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  • 1
    Keywords: Neurofibromatoses genetics ; Neurofibromatoses physiopathology ; Dermatology ; Genetics ; Genomics ; Molecular Biology ; Neurology ; Neurosurgery ; Pediatrics
    Description / Table of Contents: The neurofibromatoses are autosomal-dominant genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissue. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. In recent years, the genes and mutations causing neurofibromatoses have been identified. The main types of neurofibromatoses, type 1 (NF1) and type 2 (NF2), have been shown to be distinctive disorders both clinically and genetically. More recently, allelic and non-allelic subtypes of NF1 have been defined as well as the NF2-related condition schwannomatosis. Many of the complex molecular mechanisms leading to the neurofibromatoses have been elucidated, resulting in a growing body of publications which are difficult to keep up with.This volume provides an important overview of recent findings on the neurofibromatoses. It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. With contributions by the foremost investigators in the field, this timely book will appeal to geneticists, genetic counselors, pediatricians, neurologists and oncologists
    Type of Medium: Online Resource
    Pages: X + 192 S
    Edition: Online-Ausg. Online-Ressource Karger eBooks Collection 1997-2009
    ISBN: 9783805585217
    Series Statement: Monographs in human genetics 16
    RVK:
    Language: English
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  • 2
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    The @journal of organic chemistry 53 (1988), S. 152-161 
    ISSN: 1520-6904
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Berichte der deutschen chemischen Gesellschaft 120 (1987), S. 1331-1338 
    ISSN: 0009-2940
    Keywords: Chemistry ; Inorganic Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Description / Table of Contents: Flash Vacuum Pyrolysis Of o-Alkyaryl- and Arylalkylchloroboranes. - Synthesis of Benzoannutated Boracycloalkenes The dichloroorganylboranes chosen as pyrolytic starting materials were synthesized upon treatment of the corresponding triorganylboroxines and aryltrimethylsilanes (giving 3, 4) or the tetraorganylstannanes (giving 9-12, 17-20) with boron trichloride. At 700°C the flash vacuum pyrolysis of the dichloro(2-ethylphenyl)boranes 10 and 4 led to 1-boraindanes 21 and 22 selectively. The dichloro-2-tolylborane (9), the B-dimethylamino derivative, and mesitylboranes like 3 were completely stable upon pyrolysis. Pyrolyzing the isopropylphenylborane 12 1,5-elimination exclusively took place yielding 26, while pyrolysis of propylphenylborane 11 led to a mixture of boraindane 29 and boratetraline 30. To exclude such competitive reactions, some arylalkyldichloroboranes were pyrolyzed. At 750°C dichloro(2-methylbenzyl)borane (18) exclusively yielded oligomeric 2-chloro-2-boraindane (31). At 950°C even the pyrolysis of benzyldichloroborane (17) succeeded in a 1,4-elimination reaction yielding the eight-membered 2H-benzoborete dimer 34. The inversion barrier of 34 is ΔG228=10.3 kcal mol-1, determined by NMR spectroscopy. The pyrolysis of the next-higher homologous dichloroorganylborane 19 yielded a boraindane 21 and a noncyclic diorganylborane 38 by a dehydroboration/hydroboration pathway. Both reaction types also took place when pyrolyzing dichloro[2-(2-tolyl)ethyl]borane (20): cyclization under formation of a five-membered ring system 39, formed upon attack of an aromatic C-H bond exclusively, and formation of an open-chain chlorodiorganylborane 40.
    Notes: Die als Pyrolyse-Edukte eingesetzten Dichlororganylborane wurden durch Umsetzung der entsprechenden Triorganylboroxine und Aryltrimethylsilane (zu 3, 4) oder der Tetraorganylstannane (zu 9-12, 17-20) mit Bortrichlorid gewonnen. Die Blitzvakuumpyrolyse der Dichlor(2-ethylphenyl)borane 10 und 4 führte bei 700°C selektiv zu den 1-Boraindanen 21 und 22. Das Dichlor-2-tolylboran (9) war thermisch ebenso stabil wie das B-Dimethylamino-Derivat und Mesitylborane wie 3. Auch bei der Pyrolyse des Isopropylphenylborans 12 trat ausschließlich 1,5-Eliminierung unter Bildung von 26 ein, während die Pyrolyse des Propylphenylborans 11 zu einem Gemisch aus Boraindan 29 und Boratetralin 30 führte. Um derartige intramolekulare Konkurrenzsituationen auszuschließen, wurden Arylalkyldichlorborane pyrolysiert. Dichlor(2-methylbenzyl)boran (18) lieferte bei 750°C ausschließlich oligomeres 2-Chlor-2-boraindan (31). Bei 950°C reagierte sogar Benzyldichlorboran (17) unter 1,4-Eliminierung zu dem achtgliedrigen 2H-Benzoboret-Dimeren 34. Die Inversionsbarriere von 34 wurde NMR-spektroskopisch zu ΔG228=10.3 kcal mol-1 bestimmt. Die Pyrolyse des nächsthöheren homologen Dichlororganylborans 19 lieferte ein Boraindan (21) und ein nichtcyclisches Diorganylboran 38 über eine Dehydroborierungs-/Hydroborierungsreaktion. Beide Reaktionstypen wurden auch bei der Pyrolyse von Dichlor[2-(2-tolyl)ethyl]boran (20) beobachtet: Cyclisierung ausschließlich unter Fünfringbildung (39) durch Angriff einer aromatischen C-H-Bindung und Bildung eines offenkettigen Chlordiorganylborans (40).
