Tuberous sclerosis and allied disorders: clinical, cellular, and molecular studies ; [result of a conference held by the New York Academy of Sciences and the National Tuberous Sclerosis Association, in Bethesda, Md., Apr. 23 - 25, 1990]
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
New York, NY
New York Acad. of Sciences
1991
|
| Schriftenreihe: | Annals of the New York Academy of Sciences
615 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Literaturangaben |
| Beschreibung: | XII, 397 S. zahlr. Ill. und graph. Darst. |
| ISBN: | 0897666550 0897666569 |
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| adam_text | IMAGE 1
ANNALS OF THE NEW YORK ACADEMY
OF SCIENCES VOLUME 615
TUBEROUS SCLEROSIS AND
ALLIED DISORDERS CLINICAL, CELLULAR, AND MOLECULAR STUDIES
EDITED BY WILLIAM G. JOHNSON AND MANUEL R. GOMEZ
THE NEW YORK ACADEMY OF SCIENCES NEW YORK, NEW YORK 1991
IMAGE 2
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
VOLUME 615 APRIL 15, 1991
TUBEROUS SCLEROSIS AND ALLIED DISORDERS: CLINICAL, CELLULAR, AND
MOLECULAR STUDIES
EDITORS AND CONFERENCE CHAIRMEN WILLIAM G. JOHNSON AND MANUEL R. GOMEZ
CONTENTS
PREFACE. BY WILLIAM G. JOHNSON AND MANUEL R. GOMEZ XI
PART 1. CLINICAL PHENOTYPES OF TUBEROUS SCLEROSIS NERVOUS SYSTEM AND
RETINAL INVOLVEMENT
PHENOTYPES OF THE TUBEROUS SCLEROSIS COMPLEX WITH A REVISION OF
DIAGNOSTIC CRITERIA. BY MANUEL R. GOMEZ 1
NEUROPSYCHIATRIC ASPECTS OF TUBEROUS SCLEROSIS. BY P. CURATOLO, R.
CUSMAI, F. CORTTSI, C. CHIRON, I. JAMBAQUK, AND 0. DULAC 8
OPHTHALMIC MANIFESTATIONS OF TUBEROUS SCLEROSIS. BY DENNIS M. ROBERTSON
17
EXTRAMURAL MANIFESTATIONS
HISTORY AND SIGNIFICANCE OF WHITE MACULES, EARLIEST VISIBLE SIGN OF
TUBEROUS SCLEROSIS. BY THOMAS B. FITZPATRICK 26
RENAL INVOLVEMENT IN TUBEROUS SCLEROSIS. BY JAY BERNSTEIN AND
THOMAS O. ROBBINS 36
CARDIAC RHABDOMYOMAS IN TUBEROUS SCLEROSIS. BY G. H. WATSON 50
CARDIAC, PULMONARY, AND VASCULAR INVOLVEMENTS IN TUBEROUS SCLEROSIS. BY
J. T. LIE 5$
HAMARTOMATOUS RECTAL POLYPS ARE COMMON IN TUBEROUS SCLEROSIS. BY STUART
R. GOULD 71
THIS VOLUME IS THE RESULT OF A CONFERENCE ENTITLED TUBEROUS SCLEROSIS
AND ALLIED DISOR- DERS, WHICH WAS SPONSORED BY THE NEW YORK ACADEMY OF
SCIENCES AND THE NATIONAL TUBER- OUS SCLEROSIS ASSOCIATION AND HELD ON
APRIL 23-25, 1990 IN BETHESDA, MARYLAND.
