Neurocutaneous disorders:
The neurocutaneous disorders comprise a large group of neurological syndromes that feature skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, psychiatric symptoms, or seizures. Neurocutaneous syndromes have been known for centur...
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| Other Authors: | , |
|---|---|
| Format: | Electronic eBook |
| Language: | English |
| Published: |
Cambridge
Cambridge University Press
2004
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| Subjects: | |
| Online Access: | DE-12 DE-92 Volltext |
| Summary: | The neurocutaneous disorders comprise a large group of neurological syndromes that feature skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, psychiatric symptoms, or seizures. Neurocutaneous syndromes have been known for centuries, but recent research into their cellular, biochemical and molecular-genetic basis has pointed to an essential need for a genotypic nosology. In this book, a distinguished team of editors and authors provides an authoritative, illustrated, up-to-the-minute review of the current understanding of phenotype-genotype relationships in these disorders, as well as their recognition, investigation and treatment. It will be essential reading for all neurologists as well as dermatologists, geneticists and pediatricians |
| Item Description: | Title from publisher's bibliographic system (viewed on 05 Oct 2015) |
| Physical Description: | 1 online resource (xvii, 338 pages) |
| ISBN: | 9780511545054 |
| DOI: | 10.1017/CBO9780511545054 |
Staff View
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| 505 | 8 | |a Introduction / E. Steve Roach -- Genetics of neurocutaneous disorders / Kit-Sing Au and Hope Northrup -- Clinical recognition / Golder N. Wilson -- Neurofibromatosis type 1 / Joshua Goldstein and David H. Gutmann -- Neurofibromatosis type 2 / D. Gareth R. Evans -- Tuberous sclerosis complex / E. Steve Roach -- von Hippel-Lindau disease / Noel Baker and James A. Armstrong -- Neurocutaneous melanosis / Van S. Miller -- Nevoid basal cell carcinoma (Gorlin) syndrome / Robert J. Gorlin -- Epidermal nevus syndromes / Jeffrey L. Sugarman and Ilona J. Frieden -- Multiple endocrine neoplasia type 2 / Jeffrey B. Boord and Lewis S. Blevins -- Ataxia-telangiectasia / Van S. Miller -- Incontinentia pegment / Van S. Miller -- Hypomelanosis of Ito / Ignacio Pascuel-Castroviejo | |
| 505 | 8 | |a Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy / Pedro Mancias and Ian J. Butler -- Cerebrotendinous xanthomatosis / Aad Verrips, Johannes R.M. Cruysberg and Ron A. Wevers -- Adrenoleukodystrophy / Hugo W. Moser and Bjorn M. van Geel -- Peroxisomal disorders / Jeffrey Kane and E. Steve Roach -- Familial dysautonomia / Felicia B. Axelrod -- Fabry disease / E. Steve Roach -- Giant axonal neuropathy / Robert Chudnow -- Chediak-Higashi syndrome / Roula A. Farah and Zora R. Rogers -- Encephalocraniocutaneous lipomatosis / Marvin A. Fishman -- Cerebello-trigemino-dermal dysplasia / Maria Verónica Muñoz Rojas, António Carlos dos Santos and João Monteiro de Pina Neto -- Coffin-Siris syndrome: clinical delineation; differential diagnosis and long-term evolution / Jean-Pierre Fryns -- Lipoid proteinosis / Donna E. Newsome -- Macrodactyly-nerve fibrolipoma / E. Steve Roach | |
| 505 | 8 | |a Cowden disease / G.W. Padberg -- Pseudoxanthoma elasticum / Kenneth H. Neldner and E. Steve Roach -- Ehlers-Danlos syndromes / E. Steve Roach and Carol Zimmerman -- Hutchinson-Gilford progeria syndrome / E. Steve Roach -- Blue rubber bleb nevus syndrome / John M. Anderson -- Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) / Michael Morgan Dowling -- Hereditary neurocutaneous angiomatosis / Richard LeBlanc -- Cutaneous hemangiomas: vascular anomaly complex / Ignacio Pascual-Castroviejo -- Sturge-Weber syndrome / Anthony R. Riela and E. Steve Roach -- Lesch-Nyhan syndrome / William L. Nyhan -- Multiple carboxylase deficiency / Gerald M. So -- Homocystinuria due to cystathionine [beta]-synthase (CBS) deficiency / Raffaella de Franchis, Ennio del Giudice and Generoso Andria -- Fucosidosis / Michel Philippart -- Menkes disease / Zeynep Tümer and Nina Horn | |