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Berichte der deutschen chemischen Gesellschaft 120 (1987), S. 853-854 
    ISSN: 0009-2940
    Keywords: Chemistry ; Inorganic Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: Upon treatment with trihaloboranes 2b-d the phenyltrimethylsilanes 1, 6, 8, and 10 yield the corresponding phenyldihaloboranes 3, 7, 9, and 11 with high selectivity. Benzylsilanes are not attacked.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Berichte der deutschen chemischen Gesellschaft 120 (1987), S. 901-905 
    ISSN: 0009-2940
    Keywords: Chemistry ; Inorganic Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Description / Table of Contents: Upon treatment with trihaloboranes 4a and 4b the bissilylated benzenes 1, 2, and 3 yield the silylated dihalogenphenylboranes 5a-7b under substitution of one silyl group only. The corresponding difluoroboranes 5c-7c are easily accessible by a new fluorination method under mild reaction conditions by treating the dichloroboranes with lithium fluoride in ether. Upon heating with excess 4 the exchange of the second silyl group occurs, too, yielding the position-isomeric diborylbenzenes 9, 10, and 11. The bromination of the silylated dichlorophenylboranes 5a-7a proceeds with high regioselectivity under desilyation yielding 12, 13, and 14. The dimethoxyboranes 15, 16, and 17, synthesized by methanolysis of the corresponding dichloroboranes, can be coupled with bromobenzene under palladium(O) catalysis to yield the position-isomeric silylated biphenyls 18, 19, and 20.
    Notes: Die zweifach silylierten Benzole 1, 2 und 3 reagieren mit 4a, b unter Ersatz einer Silylgruppe zu den silylierten Dihalogenphenylboranen 5a-7b. Die entsprechenden Difluorborane 5c-7c sind mit einer neuen Fluorierungsmethode leicht zugänglich durch Umsetzung der Dichlorborane mit Lithiumfluorid in Ether. Durch Erhitzen mit überschüssigem 4 gelingt der Austausch der zweiten Silylgruppe unter Bildung der stellungsisomeren Diborylbenzole 9, 10 und 11. Die silylierten Dichlorphenylborane 5a-7a werden regioselektiv unter Desilylierung zu 12, 13 und 14 bromiert. Die durch Methanolyse der Dichlorborane erhaltenen Dimethoxyborane 15-17 lassen sich Palladium(O)-katalysiert mit Brombenzol zu den drei stellungsisomeren silylierten Biphenylen 18-20 kuppeln.
    Additional Material: 1 Tab.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Berichte der deutschen chemischen Gesellschaft 120 (1987), S. 991-994 
    ISSN: 0009-2940
    Keywords: Chemistry ; Inorganic Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Description / Table of Contents: Treatment of tribromoborane (9) with the 3-, 4-, and 4,4′ -silylated biphenyls 7, 8, and 18 leads to substitution of the silyl groups with formation of the aryldibromoboranes 10, 11, and 19, whereas depending on the solvent the 2-iomers 12 and 4 suffer methyl abstraction to predominatly yield 14 and 20. The reaction of the silafluorene 15 with 9 exclusively leads to the dibenzoborole 16. In the first step of the reaction of the 2,2′,3,3′-tetrakissilylated biphenyl 6 with 9 the bissilylated silafluorene 21 is formed, in the second a twofold abstraction of a methyl group yields 22, as the central dimethylsilylene group is too much shielded for an exchange reaction. 22 is a well suited building block for constructing cyclic oligosilanes.
    Notes: Von den silylierten Biphenylen reagieren das 3-(7) und die 4-bzw. 4,4′-Isomeren (8, 18) mit Tribromboran (9) glatt unter Ersatz der Trimethylsilygruppen zu den Aryldibromboranen 10, 11 und 19, während bei dem 2-(12) bzw. 2,2′-Isomeren (4) lösungsmittelabhängig überwiegend Methylabspaltung unter Bildung von 14 bzw. 20 eintritt. Das Silafluoren 15 regiert mit 9 dagegen ausschließlich zum Dibenzoborol 16. Die Umsetzung des 2,2′,3,3′-tetrakissilylierten Biphenyls 6 mit 9 führt zuerst zu dem zweifach silylierten Silafluoren 21, dann jedoch unter zweifacher Methylabspaltung zu 22, da die zentrale Dimethylsilyleneinheit für einen Austausch sterisch zu sehr abgeschirmt ist. 22 ist ein geeigneter Baustein zum Aufbau von Oligosilacyclen.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Zeitschrift für die chemische Industrie 99 (1987), S. 682-683 
    ISSN: 0044-8249
    Keywords: Chemistry ; General Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Additional Material: 1 Tab.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Angewandte Chemie International Edition in English 26 (1987), S. 665-666 
    ISSN: 0570-0833
    Keywords: Chemistry ; General Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Additional Material: 1 Tab.
    Type of Medium: Electronic Resource
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