IMAGE 3
PART 2. IMAGING IN TUBEROUS SCLEROSIS
IMAGING OF INTRACRANIAL TUBEROUS SCLEROSIS. BY O. WAYNE HOUSER, CHARLES
W. SHEPHERD, AND MANUEL R, GOMEZ 81
IMAGING OF TUBEROUS SCLEROSIS LESIONS OUTSIDE OF THE CENTRAL NERVOUS
SYSTEM. BY ALAN D. HOFFMAN 94
DIAGNOSIS OF SYMPTOMATIC AND ASYMPTOMATIC GENE CARRIERS OF TUBEROUS
SCLEROSIS BY CCT AND MRI. BY E. S. ROACH. JEI I REY KERR, DIANNE
MENDELSOHN, D. WAYNE LASIER. AND CATHERINE RAESIDE 112
PANEL DISCUSSION I: DEFINING CLINICAL AND KADIOLOGIC CRITERIA REQUIRED
LOR THE DEFINITIVE DIAGNOSIS OF TUBEROUS SCLEROSIS COMPLEX. SUMMARY OF
INDIVIDUAL PRESENTATIONS AND PANEL DISCUSSION. BV N. PAUL ROSMAN. 123
PART 3. EPIDEMIOLOGY OF TUHEROUS SCLEROSIS
EPIDEMIOLOGY OF TUBEROUS SCLEROSIS. BY JOHN P. OSBORNE, ALAN FRYER, AND
DAVID WEBB 125
PART 4. HISTOPATHOLOGY AND BIOCHEMICAL PATHOLOGY OF TUBEROUS SCLEROSIS
PATHOLOGY OF TUBEROUS SCLEROSIS. NEUROPATHOLOGIC ASPECTS. BY EDWARD P.
RICHARDSON, JR 128
CELLULAR NEUROPATHOLOGY OF TUBEROUS SCLEROSIS. BY PETER R.
HUTTENLOCHER AND ROBERT L. WOLLMANN 1 40
GLYCOPROTEIN AND PROTEOGLYCAN ALTERATIONS IN TUBEROUS SCLEROSIS. BY
ZHILA KHALKHALI-ELLKS, KEIRAN HENDERSON, AND FRANK W. HEMMING 149
PART 5. CELL BIOLOGY, NEURONAL MIGRATIONS, AND TUBEROUS SCLEROSIS
CELL LINEAGE AND CELL MIGRATION IN (HE NEURAL CREST. BY THOMAS E.
LALLIER 58
CELL ADHESION MOLECULES IN EMBRYOGENESIS AND DISEASE. BY KATHRYN L.
CROSSJN 172
CEREBRAL LESIONS OF TUBEROUS SCLEROSIS IN RELATION TO NORMAL
HISTOGENESIS. BY VERNE S. CAVINESS, JR. AND TAKAO TAKAHASHI . .. 87
NEURON-LIKE CELLS IN CULTURE OF TUBEROUS SCLEROSIS TISSUE. BV M.
DAVIDSON, H. YOSHIDOME, E. STENROOS, AND W. G. JOHNSON L 96
ORIGIN OF THE NEURON-LIKE CELLS IN TUBEROUS SCLEROSIS TISSUES BY W. G.
JOHNSON, H. YOSHIDOME, E. S. STENROOS, AND M. M. DAVIDSON .. 211
THE HEXABRACHION GENE AS A CANDIDATE FOR A TUBEROUS SCLEROSIS GENE.
BY JEFF GULCHER AND KARI STEFANSSON 2 20
IMAGE 4
ABNORMAL GENE EXPRESSIONS OF STROMA CELLS IN PATIENTS WITH TUBEROUS
SCLEROSIS. BY YASUMASA ISHIBASHI, RYOJI WATANABE, TOSHITATSU NOGITA,
TETSUO TAKAHASHI, KAZUKIYO ONODERA, AND GENKI KIMURA 228
PART 6. CYTOGENETICS IN TUBEROUS SCLEROSIS
A CYTOGENETIC ABNORMALITY IN TUBEROUS SCLEROSIS. REPORT OF AN AFFECTED
INFANT WITH 47,XX, + DER22,T(L 1;22) Q23.3;QL 1.2) MAT. BY ROBIN DAWN
CLARK 243
PART 7. LINKAGE ANALYSIS OF TUBEROUS SCLEROSIS
LOCATING DISEASE GENES THROUGH LINKAGE. SPECIAL PROBLEMS IN WORKING WITH
TUBEROUS SCLEROSIS. BY P. MICHAEL CONNEALLY 252
GENETIC HETEROGENEITY IN TUBEROUS SCLEROSIS. STUDY OF A LARGE
COLLABORATIVE DATASET. BY J. L. HAINES, J. AMOS, J. ATTWOOD, N. T.
