Holdings: Neurofibromatosis type 1

Neurofibromatosis type 1: molecular and cellular biology

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Bibliographic Details
Format:	Book
Language:	English
Published:	Berlin [u.a.] Springer 2012
Subjects:	Typ 1 Neurofibromatose Aufsatzsammlung
Online Access:	Inhaltstext Inhaltsverzeichnis
Physical Description:	XVI, 717 S. 35 schw.-w. Ill., 45 farb. Ill.
ISBN:	3642328636 9783642328633

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MARC


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adam_text	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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physical	XVI, 717 S. 35 schw.-w. Ill., 45 farb. Ill.
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spelling	Neurofibromatosis type 1 molecular and cellular biology Meena Upadhyaya ..., ed. Berlin [u.a.] Springer 2012 XVI, 717 S. 35 schw.-w. Ill., 45 farb. Ill. txt rdacontent n rdamedia nc rdacarrier Typ 1 (DE-588)4326602-2 gnd rswk-swf Neurofibromatose (DE-588)4171581-0 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Neurofibromatose (DE-588)4171581-0 s Typ 1 (DE-588)4326602-2 s DE-604 Upadhyaya, Meena Sonstige oth Erscheint auch als Online-Ausgabe 978-3-642-32864-0 X:MVB text/html http://deposit.dnb.de/cgi-bin/dokserv?id=4093069&prov=M&dok_var=1&dok_ext=htm Inhaltstext DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=025510864&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis
spellingShingle	Neurofibromatosis type 1 molecular and cellular biology Typ 1 (DE-588)4326602-2 gnd Neurofibromatose (DE-588)4171581-0 gnd
subject_GND	(DE-588)4326602-2 (DE-588)4171581-0 (DE-588)4143413-4
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
title_sub	molecular and cellular biology
topic	Typ 1 (DE-588)4326602-2 gnd Neurofibromatose (DE-588)4171581-0 gnd
topic_facet	Typ 1 Neurofibromatose Aufsatzsammlung
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