MARC details
| 000 -LIDER |
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| fixed length control field |
05154nam a22005775i 4500 |
| 001 - CONTROL NUMBER |
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| control field |
978-3-031-62945-7 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20250516160200.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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| fixed length control field |
cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
241130s2024 sz | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9783031629457 |
| -- |
978-3-031-62945-7 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
QH426-470 |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
PSAK |
| Source |
bicssc |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
SCI029000 |
| Source |
bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
PSAK |
| Source |
thema |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
576.5 |
| Edition number |
23 |
| 245 14 - TITLE STATEMENT |
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| Title |
The RASopathies |
| Medium |
[electronic resource] : |
| Remainder of title |
Genetic Syndromes of the RAS/MAPK Pathway / |
| Statement of responsibility, etc. |
edited by Katherine A. Rauen. |
| 250 ## - EDITION STATEMENT |
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| Edition statement |
1st ed. 2024. |
| 264 #1 - |
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| -- |
Cham : |
| -- |
Springer Nature Switzerland : |
| -- |
Imprint: Springer, |
| -- |
2024. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Extent |
XXII, 914 p. 96 illus., 92 illus. in color. |
| Other physical details |
online resource. |
| 336 ## - |
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| -- |
text |
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txt |
| -- |
rdacontent |
| 337 ## - |
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| -- |
computer |
| -- |
c |
| -- |
rdamedia |
| 338 ## - |
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| -- |
online resource |
| -- |
cr |
| -- |
rdacarrier |
| 347 ## - |
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| -- |
text file |
| -- |
PDF |
| -- |
rda |
| 505 0# - FORMATTED CONTENTS NOTE |
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| Formatted contents note |
Preface -- What is a RASopathy -- Neurofibromatosis Type 1 -- Legius Syndrome -- Noonan Syndrome -- Noonan Syndrome with Multiple Lentigines -- Costello Syndrome -- Cardio-facio-cutaneous Syndrome -- Capillary Malformation - Arteriovenous Malformation Syndrome -- SYNGAP1 - The Gene and Syndrome -- Central Conducting Lymphatic Anomalies -- Defining Pathogenic Variants in RASopathies -- Molecular Genetics of Noonan Syndrome and other RASopathies -- Comprehensive Care for Patients with RASopathies -- Precision Medicine in RASopathies: Tailored Disease Management through Enhanced Approaches, Disease Delineation, and Pathway-Specific Therapies -- Genetic Counseling and the RASopathies -- The Importance of Advocacy in the RASopathies -- The RAS Signaling Network and Cancer -- The RAS-regulated RAF-MEK1/2-ERK1/2 Protein Kinase Pathway - the path most travelled in RASopathies -- The non-canonical RAS/MAPK pathway and the RASopathies -- Understanding the Ras in RASopathies -- RAS Family Interactions: The SHOC2-MRAS-PP1 complex in Noonan syndrome -- RASopathy Genes: Germline Risk and Somatic Cancers -- Cancer in Neurofibromatosis type 1 -- Prenatal Manifestations of the RASopathies -- Cardiovascular Disease in the RASopathies -- Cognitive Development and Learning in RASopathies -- Behavioral Profile in RASopathies -- Autism and Social Behavior in RASopathies -- Epilepsy in RASopathies -- Speech-Language Pathology in the RASopathies -- Ophthalmic Manifestations in RASopathies -- Dermatological Associations in the RASopathies -- Mosaic RASopathies -- Craniofacial and Dental Development in the RASopathies -- Skeletal Muscle Development in the RASopathies -- Orthopedic Issues of the RASopathies -- Drosophila models of RASopathies -- Neurofibromatosis Type 1 Mouse Models -- Neurofibromatosis type I: Preclinical Modeling -- Modeling the non-NF1 RASopathies -- Clinical Studies and Small Molecule Inhibitors for RASopathy Treatment -- Index. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc. |
This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes, affecting approximately 1 in 1,000 people. These syndromes include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation-arteriovenous malformation syndrome, SYNGAP1 syndrome and central conducting lymphatic anomalies. Noted physician and authority Katherine Rauen and an assembly of the top international experts present detailed discussions of both the science and clinical implications of these fascinating disorders. The major topics covered in this book include the syndromes and genes, the RAS pathway, phenotypic features, animal modeling and treatments. The book will appeal to a wide audience, including clinicians and basic scientists alike such as medical geneticists, genetics counsellors, oncologists, neurologists, cardiologists, dermatologists, behavioralists, orthopedists, ophthalmologists, neuroscientists, RAS biologists, and signal transductionists. This book is also intended for advocate leaders, trainees, and families with RASopathies. |
| 541 ## - IMMEDIATE SOURCE OF ACQUISITION NOTE |
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| Owner |
UABC ; |
| Method of acquisition |
Perpetuidad |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Medical genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Neurosciences. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Neurology . |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Pediatrics. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Genetics and Genomics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Clinical Genetics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Neuroscience. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Neurology. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Pediatrics. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Rauen, Katherine A. |
| Relator term |
editor. |
| Relator code |
edt |
| -- |
http://id.loc.gov/vocabulary/relators/edt |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
|---|
| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
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| Title |
Springer Nature eBook |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Relationship information |
Printed edition: |
| International Standard Book Number |
9783031629440 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Relationship information |
Printed edition: |
| International Standard Book Number |
9783031629464 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Relationship information |
Printed edition: |
| International Standard Book Number |
9783031629471 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
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| Public note |
Libro electrónico |
| Uniform Resource Identifier |
http://libcon.rec.uabc.mx:2048/login?url=https://doi.org/10.1007/978-3-031-62945-7 |
| 912 ## - |
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| -- |
ZDB-2-SBL |
| 912 ## - |
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ZDB-2-SXB |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Libro Electrónico |