BECH-HANSEN, M. BURLEY, P. M. CONNEALLY, J. M.
CONNOR, R. FAHSOLD, P. FLODMAN, A. FRYER, D. J. J. HALLEY, A. JEWELL, L.
A. J. JANSSEN, R. KANDT, H. NORTHRUP, J.
OSBORNE, M. PERICAK-VANCE, S. POVEY, J. SAMPSON, M. P.
SHORT, M. SMITH, M. SPEER, J. A. TROFATTER, AND J. R. W.
YATES 256
RECENT LINKAGE STUDIES IN TUBEROUS SCLEROSIS. CHROMOSOME 9 MARKER.
BY J. MICHAEL CONNOR AND JULIAN SAMPSON 265
GENETIC HETEROGENEITY IN TUBEROUS SCLEROSIS. MAP POSITION OF THE TSC2
LOCUS ON CHROMOSOME 1 LQ AND FUTURE PROSPECTS. BY MOYRA SMITH, K.
YOSHIYAMA, C. WAGNER, P. FLODMAN, AND B. SMITH. .. 274
LINKAGE STUDIES IN TUBEROUS SCLEROSIS. CHROMOSOME 9?, 1)?, OR MAYBE 14!
BY R. S. KANDT, M. A. PERICAK-VANCE, W.-Y. HUNG, R. J. M. GARDNER, P. E.
CROSSEN. M. D. NELLIST, M. C. SPEER, AND A. D.
ROSES 284
AN ATTEMPT TO MAP TWO GENES FOR TUBEROUS SCLEROSIS USING NOVEL TWO-POINT
METHODS. BY S. POVEY, J. ATTWOOD, L. A. J. JANSSEN, M. BURLEY, M. SMITH,
P. FLODMAN, N. E. MORTON, J. H. EDWARDS, J. R. SAMPSON, J. R. W. YATES,
J. L. HAINES, J. AMOS,
M. P. SHORT, L. A. SANDKUYL, D. J. J. HALLEY, A. E. FRYER, T.
BECH-HANSEN, R. MUELLER, L. AL-GHAZALI, M. SUPER, AND J.
OSBORNE 298
A COMPARATIVE STUDY ON GENETIC HETEROGENEITY IN TUBEROUS SCLEROSIS:
EVIDENCE FOR ONE GENE ON 9Q34 AND A SECOND GENE ON 1 LQ22-23. BY L. A.
J. JANSSEN, S. POVEY, J. ATTWOOD, L. A. SANDKUYL, D. LINDHOUT, P.
FLODMAN, M. SMITH, J. R. SAMPSON, J. L.
HAINES, E. C. MERKENS, P. FLEURY, P. SHORT, J. AMOS, AND D. J. J. HALLEY
306
IMAGE 5
PANEL DISCUSSION II: LINKAGE STUDIES IN TUBEROUS SCLEROSIS. CURRENT
STATUS AND FUTURE PROSPECTS. BY RAYMOND S. KANDT 316
PART 8. MOLECULAR BIOLOGY OF THE OTHER PHAKOMATOSES
THE NF1 TRANSLOCATION BREAKPOINT REGION. BY PETER O C O N N E L L.
RICHARD M. CAWTHON, DAVID VISKOCHIL. RAY WHITL, JOHN C.
CAREY, AND ARTHUR M. BUCHBERG 319
TOWARD THE ISOLATION OF THE PRIMARY GENETIC DEFECT IN VON HIPPEL-LINDAU
DISEASE. BY BI-RND K. SLIZINGI-;R 332
MOLECULAR GENETICS OF NEUROFIBROMATOSIS 2 AND RELATED TUMORS (ACOUSTIC
NEUROMA AND MENINGIOMA). BY BLIKTKAND FONTAINE, GUY A. ROULEAU. BERND R.
SEI/INGI R, ANII G. MENON. ANN F.
