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Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics : Clinical Principles and Applications
| Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics : Clinical Principles and Applications |
| Autore | Pyeritz Reed E |
| Edizione | [7th ed.] |
| Pubbl/distr/stampa | San Diego : , : Elsevier Science & Technology, , 2018 |
| Descrizione fisica | 1 online resource : illustrations (some color) |
| Disciplina | 616.042 |
| Altri autori (Persone) |
KorfBruce R
GrodyWayne W |
| Soggetto topico |
Medical genetics
Genomics Genetics, Medical Genetic Diseases, Inborn |
| ISBN | 0-12-812684-1 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | A Clinical approach to the dysmorphic child -- Clinical teratology -- Neurodevelopmental disabilities: global developmental delay, intellectual disability, and autism -- Abnormal body size and proportion -- Cytogenetic analysis -- Diagnostic molecular genetics -- Therapies for lysosomal storage diseases -- Transplantation genetics -- Genetic evaluation for common, chronic disorders of adulthood 265 -- Carrier screening and heterozygote testing -- Circadian rhythms and disease -- The Genomic health record: current status and vision for the future -- Ethical and social issues in clinical genetics -- Genetics and genomics in public health -- Implementation of genomic medicine: an international perspective. |
| Record Nr. | UNINA-9910583376903321 |
Pyeritz Reed E
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| San Diego : , : Elsevier Science & Technology, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Medical genetics at a glance [[electronic resource] /] / Dorian J. Pritchard, Bruce R. Korf
| Medical genetics at a glance [[electronic resource] /] / Dorian J. Pritchard, Bruce R. Korf |
| Autore | Pritchard D. J (Dorian J.) |
| Edizione | [3rd ed.] |
| Pubbl/distr/stampa | Chichester, England, : Wiley-Blackwell, c2013 |
| Descrizione fisica | 1 online resource (233 p.) |
| Disciplina | 616/.042 |
| Altri autori (Persone) | KorfBruce R |
| Collana | At a Glance |
| Soggetto topico |
Genetic disorders
Chromosome abnormalities Medical genetics |
| Soggetto genere / forma | Electronic books. |
| ISBN |
1-118-68900-3
1-118-68902-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; Title page; Copyright page; Contents; Preface to the first edition; Preface to the third edition; Acknowledgements; List of abbreviations; Part 1 : Overview; 1: The place of genetics in medicine; The case for genetics; Genes in development; Genotype and phenotype; Genetics in medicine; The application of genetics; Part 2 : The Mendelian approach; 2: Pedigree drawing; Overview; The medical history; Rules for pedigree diagrams; The practical approach; Use of pedigrees; 3: Mendel's laws; Overview; The principle of unit inheritance; The principle of dominance; The principle of segregation
Example The principle of independent assortment; Example; The test-mating; Matings between double heterozygotes; Biological support for Mendel's laws; Exceptions to Mendel's laws; 1. Sex-related effects; 2. Mitochondrial inheritance; 3. Genetic linkage; 4. Polygenic conditions; 5. Overdominance, codominance, variable expressivity and incomplete penetrance; 6. Genomic imprinting; 7. Dynamic mutation; 8. Meiotic drive; Conclusion; 4: Principles of autosomal dominant inheritance and pharmacogenetics; Overview; Rules for autosomal dominant inheritance; Example; Estimation of risk Estimation of mutation rate Pharmacogenetics; Debrisoquine hydroxylase deficiency (AR); Porphyria variegata (AD); G6PD deficiency (X-linked R) (see Chapter 11); N-acetyl transferase deficiency (AR); Pseudocholinesterase deficiency (AR); Halothane sensitivity, malignant hyperthermia (genetically heterogeneous); Thiopurine methyltransferase deficiency (ACo-D); 5: Autosomal dominant inheritance, clinical examples; Overview; Disorders of the fibroblast growth factor receptors; Achondroplasia; Marfan