Neurofibromatosis type 1: molecular and cellular biology
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Berlin [u.a.]
Springer
2012
|
| Schlagworte: | |
| Online-Zugang: | Inhaltstext Inhaltsverzeichnis |
| Beschreibung: | XVI, 717 S. 35 schw.-w. Ill., 45 farb. Ill. |
| ISBN: | 3642328636 9783642328633 |
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Datensatz im Suchindex
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IMAGE 1
CONTENTS
1 VON RECKLINGHAUSEN DISEASE: 130 YEARS 1
VINCENT M. RICCARDI
2 CLINICAL DIAGNOSIS AND ATYPICAL FORMS OF NF1 17
SIRKKU PELTONEN AND MINNA POYHONEN
3 MANAGEMENT AND TREATMENT OF "COMPLEX NEUROFIBROMATOSIS 1 " . . . 31
ROSALIE E. FERNER AND SUSAN M. HUSON
4 MORTALITY IN NEUROFIBROMATOSIS 1 47
GARETH R. EVANS
5 THE COGNITIVE PROFILE OF NF1 CHILDREN: THERAPEUTIC IMPLICATIONS 55
NATALIE A. PRIDE AND KATHRYN N. NORTH
6 CLINICAL EXPRESSION O F NF1 IN MONOZYGOTIC TWINS 71
ELIZABETH K. SCHORRY AND EMILY SITES
7 VALUE O F WHOLE BODY MRI IN PATIENTS WITH NF1 83
VICTOR-FELIX MAUTNER
8 QUALITY O F LIFE IN NF1 93
PATRICIA BIRCH AND J.M. FRIEDMAN
9 NF1 GENE: PROMOTER, 5' UTR, AND 3' UTR 105
HUA LI AND MARGARET R. WALLACE
10 THE GERMLINE MUTATIONAL SPECTRUM IN NEUROFIBROMATOSIS TYPE 1 AND
GENOTYPE-PHENOTYPE CORRELATIONS 115
DAVID N. COOPER AND MEENA UPADHYAYA
11 SPLICING MECHANISMS AND MUTATIONS IN THE NF1 GENE 135
MARCO BARALLE AND DIANA BARALLE
X 1 U
HTTP://D-NB.INFO/1024627519
IMAGE 2
XIV CONTENTS
12 NF1 GERMLINE AND SOMATIC MOSAICISM 151
LUDWINE MESSIAEN AND JING XIE
13 DEEP INTRONIC NF1 MUTATIONS AND POSSIBLE THERAPEUTIC INTERVENTIONS
173
CONXI LAZARO, JUANA FERNANDEZ-RODRIGUEZ, AND EDUARD SERRA
14 NF1 MICRODELETIONS AND THEIR UNDERLYING MUTATIONAL MECHANISMS 187
HILDEGARD KEHRER-SAWATZKI AND DAVID N. COOPER
15 THE SOMATIC MUTATIONAL SPECTRUM O F THE NF1 GENE 211
MEENA UPADHYAYA, NADIA CHUZHANOVA, AND DAVID N. COOPER
16 RELATIONSHIP BETWEEN NF1 AND CONSTITUTIVE MISMATCH REPAIR DEFICIENCY
235
KATHARINA WIMMER
17 INSIGHTS INTO NF1 FROM EVOLUTION 253
BRITTA BARTELT-KIRBACH AND DIETER KAUFMANN
18 MODIFIER GENES IN NF1 269
ERIC PASMANT, DOMINIQUE VIDAUD, AND PIERRE WOLKENSTEIN
19 DISSECTION O F COMPLEX GENETIC AND EPIGENETIC INTERACTIONS UNDERLYING
NF1 CANCER SUSCEPTIBILITY USING MOUSE MODELS 287 GEORGETTE N. JONES AND
KARLYNE M. REILLY
20 NEUROFIBROMIN: PROTEIN DOMAINS AND FUNCTIONAL CHARACTERISTICS 305
KLAUS SCHEFFZEK AND STEFAN WELTI
21 MOLECULAR BASIS OF BONE ABNORMALITIES IN NF1 327
DAVID A. STEVENSON AND FLORENT ELEFTERIOU
22 NF1-ASSOCIATED OPTIC GLIOMA 341
ANNE C. SOLGA AND DAVID H. GUTMANN
23 MOLECULAR BASIS O F CARDIOVASCULAR ABNORMALITIES IN NF1 353
BRIAN K. STANSFIELD, DAVID A. INGRAM, SIMON J. CONWAY, AND JAN M.