JEWELL, ROBERT L. MARTU/A, AND JAMES F. GUSLI.LA 338
HETEROGENEITY. BY J. H. EDWARDS 344
SUMMARY OF THE MEETING. BY JOHN EDWARDS 354
PART 9. POSTER PAPERS
LINKAGE STUDIES ON TUBEROUS SCLEROSIS WITH PROBES FOR CHROMOSOME UQ. BY
F. CORNLIS, C. JULIER, A. MALAFOSSE, M. LEBOYER, M. GOSSENS, J. MALLET,
AND M. LATHROP 360
ABNORMAL FIBRONECTIN PRODUCED IN TUBEROUS SCLEROSIS. BY Z.
KHALKHALI-ELLIS AND F. W. HEMMING 361
DEFINING THE CLINICAL PHENOTYPE OF VON HIPPEL-LINDAU DISEASE.
EXPERIENCE WITH A LARGE NEWFOUNDLAND FAMILY. BY J. S. GREEN, T.
CUMMINGS, M. BENSE, AND M. I. BOWMER 363
ESTIMATING PROBABILITY OF TUBEROUS SCLEROSIS FOR GENETIC LINKAGE
STUDIES. BY NICHOLAS J. LENN 365
ENAMEL PITTING. A COMMON SIGN OF TUBEROUS SCLEROSIS. BY GREG MLYNARCZYK
367
MEDICAL RESEARCH AND A TUBEROUS SCLEROSIS SUPPORT GROUP. BY DEBBIE
FIELDS MURPHY AND STEPHEN G. KAHLER 370
MOLECULAR BIOLOGY OF CULTURED CELLS FROM A PATIENT WITH TUBEROUS
SCLEROSIS. BY K. ONODERA, T. TAKAHASHI, S. ITO, G. KIMURA, R. WATANABE,
AND Y. ISHIBASHI 372
MORTALITY IN THE MAYO CLINIC TUBEROUS SCLEROSIS COMPLEX STUDY. BY C. W.
SHEPHERD AND M. R. GOMEZ 375
BRAIN TUMORS IN TUBEROUS SCLEROSIS. A CLINICOPATHOLOGIC STUDY OF THE
MAYO CLINIC EXPERIENCE. BY C. W. SHEPHERD, B. SCHEITHAUER, AND M. R.
GOMEZ 378
IMAGE 6
CLINICAL FINDINGS AND LINKAGE STUDIES IN FAMILIAL TUBEROUS SCLEROSIS. BY
M. P. SHORT, J. HAINES, A. JEWELL, B. BEJJANI, C. H. YANG. H. WYANDT, H.
MACFARLANE, E. ANDERMANN, D. KWIATKOWSKI, AND J. AMOS 380
AUTISM AND PSYCHIATRIC DISORDERS IN TUBEROUS SCLEROSIS. BY SUSAN
SMALLEY, M. SMITH, AND P. TANGUAY 382
LINKAGE STUDIES FOR MARKERS ON 9Q TO TUBEROUS SCLEROSIS. BY H.
NORTHRUP AND S. H. BLANTON 384
INDEX OF CONTRIBUTORS 387
SUBJECT INDEX 389
FINANCIAL ASSISTANCE WAS RECEIVED FROM: MAJOR FUNDER * THE NATIONAL
TUBEROUS SCLEROSIS ASSOCIATION SUPPORTER
* NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE/NIH
CONTRIBUTOR * PARKE-DAVIS
THE NEW YORK ACADEMY OF SCIENCES BELIEVES IT HAS A RESPONSIBILITY TO
PROVIDE AN OPEN FORUM FOR DISCUSSION OF SCIENTIFIC QUESTIONS. THE
POSILIONS TAKEN BY THE PARTICI- PANTS IN THE REPORTED CONFERENCES ARE
THEIR OWN AND NOT NECESSARILY THOSE OF THE ACADEMY. THE ACADEMY HAS NO
INTENT TO INFLUENCE LEGISLATION BY PROVIDING SUCH FORUMS.