syndrome (MFS); Familial hypercholesterolaemia (FH); Dentinogenesis imperfecta 1 (DGI) Otosclerosis 1 (OTSC1)Adult polycystic kidney disease (APKD, PKD); Multiple hereditary exostoses (EXT); 6: Autosomal recessive inheritance, principles; Overview; Rules for autosomal recessive inheritance; Example: albinism; Estimation of risk; Example: congenital deafness; 7: Consanguinity and major disabling autosomal recessive conditions; Overview; Management issues; Consanguineous matings; Incestuous matings; Brother-sister matings; Parent-child matings; Risk for offspring; First cousin marriages; Mental handicap; Oculocutaneous albinism; Recessive blindness; Retinitis pigmentosa (RP) Severe congenital deafness Connexin 26 defects (CX26); Pendred syndrome (PDS); 8: Autosomal recessive inheritance, life-threatening conditions; Overview; Cystic fibrosis (CF); Tay-Sachs disease, GM2 gangliosidosis; Phenylketonuria (PKU); Spinal muscular atrophy (SMA); 9: Aspects of dominance; Overview; Codominance (Co-D), the ABO blood groups; Incomplete dominance, overdominance and heterosis; Incomplete penetrance; Delayed onset; Variable expressivity; Neurofibromatosis type 1 (NF1), Von Recklinghausen disease; 10: X-linked and Y-linked inheritance; Overview Rules of X-linked recessive inheritance |
| Record Nr. | UNINA-9910452185503321 |
|
Pritchard D. J (Dorian J.)
|
||
| Chichester, England, : Wiley-Blackwell, c2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Medical genetics at a glance [[electronic resource] /] / Dorian J. Pritchard, Bruce R. Korf
| Medical genetics at a glance [[electronic resource] /] / Dorian J. Pritchard, Bruce R. Korf |
| Autore | Pritchard D. J (Dorian J.) |
| Edizione | [3rd ed.] |
| Pubbl/distr/stampa | Chichester, England, : Wiley-Blackwell, c2013 |
| Descrizione fisica | 1 online resource (231 pages) : illustrations (some color), graphs |
| Disciplina | 616/.042 |
| Altri autori (Persone) | KorfBruce R |
| Collana | At a glance |
| Soggetto topico |
Chromosome abnormalities
Genetic disorders Medical genetics |
| ISBN |
1-118-68902-X
1-118-68900-3 1-118-68901-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Overview -- The Mendelian approach -- Basic cell biology -- Basic molecular biology -- Genetic variation -- Organization of the human genome -- Cytogenetics -- Embryology and congenital abnormalities -- Multifactorial inheritance and twin studies -- Cancer -- Biochemical genetics -- Immunogenetics -- Molecular diagnosis -- Genetic counselling, disease management, ethical and social issues. |
| Record Nr. | UNINA-9910796082103321 |
|
Pritchard D. J (Dorian J.)
|
||
| Chichester, England, : Wiley-Blackwell, c2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Medical genetics at a glance / / Dorian J. Pritchard, Bruce R. Korf
| Medical genetics at a glance / / Dorian J. Pritchard, Bruce R. Korf |
| Autore | Pritchard D. J (Dorian J.) |
| Edizione | [3rd ed.] |
| Pubbl/distr/stampa | Chichester, England, : Wiley-Blackwell, c2013 |
| Descrizione fisica | 1 online resource (231 pages) : illustrations (some color), graphs |
| Disciplina | 616/.042 |
| Altri autori (Persone) | KorfBruce R |
| Collana | At a glance |
| Soggetto topico |
Chromosome abnormalities
Genetic disorders Medical genetics |
| ISBN |
9781118689028
111868902X 9781118689004 1118689003 9781118689011 1118689011 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Overview -- The Mendelian approach -- Basic cell biology -- Basic molecular biology -- Genetic variation -- Organization of the human genome -- Cytogenetics -- Embryology and congenital abnormalities -- Multifactorial inheritance and twin studies -- Cancer -- Biochemical genetics -- Immunogenetics -- Molecular diagnosis -- Genetic counselling, disease management, ethical and social issues. |
| Record Nr. | UNINA-9910975293003321 |
|
Pritchard D. J (Dorian J.)
|
||
| Chichester, England, : Wiley-Blackwell, c2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||