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20240329122006.0 |
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130816s2013 xx ob 001 0 eng d |
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|a IDEBK
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|a 1299738249
|q (ebk)
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|a 9781299738249
|q (ebk)
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|a 9780470656549
|q (softback ;
|q alk. paper)
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|a 0470656549
|q (softback ;
|q alk. paper)
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|a 9781118689004
|q (mobi)
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|a 1118689003
|q (mobi)
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|a 9781118689011
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|a 1118689011
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|a 9781118689028
|q (pdf)
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|a 111868902X
|q (pdf)
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|a DEBBG
|b BV041908948
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|a (OCoLC)855906469
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|a 505075
|b MIL
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|a RB155
|b .P6965 2013eb
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| 082 |
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|a 616.042
|2 23
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| 049 |
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|a UAMI
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| 100 |
1 |
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|a Pritchard, D. J.
|q (Dorian J.)
|1 https://id.oclc.org/worldcat/entity/E39PCjGqpxGDHpGHrgPHjHBwYP
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| 245 |
1 |
0 |
|a Medical Genetics at a Glance.
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| 260 |
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|b Wiley,
|c 2013.
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| 300 |
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|a 1 online resource.
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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| 490 |
1 |
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|a At a glance series
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| 588 |
0 |
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|a Print version record.
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| 504 |
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|a Includes bibliographical references (pages 220-221) and index.
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| 505 |
0 |
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|a 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
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| 505 |
8 |
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|a 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
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| 505 |
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|a 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
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| 505 |
8 |
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|a 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
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| 505 |
8 |
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|a 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
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| 590 |
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|a ProQuest Ebook Central
|b Ebook Central Academic Complete
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| 650 |
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0 |
|a Medical genetics.
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| 650 |
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0 |
|a Developmental biology.
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| 650 |
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2 |
|a Genetics, Medical
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| 650 |
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2 |
|a Developmental Biology
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| 650 |
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6 |
|a Génétique médicale.
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| 650 |
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6 |
|a Biologie du développement.
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| 650 |
|
7 |
|a Developmental biology
|2 fast
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| 650 |
|
7 |
|a Medical genetics
|2 fast
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| 655 |
|
0 |
|a Electronic books.
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| 758 |
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|i has work:
|a Medical genetics at a glance (Text)
|1 https://id.oclc.org/worldcat/entity/E39PCH6KwKfC7WjKJQYRpQK4xC
|4 https://id.oclc.org/worldcat/ontology/hasWork
|
| 776 |
0 |
8 |
|i Print version:
|z 9781299738249
|
| 830 |
|
0 |
|a At a glance series (Oxford, England)
|
| 856 |
4 |
0 |
|u https://ebookcentral.uam.elogim.com/lib/uam-ebooks/detail.action?docID=7103946
|z Texto completo
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| 938 |
|
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|a ProQuest Ebook Central
|b EBLB
|n EBL7103946
|
| 938 |
|
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|a ProQuest MyiLibrary Digital eBook Collection
|b IDEB
|n cis26004678
|
| 938 |
|
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|a Rittenhouse
|b RITT
|n 0470656549
|
| 938 |
|
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|a YBP Library Services
|b YANK
|n 10862085
|
| 994 |
|
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|a 92
|b IZTAP
|
