| Description |
1 online resource (792 p.) |
| Contents |
Front Cover -- Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics -- Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics -- Copyright -- Contents -- List of Contributors -- Preface to the Seventh Edition of Emery and Rimoin' s Principles and Practice of Medical Genetics and Genomics -- Preface to Metabolic Disorders -- 1 -- Disorders of the Body Mass -- 1.1 OVERVIEW -- 1.2 DEFINITION -- 1.2.1 Heritability of BMI -- 1.3 WHY ARE SO MANY HUMANS GENETICALLY PRONE TO OBESITY? -- 1.3.1 Genetic Architecture of Obesity -- 1.4 MONOGENIC OBESITY |
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1.5 LEPTIN AND LEPTIN RECEPTOR MUTATIONS -- 1.5.1 SH2B Adaptor Protein 1 -- 1.5.2 Pro-Opiomelanocortin -- 1.5.3 Pro-Protein Convertase Subtilin/Kinexin Type 1 Gene -- 1.5.4 Melanocortin 4 Receptor -- 1.5.5 Melanocortin Receptor 3 -- 1.5.6 Other Genes Involved in Monogenic Obesity -- 1.6 SYNDROMIC OBESITY -- 1.6.1 Prader-Willi Syndrome -- 1.6.2 Bardet-Biedl Syndrome -- 1.6.3 Alstrom Syndrome -- 1.6.4 WAGR Syndrome -- 1.6.5 Cohen Syndrome -- 1.6.6 16p11.2 (Micro) Deletions -- 1.6.7 Other Copy Number Variants and Variable Number of Tandem Repeats -- 1.7 POLYGENIC OBESITY |
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1.7.1 Linkage and Candidate Gene Studies of the Genetics of Human Obesity -- 1.7.2 Genome-Wide Association Studies in Humans -- 1.7.3 Next Generation Sequencing -- 1.8 GENES ASSOCIATED WITH POLYGENIC OBESITY -- 1.8.1 Fat Mass and Obesity-Associated -- 1.8.2 Peroxisome Proliferator-Activated Receptor Gamma Genes -- 1.8.3 Beta 2- and Beta 3-Adrenergic Receptor Genes -- 1.8.4 Melanocortin 4 Receptor -- 1.8.5 Uncoupling Protein Genes -- 1.9 ROLE OF GENETIC TESTING IN THE MANAGEMENT OF OBESITY -- REFERENCES -- 2 -- Genetic Lipodystrophies -- 2.1 INTRODUCTION -- 2.2 GENETIC LIPODYSTROPHIES |
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2.2.1 Autosomal Recessive Types -- 2.2.1.1 Congenital Generalized Lipodystrophy (CGL, Berardinelli-Seip Syndrome) -- 2.2.1.1.1 Clinical and biochemical characteristics. The affected newborns appear "strikingly muscular" due to almost complete ab... -- 2.2.1.1.2 Genetic defect and pathophysiology. Using genome-wide linkage analysis, we reported the first locus for CGL on human c... -- 2.2.1.1.3 Genotype and phenotype variation. There are phenotypic differences in the two most prevalent types of CGL, called type.. |
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2.2.1.1.4 Molecular and differential diagnosis. Patients with CGL can be easily diagnosed at birth or immediately thereafter. Th... -- 2.2.1.2 Mandibuloacral Dysplasia Associated Lipodystrophy -- 2.2.1.2.1 MAD-associated partial lipodystrophy (type A) due to LMNA mutations. Novelli et al. [51] reported a homozygous p.Arg52... -- 2.2.1.2.2 MAD-associated generalized lipodystrophy (type B) due to zinc metalloproteinase (ZMPSTE24) mutations. Based on the cri... -- 2.2.1.2.3 Genotype and phenotype variation. About 40 patients have been reported to have MAD due to LMNA mutations, but only 12 .. |
| Notes |
Description based upon print version of record |
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2.2.1.2.4 Molecular and differential diagnosis. Ascertaining molecular diagnosis may help predict peculiar clinical features not.. |
| Form |
Electronic book
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| Author |
Korf, Bruce R
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Grody, Wayne W
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| ISBN |
9780128126837 |
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0128126833 |
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