| 520 | |a The neurocutaneous disorders comprise a large group of neurological syndromes that feature skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, psychiatric symptoms, or seizures. Neurocutaneous syndromes have been known for centuries, but recent research into their cellular, biochemical and molecular-genetic basis has pointed to an essential need for a genotypic nosology. In this book, a distinguished team of editors and authors provides an authoritative, illustrated, up-to-the-minute review of the current understanding of phenotype-genotype relationships in these disorders, as well as their recognition, investigation and treatment. It will be essential reading for all neurologists as well as dermatologists, geneticists and pediatricians | ||
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Record in the Search Index
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| author2 | Roach, E. Steve Miller, Van S. |
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| author_facet | Roach, E. Steve Miller, Van S. |
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| bvnumber | BV043944437 |
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| collection | ZDB-20-CBO |
| contents | Introduction / E. Steve Roach -- Genetics of neurocutaneous disorders / Kit-Sing Au and Hope Northrup -- Clinical recognition / Golder N. Wilson -- Neurofibromatosis type 1 / Joshua Goldstein and David H. Gutmann -- Neurofibromatosis type 2 / D. Gareth R. Evans -- Tuberous sclerosis complex / E. Steve Roach -- von Hippel-Lindau disease / Noel Baker and James A. Armstrong -- Neurocutaneous melanosis / Van S. Miller -- Nevoid basal cell carcinoma (Gorlin) syndrome / Robert J. Gorlin -- Epidermal nevus syndromes / Jeffrey L. Sugarman and Ilona J. Frieden -- Multiple endocrine neoplasia type 2 / Jeffrey B. Boord and Lewis S. Blevins -- Ataxia-telangiectasia / Van S. Miller -- Incontinentia pegment / Van S. Miller -- Hypomelanosis of Ito / Ignacio Pascuel-Castroviejo Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy / Pedro Mancias and Ian J. Butler -- Cerebrotendinous xanthomatosis / Aad Verrips, Johannes R.M. Cruysberg and Ron A. Wevers -- Adrenoleukodystrophy / Hugo W. Moser and Bjorn M. van Geel -- Peroxisomal disorders / Jeffrey Kane and E. Steve Roach -- Familial dysautonomia / Felicia B. Axelrod -- Fabry disease / E. Steve Roach -- Giant axonal neuropathy / Robert Chudnow -- Chediak-Higashi syndrome / Roula A. Farah and Zora R. Rogers -- Encephalocraniocutaneous lipomatosis / Marvin A. Fishman -- Cerebello-trigemino-dermal dysplasia / Maria Verónica Muñoz Rojas, António Carlos dos Santos and João Monteiro de Pina Neto -- Coffin-Siris syndrome: clinical delineation; differential diagnosis and long-term evolution / Jean-Pierre Fryns -- Lipoid proteinosis / Donna E. Newsome -- Macrodactyly-nerve fibrolipoma / E. Steve Roach Cowden disease / G.W. Padberg -- Pseudoxanthoma elasticum / Kenneth H. Neldner and E. Steve Roach -- Ehlers-Danlos syndromes / E. Steve Roach and Carol Zimmerman -- Hutchinson-Gilford progeria syndrome / E. Steve Roach -- Blue rubber bleb nevus syndrome / John M. Anderson -- Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) / Michael Morgan Dowling -- Hereditary neurocutaneous angiomatosis / Richard LeBlanc -- Cutaneous hemangiomas: vascular anomaly complex / Ignacio Pascual-Castroviejo -- Sturge-Weber syndrome / Anthony R. Riela and E. Steve Roach -- Lesch-Nyhan syndrome / William L. Nyhan -- Multiple carboxylase deficiency / Gerald M. So -- Homocystinuria due to cystathionine [beta]-synthase (CBS) deficiency / Raffaella de Franchis, Ennio del Giudice and Generoso Andria -- Fucosidosis / Michel Philippart -- Menkes disease / Zeynep Tümer and Nina Horn |
| ctrlnum | (ZDB-20-CBO)CR9780511545054 (OCoLC)849998466 (DE-599)BVBBV043944437 |
| dewey-full | 616.8 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.8 |
| dewey-search | 616.8 |
| dewey-sort | 3616.8 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| doi_str_mv | 10.1017/CBO9780511545054 |
| format | Electronic eBook |
