Volume 61 1992

Prader-Willi Syndrome

and Other Chromosome 15q Deletion Disorders

Editors:

ISBN: 978-3-642-84285-6 (Print) 978-3-642-84283-2 (Online)

Table of contents (29 chapters)

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  1. Front Matter

    Pages I-XII

  2. Introduction and Overview of Prader-Willi Syndrome

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      Book Chapter

      Pages 1-11

      Introduction and Overview of Prader-Willi Syndrome

  3. Molecular Genetics of Prader-Willi and Angelman Syndromes

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      Book Chapter

      Pages 13-16

      Microdissection and Molecular Analysis of Proximal 15q

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      Book Chapter

      Pages 17-26

      The Irregular Inheritance of Angelman Syndrome and Prader-Willi Syndrome

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      Book Chapter

      Pages 27-32

      Characterization of cDNA Clones Corresponding to Genomic Loci Rearranged in Patients with Prader-Willi Syndrome

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      Book Chapter

      Pages 33-40

      Possible Genomic Imprinting at the Angelman Syndrome Gene Locus

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      Book Chapter

      Pages 41-51

      Molecular Analysis in Angelman Syndrome. Prader-Willi Syndrome and Potental Mouse Models

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      Book Chapter

      Pages 53-58

      Clinical, Molecular, and Cytogenetic Survey of Potential Prader-Willi Syndrome Patients

  4. Cytogenetics of Prader-Willi and Angelman Syndromes

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      Book Chapter

      Pages 59-74

      Cytogenetic Comparison between Prader-Willi and Angelman Syndromes

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      Book Chapter

      Pages 75-94

      Mosaicism for Deletion 15q11q13 in Sporadic and Familial Cases

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      Book Chapter

      Pages 95-100

      Prader-Willi Syndrome and Angelman Syndrome in Two Female Cousins as a Result of a Familial Translocation

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      Book Chapter

      Pages 101-104

      Implications for the Recurrence Risk in the Prader-Willi Syndrome on the Basis of Proposed Genomic Imprinting

  5. Clinical Aspects of Prader-Willi Syndrome: National Studies

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      Book Chapter

      Pages 105-117

      Diagnostic Criteria for Prader-Willi Syndrome

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      Book Chapter

      Pages 119-128

      An Australian Collaborative Study of Prader-Willi Syndrome Individuals and Their Families

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      Book Chapter

      Pages 129-130

      A Family Focused Care Model for PWS in Norway - The Frambu Experience

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      Book Chapter

      Pages 131-136

      Prader-Willi Syndrome in Norway an Epidemiological and Sociomedical Study

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      Book Chapter

      Pages 137-145

      A Multicenter Italian Study on Prader-Willi Syndrome

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      Book Chapter

      Pages 147-151

      A Comparison of Characteristics in 33 Japanese and 83 American Patients with Prader-Willi Syndrome

  6. Clinical Aspects of Prader-Willi Syndromes Endocrine Studies

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      Book Chapter

      Pages 153-169

      Endocrine Physiology and Therapy in Prader-Willi Syndrome

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      Book Chapter

      Pages 171-174

      Growth Hormone Evaluation and Treatment in Prader-Willi Syndrome

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      Book Chapter

      Pages 175-180

      Diminished 24 Hour Urinary Growth Hormone Excretion in Patients With Prader-Willi Syndrome

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