The Resource Uniparental disomy (UPD) in clinical genetics : a guide for clinicians and patients, Thomas Liehr ; with contributions by Unique

Uniparental disomy (UPD) in clinical genetics : a guide for clinicians and patients, Thomas Liehr ; with contributions by Unique

Label
Uniparental disomy (UPD) in clinical genetics : a guide for clinicians and patients
Title
Uniparental disomy (UPD) in clinical genetics
Title remainder
a guide for clinicians and patients
Statement of responsibility
Thomas Liehr ; with contributions by Unique
Creator
Author
Subject
Genre
Language
eng
Summary
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims
Cataloging source
GW5XE
http://library.link/vocab/creatorDate
1965-
http://library.link/vocab/creatorName
Liehr, Thomas
Dewey number
616/.042
Illustrations
illustrations
Index
index present
LC call number
RB155.5
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
NLM call number
QU 477
http://library.link/vocab/subjectName
  • Genetic disorders
  • HEALTH & FITNESS
  • MEDICAL
  • MEDICAL
  • MEDICAL
  • MEDICAL
  • Genetic disorders
  • Biomedicine
  • Human Genetics
  • Cytogenetics
  • Reproductive Medicine
  • Laboratory Medicine
Label
Uniparental disomy (UPD) in clinical genetics : a guide for clinicians and patients, Thomas Liehr ; with contributions by Unique
Link
https://ezproxy.lib.ou.edu/login?url=http://link.springer.com/10.1007/978-3-642-55288-5
Instantiates
Publication
Antecedent source
unknown
Bibliography note
Includes bibliographical references and index
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Color
multicolored
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
Introduction -- Formation of UPD -- UPD in diagnostics and genetic counseling -- UPD related syndromes caused by imprinting -- Maternal UPD by chromosome -- Paternal UPD by chromosome -- UPD of unclear parental origin by chromosome -- UPD of multiple chromosomes or chromosomal regions -- Acquired UPD -- Patient organizations in connection with UPD-. Glossary-. References -- Index
Dimensions
unknown
Extent
1 online resource (xviii, 192 pages)
File format
unknown
Form of item
online
Isbn
9783642552878
Level of compression
unknown
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Note
SpringerLink
Other control number
10.1007/978-3-642-55288-5
Other physical details
illustrations (some color)
Quality assurance targets
not applicable
Reformatting quality
unknown
Sound
unknown sound
Specific material designation
remote
System control number
  • (OCoLC)882561972
  • (OCoLC)ocn882561972
Label
Uniparental disomy (UPD) in clinical genetics : a guide for clinicians and patients, Thomas Liehr ; with contributions by Unique
Link
https://ezproxy.lib.ou.edu/login?url=http://link.springer.com/10.1007/978-3-642-55288-5
Publication
Antecedent source
unknown
Bibliography note
Includes bibliographical references and index
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Color
multicolored
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
Introduction -- Formation of UPD -- UPD in diagnostics and genetic counseling -- UPD related syndromes caused by imprinting -- Maternal UPD by chromosome -- Paternal UPD by chromosome -- UPD of unclear parental origin by chromosome -- UPD of multiple chromosomes or chromosomal regions -- Acquired UPD -- Patient organizations in connection with UPD-. Glossary-. References -- Index
Dimensions
unknown
Extent
1 online resource (xviii, 192 pages)
File format
unknown
Form of item
online
Isbn
9783642552878
Level of compression
unknown
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Note
SpringerLink
Other control number
10.1007/978-3-642-55288-5
Other physical details
illustrations (some color)
Quality assurance targets
not applicable
Reformatting quality
unknown
Sound
unknown sound
Specific material designation
remote
System control number
  • (OCoLC)882561972
  • (OCoLC)ocn882561972

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