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| genre | (DE-588)1071861417 Konferenzschrift 1990 Bethesda Md. gnd-content |
| genre_facet | Konferenzschrift 1990 Bethesda Md. |
| id | DE-604.BV004418983 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T16:12:48Z |
| institution | BVB |
| isbn | 0897666550 0897666569 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-002742039 |
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| owner_facet | DE-12 DE-355 DE-BY-UBR DE-20 DE-29 DE-188 |
| physical | XII, 397 S. zahlr. Ill. und graph. Darst. |
| publishDate | 1991 |
| publishDateSearch | 1991 |
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| series2 | Annals of the New York Academy of Sciences |
| spelling | Tuberous sclerosis and allied disorders clinical, cellular, and molecular studies ; [result of a conference held by the New York Academy of Sciences and the National Tuberous Sclerosis Association, in Bethesda, Md., Apr. 23 - 25, 1990] ed. by William G. Johnson ... New York, NY New York Acad. of Sciences 1991 XII, 397 S. zahlr. Ill. und graph. Darst. txt rdacontent n rdamedia nc rdacarrier Annals of the New York Academy of Sciences 615 Literaturangaben Tuberöse Hirnsklerose (DE-588)4186390-2 gnd rswk-swf (DE-588)1071861417 Konferenzschrift 1990 Bethesda Md. gnd-content Tuberöse Hirnsklerose (DE-588)4186390-2 s DE-604 Johnson, William G. 1942- Sonstige (DE-588)1068380403 oth Annals of the New York Academy of Sciences 615 (DE-604)BV002532608 615 GBV Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=002742039&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Tuberous sclerosis and allied disorders clinical, cellular, and molecular studies ; [result of a conference held by the New York Academy of Sciences and the National Tuberous Sclerosis Association, in Bethesda, Md., Apr. 23 - 25, 1990] Annals of the New York Academy of Sciences Tuberöse Hirnsklerose (DE-588)4186390-2 gnd |
| subject_GND | (DE-588)4186390-2 (DE-588)1071861417 |
| title | Tuberous sclerosis and allied disorders clinical, cellular, and molecular studies ; [result of a conference held by the New York Academy of Sciences and the National Tuberous Sclerosis Association, in Bethesda, Md., Apr. 23 - 25, 1990] |
| title_auth | Tuberous sclerosis and allied disorders clinical, cellular, and molecular studies ; [result of a conference held by the New York Academy of Sciences and the National Tuberous Sclerosis Association, in Bethesda, Md., Apr. 23 - 25, 1990] |
| title_exact_search | Tuberous sclerosis and allied disorders clinical, cellular, and molecular studies ; [result of a conference held by the New York Academy of Sciences and the National Tuberous Sclerosis Association, in Bethesda, Md., Apr. 23 - 25, 1990] |
| title_full | Tuberous sclerosis and allied disorders clinical, cellular, and molecular studies ; [result of a conference held by the New York Academy of Sciences and the National Tuberous Sclerosis Association, in Bethesda, Md., Apr. 23 - 25, 1990] ed. by William G. Johnson ... |
| title_fullStr | Tuberous sclerosis and allied disorders clinical, cellular, and molecular studies ; [result of a conference held by the New York Academy of Sciences and the National Tuberous Sclerosis Association, in Bethesda, Md., Apr. 23 - 25, 1990] ed. by William G. Johnson ... |
| title_full_unstemmed | Tuberous sclerosis and allied disorders clinical, cellular, and molecular studies ; [result of a conference held by the New York Academy of Sciences and the National Tuberous Sclerosis Association, in Bethesda, Md., Apr. 23 - 25, 1990] ed. by William G. Johnson ... |
| title_short | Tuberous sclerosis and allied disorders |
| title_sort | tuberous sclerosis and allied disorders clinical cellular and molecular studies result of a conference held by the new york academy of sciences and the national tuberous sclerosis association in bethesda md apr 23 25 1990 |
| title_sub | clinical, cellular, and molecular studies ; [result of a conference held by the New York Academy of Sciences and the National Tuberous Sclerosis Association, in Bethesda, Md., Apr. 23 - 25, 1990] |
| topic | Tuberöse Hirnsklerose (DE-588)4186390-2 gnd |
| topic_facet | Tuberöse Hirnsklerose Konferenzschrift 1990 Bethesda Md. |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=002742039&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV002532608 |
| work_keys_str_mv | AT johnsonwilliamg tuberoussclerosisandallieddisordersclinicalcellularandmolecularstudiesresultofaconferenceheldbythenewyorkacademyofsciencesandthenationaltuberoussclerosisassociationinbethesdamdapr23251990 |