FRIEDMAN
24 MOLECULAR BASIS O F GLOMUS TUMOURS 367
HILDE BREMS, ERIC LEGIUS, AND DOUGLAS R. STEWART
25 PHEOCHROMOCYTOMA AND NF1 381
BIRKE BAUSCH AND HARTMUT P.H. NEUMANN
26 MOLECULAR AND CELLULAR BASIS OF HUMAN CUTANEOUS NEUROFIBROMAS AND
THEIR DEVELOPMENT 393
JUHA PELTONEN, EEVA-MARI JOUHILAHTI, AND SIRKKU PELTONEN
IMAGE 3
CONTENTS X V
27 SOMATIC COPY NUMBER ALTERATIONS: GENE AND PROTEIN EXPRESSION
CORRELATES IN NF1-ASSOCIATED MALIGNANT PERIPHERAL NERVE SHEATH TUMORS
405
MEENA UPADHYAYA AND DAVID N. COOPER
28 PATHOLOGIC AND MOLECULAR DIAGNOSTIC FEATURES OF PERIPHERAL NERVE
SHEATH TUMORS IN NF1 429
ANAT STEMMER-RACHAMIMOV AND G. PETUR NIELSEN
29 MALIGNANT PERIPHERAL NERVE SHEATH TUMORS: PROGNOSTIC AND DIAGNOSTIC
MARKERS AND THERAPEUTIC TARGETS 445
HOLLY MEANY, BRIGITTE C. WIDEMANN, AND NANCY RATNER
30 NF1 MUTATIONS IN HEMATOLOGIC CANCERS 469
TIFFANY CHANG AND KEVIN SHANNON
31 LEGIUS SYNDROME: DIAGNOSIS AND PATHOLOGY 487
HILDE BREMS, LUDWINE MESSIAEN, AND ERIC LEGIUS
32 THE RASOPATHIES: SYNDROMES O F RAS/MAPK PATHWAY DYSREGULATION 497
WILLIAM E. TIDYMAN AND KATHERINE A. RAUEN
33 ADVANCES IN NF1 ANIMAL MODELS AND LESSONS LEARNED 513
OPHELIA MAERTENS AND KAREN CICHOWSKI
34 DROSOPHILA : AN INVERTEBRATE MODEL O F NF1 523
JAMES A. WALKER, JEAN Y. GOUZI, AND ANDRE BERNARDS
35 ZEBRAFISH MODEL FOR NF1 535
ARUN PADMANABHAN AND JONATHAN A. EPSTEIN
36 CELL O F ORIGIN AND THE CONTRIBUTION O F MICROENVIRONMENT IN NF1
TUMORIGENESIS AND THERAPEUTIC IMPLICATIONS 549
JOHANNA BUCHSTALLER, D. WADE CLAPP, LUIS F. PARADA, AND YUAN ZHU
37 MOLECULAR AND CELLULAR APPROACHES TO COGNITIVE IMPAIRMENTS ASSOCIATED
WITH NF1 AND OTHER RASOPATHIES 569
YONG-SEOK LEE AND ALCINO J. SILVA
38 RAS SIGNALING PATHWAY IN BIOLOGY AND THERAPY O F MALIGNANT PERIPHERAL
NERVE SHEATH TUMORS 589
FARIS FARASSATI
39 MICRORNA AND NF1 TUMORIGENESIS 611
ADRIENNE M. FLANAGAN AND NADEGE PRESNEAU
40 TRANSLATIONAL/CLINICAL STUDIES IN CHILDREN AND ADULTS WITH
NEUROFIBROMATOSIS TYPE 1 625
BRUCE KORF, BRIGITTE WIDEMANN, MARIA T. ACOSTA, AND R O G E R J. PACKER
IMAGE 4
XVI C O N T E N T S
41 THE ROLE OF NF1 LAY FOUNDATIONS: FUTURE VISION 659
KIM HUNTER-SCHAEDLE
42 SOCIAL STIGMA IN NEUROFIBROMATOSIS 1 673
JOAN ABLON
43 PERSONALIZED MEDICINE IN NF1 683
DAVID VISKOCHIL
44 NEUROFIBROMATOSIS TYPE 1: FUTURE DIRECTIONS (WHERE DO W E GO FROM
HERE?) 691
LUIS F. PARADA
INDEX 699 |
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| title | Neurofibromatosis type 1 molecular and cellular biology |
| title_auth | Neurofibromatosis type 1 molecular and cellular biology |
| title_exact_search | Neurofibromatosis type 1 molecular and cellular biology |
| title_full | Neurofibromatosis type 1 molecular and cellular biology Meena Upadhyaya ..., ed. |
| title_fullStr | Neurofibromatosis type 1 molecular and cellular biology Meena Upadhyaya ..., ed. |
| title_full_unstemmed | Neurofibromatosis type 1 molecular and cellular biology Meena Upadhyaya ..., ed. |
| title_short | Neurofibromatosis type 1 |
| title_sort | neurofibromatosis type 1 molecular and cellular biology |
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