenetic and genome research ; 123,1-4 |
| Beschreibung: | 351 S. |
| ISBN: | 9783805590938 9783805590945 |
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Datensatz im Suchindex
| _version_ | 1804139177606905856 |
|---|---|
| adam_text | Contents
S
Preface
Kehrer-Sawatzki,
H.
(Ulm);
Cooper, D.N. (Cardiff)
Copy Number Variation and Inherited Disease
7
CNVs and genetic medicine (excitement and
consequences of a rediscovery)
Beckmann,
J.S. (Lausanne); Sharp, A.J.; Antonarakis, S.E.
(Geneva)
17
Human genes involved in copy number variation:
mechanisms of origin, functional effects and
implications for disease
de
Smith, AJ.; Walters, R.G. (London); Froguel, P. (London/Lille);
Blakemore, A.I. (London)
27
Copy variations in schizophrenia and bipolar disorder
Łachman,
H.M.
(New York, NY)
36
The role of rare structural variants in the genetics of
autism spectrum disorders
Kusenda, M. (Cold Spring Harbor, NY/Stony Brook, NY); Sebat, J.
(Cold Spring Harbor, NY)
44
Detection and validation of copy number variation in
Х
-linked mental retardation
Bauters, M.; Weuts,
Α.;
Vandewalle, J.;
Nevelsteen,
J.; Marynen,
P.;
Van Esch, H.; Froyen, G.
(Leuven)
54
CNV
and nervous system diseases
-
what s new?
Gu, W. (Houston, TX/Munich); Lupski, J.R. (Houston,
TX)
65
Molecular and clinical characterization of
de novo
and familial cases with
microduplication 3q29:
guidelines for copy number variation case reporting
Goobie, S. (Toronto,
Ont.);
Knijnenburg, J. (Leiden);
FìtzPatrick, D.;
Sharkey, F.H. (Edinburgh); Lionel,
A.C.;
Marshall, C.R.
(Toronto,
Ont.);
Azam, T. (Edinburgh); Shago, M.; Chong, K,;
Mendoza-Londono, R. (Toronto,
Ont);
den Hollander, N.S.;
Ruivenkamp,
С
(Leiden); Maher, E. (Edinburgh);
Tanke, HJ.;
Szuhai,
К.
(Leiden); Wintle, R.E; Scherer, S.W. (Toronto,
Ont.)
79
Putatively benign copy number variants in subjects
with idiopathic autism spectrum disorder and/or
intellectual disability
Qiao, Y; Harvard, C; Riendeau, N.; Fawcett, C. (Vancouver, B.C.);
Liu, X.;
Holden,
J.J.A. (Kingston,
Ont.);
Lewis, M.E.S.
(Vancouver, B.C./Kingston,
Ont.);
Rajcan-Separovic, E.
(Vancouver, B.C.)
88
Benign and pathogenic copy number variation on the
short arm of chromosome
4
Hannes, F.;
Vermeesch, J.R.
(Leuven)
94
Benign copy number changes in clinical cytogenetic
diagnostics by array
CG
H
Whitby,
H.
(Salt Lake
City, UT); Tsalenko, A. (Santa
Clara, CA);
Aston, E.
(Salt Lake
City, UT); Tsang, P. (Santa
Clara, CA);
Mitchell,
S.;
Bayrak-Toydemir, P. (Salt Lake
City, UT);
Hopkins,
С;
Peters,
G.;
Bailey,
D.K.; Bruhn,
L.
(Santa Clara,
CA);
Brothman, A.R.
(Salt Lake
City, UT)
102
Copy number variations in chronic pancreatitis
Chen, J.M.; Masson,
E.; Le Maréchal,
C; Férec, C.
(Brest)
Copy Number Variation and Complex Disease
108
The emerging role of structural variations in common
disorders: initial findings and discovery challenges
Armengol,
L.; Rabionet, R.;
Estivili,
X.
(Barcelona)
118
Diseases associated with the low copy number of the
C4B gene encoding C4, the fourth component of
complement
Szilágyi, Á.; Füst,
G. (Budapest)
131
Phenotypes,
genotypes and disease susceptibility
associated with gene copy number variations:
complement C4 CNVs in European American healthy
subjects and those with systemic lupus
erythematosus
Wu, Y.L.; Yang, Y; Chung, E.K.; Zhou,
В.;
Kitzmiller, K.J.;
SavelH, S.L.;
Nagarąja, H.N.;
Birmingham,
DJ.
