|
|
|
|
| LEADER |
00000cam a2200000ua 4500 |
| 001 |
in00000143417 |
| 006 |
m o d |
| 007 |
cr |n||||||||| |
| 008 |
130816s2013 xx ob 001 0 eng d |
| 005 |
20240701203853.4 |
| 020 |
|
|
|a 1299738249
|q (ebk)
|
| 020 |
|
|
|a 9781299738249
|q (ebk)
|
| 020 |
|
|
|a 9780470656549
|q (softback ;
|q alk. paper)
|
| 020 |
|
|
|a 0470656549
|q (softback ;
|q alk. paper)
|
| 020 |
|
|
|a 9781118689004
|q (mobi)
|
| 020 |
|
|
|a 1118689003
|q (mobi)
|
| 020 |
|
|
|a 9781118689011
|q (pub)
|
| 020 |
|
|
|a 1118689011
|q (pub)
|
| 020 |
|
|
|a 9781118689028
|q (pdf)
|
| 020 |
|
|
|a 111868902X
|q (pdf)
|
| 029 |
1 |
|
|a DEBBG
|b BV041908948
|
| 035 |
|
|
|a (OCoLC)855906469
|
| 035 |
|
|
|a (OCoLC)ocn855906469
|
| 037 |
|
|
|a 505075
|b MIL
|
| 040 |
|
|
|a IDEBK
|b eng
|e pn
|c IDEBK
|d OCLCO
|d OCLCQ
|d COO
|d YDXCP
|d OCLCO
|d OCLCF
|d OCLCQ
|d DEBBG
|d OCLCQ
|d RTH
|d OCLCQ
|d OCLCO
|d EBLCP
|d OCLCQ
|d OCLCO
|d OCLCQ
|d OCLCL
|d OCLCQ
|d OCLCL
|d OCLCQ
|
| 050 |
|
4 |
|a RB155
|b .P6965 2013eb
|
| 082 |
0 |
4 |
|a 616.042
|2 23
|
| 100 |
1 |
|
|a Pritchard, D. J.
|q (Dorian J.)
|1 https://id.oclc.org/worldcat/entity/E39PCjGqpxGDHpGHrgPHjHBwYP
|
| 245 |
1 |
0 |
|a Medical Genetics at a Glance.
|
| 260 |
|
|
|b Wiley,
|c 2013.
|
| 300 |
|
|
|a 1 online resource.
|
| 336 |
|
|
|a text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a computer
|b c
|2 rdamedia
|
| 338 |
|
|
|a online resource
|b cr
|2 rdacarrier
|
| 490 |
1 |
|
|a At a glance series
|
| 504 |
|
|
|a Includes bibliographical references (pages 220-221) and index.
|
| 505 |
0 |
|
|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
|
| 505 |
8 |
|
|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
|
| 505 |
8 |
|
|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
|
| 505 |
8 |
|
|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
|
| 505 |
8 |
|
|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
|
| 588 |
0 |
|
|a Print version record.
|
| 590 |
|
|
|a ProQuest Ebook Central
|b Ebook Central College Complete
|
| 650 |
|
0 |
|a Medical genetics.
|
| 650 |
|
0 |
|a Developmental biology.
|
| 650 |
|
2 |
|a Genetics, Medical
|
| 650 |
|
2 |
|a Developmental Biology
|
| 655 |
|
0 |
|a Electronic books.
|
| 758 |
|
|
|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)
|
| 852 |
|
|
|b E-Collections
|h ProQuest
|
| 856 |
4 |
0 |
|u https://ebookcentral.proquest.com/lib/mcphs/detail.action?docID=7103946
|z Full text (MCPHS users only)
|t 0
|
| 938 |
|
|
|a ProQuest Ebook Central
|b EBLB
|n EBL7103946
|
| 938 |
|
|
|a ProQuest MyiLibrary Digital eBook Collection
|b IDEB
|n cis26004678
|
| 938 |
|
|
|a Rittenhouse
|b RITT
|n 0470656549
|
| 938 |
|
|
|a YBP Library Services
|b YANK
|n 10862085
|
| 947 |
|
|
|a FLO
|x pq-ebc-base
|
| 999 |
f |
f |
|s 4e1f7c2a-5637-4b88-9ea3-e8d871abd423
|i 458ddaa5-c603-4b50-b8eb-ab458c3083a3
|t 0
|
| 952 |
f |
f |
|a Massachusetts College of Pharmacy and Health Sciences
|b Online
|c Online
|d E-Collections
|t 0
|e ProQuest
|h Other scheme
|
| 856 |
4 |
0 |
|t 0
|u https://ebookcentral.proquest.com/lib/mcphs/detail.action?docID=7103946
|y Full text (MCPHS users only)
|