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| id | DE-604.BV043944437 |
| illustrated | Not Illustrated |
| indexdate | 2024-08-14T00:53:56Z |
| institution | BVB |
| isbn | 9780511545054 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-029353407 |
| oclc_num | 849998466 |
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| owner | DE-12 DE-92 |
| owner_facet | DE-12 DE-92 |
| physical | 1 online resource (xvii, 338 pages) |
| psigel | ZDB-20-CBO ZDB-20-CBO BSB_PDA_CBO ZDB-20-CBO FHN_PDA_CBO |
| publishDate | 2004 |
| publishDateSearch | 2004 |
| publishDateSort | 2004 |
| publisher | Cambridge University Press |
| record_format | marc |
| spelling | Neurocutaneous disorders edited by E. Steve Roach and Van S. Miller Cambridge Cambridge University Press 2004 1 online resource (xvii, 338 pages) txt rdacontent c rdamedia cr rdacarrier Title from publisher's bibliographic system (viewed on 05 Oct 2015) Introduction / E. Steve Roach -- Genetics of neurocutaneous disorders / Kit-Sing Au and Hope Northrup -- Clinical recognition / Golder N. Wilson -- Neurofibromatosis type 1 / Joshua Goldstein and David H. Gutmann -- Neurofibromatosis type 2 / D. Gareth R. Evans -- Tuberous sclerosis complex / E. Steve Roach -- von Hippel-Lindau disease / Noel Baker and James A. Armstrong -- Neurocutaneous melanosis / Van S. Miller -- Nevoid basal cell carcinoma (Gorlin) syndrome / Robert J. Gorlin -- Epidermal nevus syndromes / Jeffrey L. Sugarman and Ilona J. Frieden -- Multiple endocrine neoplasia type 2 / Jeffrey B. Boord and Lewis S. Blevins -- Ataxia-telangiectasia / Van S. Miller -- Incontinentia pegment / Van S. Miller -- Hypomelanosis of Ito / Ignacio Pascuel-Castroviejo Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy / Pedro Mancias and Ian J. Butler -- Cerebrotendinous xanthomatosis / Aad Verrips, Johannes R.M. Cruysberg and Ron A. Wevers -- Adrenoleukodystrophy / Hugo W. Moser and Bjorn M. van Geel -- Peroxisomal disorders / Jeffrey Kane and E. Steve Roach -- Familial dysautonomia / Felicia B. Axelrod -- Fabry disease / E. Steve Roach -- Giant axonal neuropathy / Robert Chudnow -- Chediak-Higashi syndrome / Roula A. Farah and Zora R. Rogers -- Encephalocraniocutaneous lipomatosis / Marvin A. Fishman -- Cerebello-trigemino-dermal dysplasia / Maria Verónica Muñoz Rojas, António Carlos dos Santos and João Monteiro de Pina Neto -- Coffin-Siris syndrome: clinical delineation; differential diagnosis and long-term evolution / Jean-Pierre Fryns -- Lipoid proteinosis / Donna E. Newsome -- Macrodactyly-nerve fibrolipoma / E. Steve Roach Cowden disease / G.W. Padberg -- Pseudoxanthoma elasticum / Kenneth H. Neldner and E. Steve Roach -- Ehlers-Danlos syndromes / E. Steve Roach and Carol Zimmerman -- Hutchinson-Gilford progeria syndrome / E. Steve Roach -- Blue rubber bleb nevus syndrome / John M. Anderson -- Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) / Michael Morgan Dowling -- Hereditary neurocutaneous angiomatosis / Richard LeBlanc -- Cutaneous hemangiomas: vascular anomaly complex / Ignacio Pascual-Castroviejo -- Sturge-Weber syndrome / Anthony R. Riela and E. Steve Roach -- Lesch-Nyhan syndrome / William L. Nyhan -- Multiple carboxylase deficiency / Gerald M. So -- Homocystinuria due to cystathionine [beta]-synthase (CBS) deficiency / Raffaella de Franchis, Ennio del Giudice and Generoso Andria -- Fucosidosis / Michel Philippart -- Menkes disease / Zeynep Tümer and Nina Horn The neurocutaneous disorders comprise a large group of neurological syndromes that feature skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, psychiatric symptoms, or seizures. Neurocutaneous syndromes have been known for centuries, but recent research into their cellular, biochemical and molecular-genetic basis has pointed to an essential need for a genotypic nosology. In this book, a distinguished team of editors and authors provides an authoritative, illustrated, up-to-the-minute review of the current understanding of phenotype-genotype relationships in these disorders, as well as their recognition, investigation and treatment. It will be essential reading for all neurologists as well as dermatologists, geneticists and pediatricians