(Columbus, OH);
Tsao, B.P. (Los Angeles,
CA); Rovin, B.H.;
Hebert, L.A.;
Yu, C.Y.
(Columbus, OH)
142
Copy number variants in genetic susceptibility and
severity of systemic lupus erythematosus
Ptacek,
T.;
Li, X.; Kelley, J.M.;
Edberg,
J.C.
(Birmingham,
AL)
148
Copy number variation of beta-defensins and
relevance to disease
Hollox, EJ. (Leicester)
156 HIV-1
/AIDS susceptibility and copy number variation
in
CCLÌLÌ,
a gene encoding a natural ligand for HIV-1
co-receptor CCR5
Nakajima, T. (Tokyo); Kaur, G.; Mehra,
N.
(New Delhi);
Kimura, A. (Tokyo)
161
Copy number variation of Fc gamma receptor genes
and disease predisposition
Fanciulli,
M.; Vyše, TJ.; Aitman, TJ.
(London)
169
Copy number variation in metabolic phenotypes
Lanktree, M.;
Hegele, R.A.
(London,
Ont.)
Contents
Copy Number Variation and Cancer
176
Copy number alterations and copy number variation
in cancer: close encounters of the bad kind
Speleman,
F.;
Kumps,
С;
Buysse,
К.;
Poppe,
В.;
Menten,
В.;
De Prêter,
К.
(Ghent)
183
Chromosome copy number variation and breast
cancer risk
Tchatchou, S.;
Burwinkel,
В.
(Heidelberg)
188
Predisposition to colorectal cancer: exploiting copy
number variation to identify novel predisposing
genes and mechanisms
Venkatachalam, R.; Ligtenberg, M.J.L.; Hoogerbrugge, N.;
Geurts van
Kessel,
Α.;
Kuiper, R.P. (Nijmegen)
Copy Number Variation and Pharmacogenetics
Expression Divergence and Copy Number Variation
195
CNVs of human genes and their implication in
pharmacogenetics
Johansson, I.; Ingelman-Sundberg, M. (Stockholm)
205
Sulfotransferase gene copy number variation:
pharmacogenetics and function
Hebbring, S.J.; Moyer, A.M.; Weinshilboum, R.M.
(Rochester, MN)
Copy Number Variations in Normal Human Populations
211
Germline copy number variation in control
populations
Al-Sukhni, W.; Gallinger, S. (Toronto,
Ont.)
224
Large-scale copy number variants (CNVs) detected in
different ethnic human populations
Takahashi, N.; Satoh, Y.; Kodaira, M.; Katayama, H. (Hiroshima)
Characterization of Copy Number Variations in the
Human Genome
234
Human copy number polymorphic genes
Bailey, J.A. (Cleveland, OH); Kidd, J.M.; Eichler, E.E.
(Seattle, WA)
244
Human subtelomeric copy number variations
Riethman, H. (Philadelphia, PA)
253
Copy number variation on the human
Y
chromosome
Jobling, M.A. (Leicester)
263
Genomic drift and copy number variation of
chemosensory receptor genes in humans and mice
Nozawa, M.;
Nei,
M.
(University Park, PA)
270
Copy number variation and mosaicism
Notini, A.J.; Craig, J.M.; White, S.J. (Melbourne, Vic.)
278
Expression divergence and copy number variation in
the human genome
Auer, H. (Barcelona)
Copy Number Variations and Evolution
283
The evolutionary significance of copy number
variation in the human genome
Perry, G.H. (Chicago,
IL)
288
Comparative analysis of copy number variation in
primate genomes
Kehrer-Sawatzki, H.
(Ulm);
Cooper, D.N. (Cardiff)
Copy Number Variations in the Genome of Model
Organisms
297
Copy number variation in the mouse genome:
implications for the mouse as a model organism for
human disease
Cutler, G.; Kassner,
P.D.
(San Francisco, CA)
Copy Number Variations: Technology of Detection and
Analysis
307
CNV
discovery using
SNP genotyping
arrays
Yau, C; Holmes, C.C. (Oxford)
313
Methods to detect CNVs in the human genome
Aten, E.
(Leiden); White, S.J. (Leiden/Melbourne, Vic);
Kalf,
M.E.;
Vossen,
R.H.A.M.; Thygesen,
H.H.;
Ruivenkamp,
CA.;
Kriek,
M.;
Breuning,
M.H.B.; den Dunnen, J.T.
