دانلود کتاب رفرنس ژنتیک و ژنومیک بالینی آکسفورد Oxford Desk Reference: Clinical Genetics and Genomics 2nd Edition (کد: RRP19625)

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دانلود کتاب رفرنس ژنتیک و ژنومیک بالینی آکسفورد Oxford Desk Reference: Clinical Genetics and Genomics 2nd Edition

  1. مشخصات کلی کتاب ارائه شده
    file type نوع فایل pdfPDF
    book sheet تعداد صفحات 935 صفحه
    barcode شابک

    ISBN: 0199557500

    ISBN-13: 978-0199557509

    authors نویسندگان Helen V. Firth, Jane A. Hurst
    sizefile حجم فایل 90 MB
    زبان کتاب انگلیسی
    سال ویرایش/انتشار ویرایش دوم - 2018
    price قیمت کتاب در سایت اصلی و خارجی 87دلار
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توضیحات کتاب:

A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine.

Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it’s accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts.

The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies.
The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex.
Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

Contents: فهرست فصول

1 Introduction
Approach to the consultation with a child with dysmorphism, congenital malformation, or developmental delay
Autosomal dominant (AD) inheritance
Autosomal recessive (AR) inheritance
Communication skills
Complex inheritance
Confirmation of diagnosis
Consent for genetic testing
Genetic basis of cancer
Genetic code and mutations
Genomes and genomic variation
Genomic imprinting
Genomic sequencing and interpretation of data from WES or WGS analyses
Mitochondrial inheritance
Reproductive options
Testing for genetic status
Timing and origin of new dominant mutations
Useful resources
X-linked dominant (XLD), semi-dominant, pseudoautosomal, and male-sparing inheritance
X-linked recessive (XLR) inheritance
2 Clinical approach
Ambiguous genitalia (including sex reversal)
Anal anomalies (atresia, stenosis)
Anterior segment eye malformations
Ataxic adult
Ataxic child
Broad thumbs
Cardiomyopathy in children under 10 years
Cerebellar anomalies
Cerebral palsy
Chondrodysplasia punctata
Cleft lip and palate
Coarse facial features
Congenital heart disease
Congenital hypothyroidism
Corneal clouding
Deafness in early childhood
Developmental delay in the child with consanguineous parents
Developmental regression
Duane retraction syndrome
Dysmorphic child
Ear anomalies
Facial asymmetry
Failure to thrive
Floppy infant
Generalized disorders of skin pigmentation (including albinism)
Hemihypertrophy and limb asymmetry
Holoprosencephaly (HPE)
Hypermobile joints
Hypoglycaemia in the neonate and infant
Intellectual disability
Intellectual disability with apparent X-linked inheritance
Increased bone density
Intracranial calcification
Large fontanelle
Laterality disorders including heterotaxy and isomerism
Limb reduction defects
Lissencephaly, polymicrogyria, and neuronal migration disorders
Lumps and bumps
Micrognathia and Robin sequence
Microphthalmia and anophthalmia
Minor congenital anomalies
Nasal anomalies
Neonatal encephalopathy and intractable seizures
Obesity with and without developmental delay
Ocular hypertelorism
Oedema—generalized or puffy extremities
Oesophageal and intestinal atresia (including tracheo-oesophageal fistula)
Optic nerve hypoplasia
Patchy hypo- or depigmented skin lesions
Patchy pigmented skin lesions (including café-au-lait spots)
Plagiocephaly and abnormalities of skull shape
Prolonged neonatal jaundice and jaundice in infants below 6 months
Ptosis, blepharophimosis, and other eyelid anomalies
Radial ray defects and thumb hypoplasia
Retinal dysplasia
Retinal receptor dystrophies
Scalp defects
Seizures with developmental delay/intellectual disability
Short stature
Skeletal dysplasias
Structural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia, and arachnoid cysts)
Sudden cardiac death
Suspected non-accidental injury
Syndactyly (other than 2/3 toe syndactyly)
Unusual hair, teeth, nails, and skin
3 Common consultations
Alpha-1 antitrypsin deficiency
Alport syndrome
Androgen insensitivity syndrome (AIS)
Angelman syndrome
Autism and autism spectrum disorders
Autosomal dominant polycystic kidney disease (ADPKD)
Beckwith–Wiedemann syndrome (BWS)
Charcot–Marie–Tooth disease (CMT)
Congenital adrenal hyperplasia (CAH)
Cystic fiBrosis (CF)
Dementia—early onset and familial forms
Diabetes mellitus
Dilated cardiomyopathy (DCM)
DNA repair disorders
Duchenne and Becker muscular dystrophy (DMD and BMD)
Ehlers–Danlos syndrome (EDS)
Epilepsy in infants and children
Epilepsy in adults
Facioscapulohumeral muscular dystrophy (FSHD)
Fragile X syndrome (FRAX)
Haemophilia and other inherited coagulation disorders