Neurocutaneous disorders Skin / Diseases Nervensystem (DE-588)4041643-4 gnd rswk-swf Krankheit (DE-588)4032844-2 gnd rswk-swf Hautkrankheit (DE-588)4023852-0 gnd rswk-swf Hautkrankheit (DE-588)4023852-0 s Nervensystem (DE-588)4041643-4 s Krankheit (DE-588)4032844-2 s 1\p DE-604 Roach, E. Steve edt Miller, Van S. edt Erscheint auch als Druckausgabe 978-0-521-78153-4 https://doi.org/10.1017/CBO9780511545054 Verlag URL des Erstveröffentlichers Volltext 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Neurocutaneous disorders Introduction / E. Steve Roach -- Genetics of neurocutaneous disorders / Kit-Sing Au and Hope Northrup -- Clinical recognition / Golder N. Wilson -- Neurofibromatosis type 1 / Joshua Goldstein and David H. Gutmann -- Neurofibromatosis type 2 / D. Gareth R. Evans -- Tuberous sclerosis complex / E. Steve Roach -- von Hippel-Lindau disease / Noel Baker and James A. Armstrong -- Neurocutaneous melanosis / Van S. Miller -- Nevoid basal cell carcinoma (Gorlin) syndrome / Robert J. Gorlin -- Epidermal nevus syndromes / Jeffrey L. Sugarman and Ilona J. Frieden -- Multiple endocrine neoplasia type 2 / Jeffrey B. Boord and Lewis S. Blevins -- Ataxia-telangiectasia / Van S. Miller -- Incontinentia pegment / Van S. Miller -- Hypomelanosis of Ito / Ignacio Pascuel-Castroviejo Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy / Pedro Mancias and Ian J. Butler -- Cerebrotendinous xanthomatosis / Aad Verrips, Johannes R.M. Cruysberg and Ron A. Wevers -- Adrenoleukodystrophy / Hugo W. Moser and Bjorn M. van Geel -- Peroxisomal disorders / Jeffrey Kane and E. Steve Roach -- Familial dysautonomia / Felicia B. Axelrod -- Fabry disease / E. Steve Roach -- Giant axonal neuropathy / Robert Chudnow -- Chediak-Higashi syndrome / Roula A. Farah and Zora R. Rogers -- Encephalocraniocutaneous lipomatosis / Marvin A. Fishman -- Cerebello-trigemino-dermal dysplasia / Maria Verónica Muñoz Rojas, António Carlos dos Santos and João Monteiro de Pina Neto -- Coffin-Siris syndrome: clinical delineation; differential diagnosis and long-term evolution / Jean-Pierre Fryns -- Lipoid proteinosis / Donna E. Newsome -- Macrodactyly-nerve fibrolipoma / E. Steve Roach Cowden disease / G.W. Padberg -- Pseudoxanthoma elasticum / Kenneth H. Neldner and E. Steve Roach -- Ehlers-Danlos syndromes / E. Steve Roach and Carol Zimmerman -- Hutchinson-Gilford progeria syndrome / E. Steve Roach -- Blue rubber bleb nevus syndrome / John M. Anderson -- Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) / Michael Morgan Dowling -- Hereditary neurocutaneous angiomatosis / Richard LeBlanc -- Cutaneous hemangiomas: vascular anomaly complex / Ignacio Pascual-Castroviejo -- Sturge-Weber syndrome / Anthony R. Riela and E. Steve Roach -- Lesch-Nyhan syndrome / William L. Nyhan -- Multiple carboxylase deficiency / Gerald M. So -- Homocystinuria due to cystathionine [beta]-synthase (CBS) deficiency / Raffaella de Franchis, Ennio del Giudice and Generoso Andria -- Fucosidosis / Michel Philippart -- Menkes disease / Zeynep Tümer and Nina Horn Neurocutaneous disorders Skin / Diseases Nervensystem (DE-588)4041643-4 gnd Krankheit (DE-588)4032844-2 gnd Hautkrankheit (DE-588)4023852-0 gnd |
| subject_GND | (DE-588)4041643-4 (DE-588)4032844-2 (DE-588)4023852-0 |
| title | Neurocutaneous disorders |
| title_auth | Neurocutaneous disorders |
| title_exact_search | Neurocutaneous disorders |
| title_full | Neurocutaneous disorders edited by E. Steve Roach and Van S. Miller |
| title_fullStr | Neurocutaneous disorders edited by E. Steve Roach and Van S. Miller |
| title_full_unstemmed | Neurocutaneous disorders edited by E. Steve Roach and Van S. Miller |
| title_short | Neurocutaneous disorders |
| title_sort | neurocutaneous disorders |
| topic | Neurocutaneous disorders Skin / Diseases Nervensystem (DE-588)4041643-4 gnd Krankheit (DE-588)4032844-2 gnd Hautkrankheit (DE-588)4023852-0 gnd |
| topic_facet | Neurocutaneous disorders Skin / Diseases Nervensystem Krankheit Hautkrankheit |
| url | https://doi.org/10.1017/CBO9780511545054 |
| work_keys_str_mv | AT roachesteve neurocutaneousdisorders AT millervans neurocutaneousdisorders |