(Leiden)
322
Detection, breakpoint identification and detailed
characterisation of a CNV at the
FRAI 6D
site using
SNP
assays
Winchester, L.; Newbury, D.F.; Monaco, A.P.; Ragoussis, J.
(Oxford)
333
Methods to detect and analyze copy number
variations at the genome-wide and locus-specific
levels
Lee, J.H. (Daejeon); Jeon, J.T. (Jinju)
343
Computational methods for identification of recurrent
copy number alteration patterns by array CGH
Shah, S.P.
(Vancouver, B.C.)
352
Author Index
Contents
Copy number variants (CNVs) are an important source of human genomic diversity. They impact
upon a diverse array of specialist fields such as evolutionary biology, predisposition to inherited dis¬
ease
(monogenie
and complex), cancer genetics, Inter-individual variation in diverse human popu¬
lations, and somatic mosafcism.The important advances in
CNV
research that have been made over
the last few years have greatly increased the awareness of the extent to which CNVs contribute to
the diversity of human phenotypes, including single gene defects and genomic disorders. Indeed,
CNVs are now being widely investigated in genome-wide association studies to determine their
influence on human disease susceptibility.
This special issue comprises a unique collection of review and original articles, which together re¬
flect the current knowledge of CNVs while posing key questions about the structure, function and
evolution of this key type of polymorphic variation in the human genome. Thus it is an invaluable
source of information for evolutionary biologists as well as for human and cancer geneticists.
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| illustrated | Not Illustrated |
| indexdate | 2024-07-09T21:39:56Z |
| institution | BVB |
| isbn | 9783805590938 9783805590945 |
| language | English |
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| spelling | Copy number variation and disease 51 tables Ed.: Hildegard Kehrer-Sawatzki Basel [u.a.] Karger 2009 351 S. txt rdacontent n rdamedia nc rdacarrier Aus: Cytogenetic and genome research ; 123,1-4 Erbkrankheit - Molekulargenetik - Aufsatzsammlung Genom - Humangenetik - Aufsatzsammlung Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Genom (DE-588)4156640-3 gnd rswk-swf Humangenetik (DE-588)4072653-8 gnd rswk-swf Molekulargenetik (DE-588)4039987-4 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Genom (DE-588)4156640-3 s Humangenetik (DE-588)4072653-8 s DE-604 Erbkrankheit (DE-588)4015106-2 s Molekulargenetik (DE-588)4039987-4 s Kehrer-Sawatzki, Hildegard 1963- Sonstige (DE-588)128805307 oth Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017594743&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017594743&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Klappentext |
| spellingShingle | Copy number variation and disease 51 tables Erbkrankheit - Molekulargenetik - Aufsatzsammlung Genom - Humangenetik - Aufsatzsammlung Erbkrankheit (DE-588)4015106-2 gnd Genom (DE-588)4156640-3 gnd Humangenetik (DE-588)4072653-8 gnd Molekulargenetik (DE-588)4039987-4 gnd |
| subject_GND | (DE-588)4015106-2 (DE-588)4156640-3 (DE-588)4072653-8 (DE-588)4039987-4 (DE-588)4143413-4 |
| title | Copy number variation and disease 51 tables |
| title_auth | Copy number variation and disease 51 tables |
| title_exact_search | Copy number variation and disease 51 tables |
| title_full | Copy number variation and disease 51 tables Ed.: Hildegard Kehrer-Sawatzki |
| title_fullStr | Copy number variation and disease 51 tables Ed.: Hildegard Kehrer-Sawatzki |
| title_full_unstemmed | Copy number variation and disease 51 tables Ed.: Hildegard Kehrer-Sawatzki |
| title_short | Copy number variation and disease |
| title_sort | copy number variation and disease 51 tables |
| title_sub | 51 tables |
| topic | Erbkrankheit - Molekulargenetik - Aufsatzsammlung Genom - Humangenetik - Aufsatzsammlung Erbkrankheit (DE-588)4015106-2 gnd Genom (DE-588)4156640-3 gnd Humangenetik (DE-588)4072653-8 gnd Molekulargenetik (DE-588)4039987-4 gnd |
| topic_facet | Erbkrankheit - Molekulargenetik - Aufsatzsammlung Genom - Humangenetik - Aufsatzsammlung Erbkrankheit Genom Humangenetik Molekulargenetik Aufsatzsammlung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017594743&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017594743&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT kehrersawatzkihildegard copynumbervariationanddisease51tables |