Hereditary haemorrhagic telangiectasia (HHT)
Hereditary spastic paraplegias (HSP)
Hirschsprung’s disease
Huntington disease (HD)
Hypertrophic cardiomyopathy (HCM)
Immunodeficiency and recurrent infection
Leigh encephalopathy
Limb–girdle muscular dystrophies
Long QT syndrome and other inherited arrhythmia syndromes
Marfan’s syndrome
Mitochondrial DNA diseases
Myotonic dystrophy (DM1)
Neural tube defects
Neurofibromatosis type 1 (NF1)
Noonan syndrome and the Ras/MAPK pathway syndromes: neuro-cardio-facial-cutaneous syndromes
Parkinson’s disease
Retinitis pigmentosa (RP)
Rett syndrome
Sensitivity to anaesthetic agents
Spinal muscular atrophy (SMA)
Stickler syndrome
Tuberous sclerosis (TSC)
X-linked adrenoleukodystrophy (X-ALD)
4 Cancer
Breast cancer
Cancer surveillance methods
Colorectal cancer (CRC)
Confirmation of diagnosis of cancer
Cowden syndrome (PTEN hamartoma tumour syndrome (PHTS))
Familial adenomatous polyposis (FAP) and adenomatous polyposis due to MUTYH, NTHL1, POLE, and POLD1
Gastric cancer
Gorlin syndrome
Juvenile polyposis syndrome (JPS)
Lifestyle factors in cancer: smoking, alcohol, obesity, diet, and exercise
Li–Fraumeni syndrome (LFS)
Lynch syndrome (LS)
Multiple endocrine neoplasia (MEN)
Neurofibromatosis type 2 (NF2)
Ovarian cancer
Peutz–Jeghers syndrome (PJS)
Phaeochromocytoma and paraganglioma
Prostate cancer
Renal cancer
von Hippel–Lindau (VHL) disease
Wilms tumour
5 Chromosomes
22q11 deletion syndrome
Autosomal reciprocal translocations—background
Autosomal reciprocal translocations—familial
Autosomal reciprocal translocations—postnatal
Autosomal reciprocal translocations—prenatal
Cell division—mitosis, meiosis, and non-disjunction
Chromosomal mosaicism—postnatal
Chromosomal mosaicism—prenatal
Deletions and duplications (including microdeletions and microduplications)
Down’s syndrome (trisomy 21)
Edwards’ syndrome (trisomy 18)
Mosaic trisomy 8
Mosaic trisomy 16
Patau syndrome (trisomy 13)
Prenatal diagnosis of sex chromosome aneuploidy
Ring chromosomes
Robertsonian translocations
Sex chromosome mosaicism
Supernumerary marker chromosomes (SMCs)—postnatal
Supernumerary marker chromosomes (SMCs)—prenatal
Triploidy (69,XXX, 69XXY, or 69,XYY)
Turner syndrome, 45,X, and variants
X-autosome translocations
6 Pregnancy and fertility
Anterior abdominal wall defects
Assisted reproductive technology: in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and pre-implantation genetic diagnosis (PGD)
Bowed limbs
Congenital cystic lung lesions, Currarino syndrome, and sacrococcygeal teratoma
Congenital diaphragmatic hernia
Cytomegalovirus (CMV)
Drugs in pregnancy
Female infertility and amenorrhoea: genetic aspects
Fetal akinesia
Fetal alcohol syndrome (FAS)
Fetal anticonvulsant syndrome (FACS)
Fetomaternal alloimmunization (rhesus D and thrombocytopenia)
Hyperechogenic bowel
Hypoplastic left heart
Imaging in prenatal diagnosis
Invasive techniques and genetic tests in prenatal diagnosis
Low maternal serum oestriol
Male infertility: genetic aspects
Maternal age
Maternal diabetes mellitus and diabetic embryopathy
Maternal phenylketonuria (PKU)
Miscarriage and recurrent miscarriage
Neonatal (newborn) screening (NS)
Non-invasive prenatal diagnosis/testing (NIPD/T)
Oedema—increased nuchal translucency, cystic hygroma, and hydrops
Oligohydramnios (including Potter/oligohydramnios sequence)
Paternal age
Posterior fossa malformations
Premature ovarian failure (POF)
Radiation exposure, chemotherapy, and landfill sites
Short limbs
Talipes (club-foot)
Twins and twinning
Urinary tract and renal anomalies (congenital anomalies of the kidney and urinary tract—CAKUT)
Antenatal and neonatal screening timelines
Bayes’ theorem
Carrier frequency and carrier testing for autosomal recessive disorders
Centile charts for boys’ height and weight
Centile charts for girls’ height and weight
Centile charts for occipital–frontal circumference (OFC)
CK (creatine kinase) levels in carriers of Duchenne muscular dystrophy (DMD)
Conversion charts—imperial to metric
Denver Developmental Screening Test
Distribution of muscle weakness in different types of muscular dystrophy
Dysmorphology examination checklist
Embryonic fetal development (overview)
Family tree sheet and symbols
Haploid autosomal lengths of human chromosomes
Investigation of lethal metabolic disorder or skeletal dysplasia
ISCN nomenclature
Normal range of aortic root dimensions
Paternity testing
Patterns of cancer
Radiological investigations including magnetic resonance imaging (MRI)
Skeletal dysplasia charts
Staging of puberty
Surveillance for individuals at increased genetic risk of colorectal cancer


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