Oxford Desk Reference - Clinical Genetics

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9780192628961: Oxford Desk Reference - Clinical Genetics

The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology.

The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

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Book Description:

...a comprehensive and highly focussed guide to clinical genetics that should certainly rank as an indeispensable handbook for consultants in clinical genetics, genetic counsellors and paediatricians. However, it should also be extremely useful for PhD students in nearly all disciplines within medical and/or human genetics. Its major strength is the well-conceived and clearly laid out format which enables the reader to obtain a rapid yet quite substantial overview of a plethora of difficult topics... ( Human Genetics)

The authors of [this book] deserve to be congratulated for achieving the impossible...Overall this book is a winner and is a must for every clinical genetics department. This is arguably the most important book ever published for trainees in genetics...[but] can be considered as an extremely useful reference source to any genetics physician...this book is a 'peripheral brain' and 'lifesaver' for geneticists in many situations! ( Ulster Medical Journal Vol 75, no 3)

If there was a Booker Prize for new texts on clinical genetics, then the winner this year would be a foregone conclusion. No one else could possibly come up with and entry as good as this. ... the definitive hands-on guide to clinical genetics. ... The breadth and depth of information provided is remarkable. ... As a practical guide to the specialty of clinical genetics this book has no match, and overall it represents an awesome achievement. How did the authors manage to acquire and collate all this knowledge? Where did they find all this information? ... If your department can only afford one book this year, make it this one. Better still, buy your own copy and keep it hidden because it is going to be much in demand. ( BMJ)

This is an amazing compilation of genetic knowledge. It provides a fantastic tool for clinical geneticists who require a fast review of specific genetic subjects while performing clinical consultations. ... Condensation of the amount of information included in this wonderful book could not be done any better. ... This is a most-have tool for all clinical geneticists who require quick and specific reviews in clinical practice. ... Dr Firth and Hurst have achieved a tremendous goal. They have been able to summarize a tremendous amount of information in clinical genetics and convert it to an excellent tool for the practice of the specialty. It could not be done any better. The magnificent work done suggests that as the field of clinical genetics expands, further editions will be needed. This is a must have book, and a second edition would be expected. ( Doody's Journal)

Book Description:

An essential all-in-one guide to clinical genetics

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1.

Firth, Helen V.; Hurst, Jane A.
Editore: Oxford University Press, United Kingdom (2005)
ISBN 10: 0192628968 ISBN 13: 9780192628961
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Descrizione libro Oxford University Press, United Kingdom, 2005. Hardback. Condizione libro: New. 242 x 170 mm. Language: English . Brand New Book. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated. Codice libro della libreria AOP9780192628961

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Firth, Helen V.; Hurst, Jane A.
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Descrizione libro Condizione libro: New. Codice libro della libreria 3363933-n

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Firth, Helen V.; Hurst, Jane A.
Editore: Oxford University Press, United Kingdom (2005)
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Descrizione libro Oxford University Press, United Kingdom, 2005. Hardback. Condizione libro: New. 242 x 170 mm. Language: English . Brand New Book. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated. Codice libro della libreria AOP9780192628961

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Firth, Helen V.; Hurst, Jane A.
Editore: OUP Oxford (2005)
ISBN 10: 0192628968 ISBN 13: 9780192628961
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Descrizione libro OUP Oxford, 2005. HRD. Condizione libro: New. New Book. Shipped from UK in 4 to 14 days. Established seller since 2000. Codice libro della libreria FU-9780192628961

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Descrizione libro Oxford University Press. Condizione libro: New. Brand New. Codice libro della libreria 0192628968

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Descrizione libro Oxford University Press, 2005. Condizione libro: New. Brand New, Unread Copy in Perfect Condition. A+ Customer Service! Summary: Part 1: IntroductionAdoptionApproach to the consultation with a child with dysmorphism, congential malformation, or developmental delayAutosomal dominant (AD) inheritanceAutosomal recessive (AR) inheritanceCommunication skillsConfidentialityConfirmation of diagnosisConsent for genetic testingThe genetic code and mutationsGenomic imprintingMitochondrial inheritanceMultifactorial inheritanceReproductive optionsTesting for genetic statusUseful resourcesX-linked dominant (XLD) inheritanceX-linked recessive (XLR) inheritancePart 2: Clinical ApproachAmbiguous genitalia (including sex reversal)Anal anomalies (atresia, stenosis and anterior placement)Anterior segment eye malformationsArthrogryposisAtaxic adultAtaxic childBrachydactylyBroad thumbsCardiomyopathy in children under 10 yrsCataractCerebellar anomaliesCerebral palsyChondrodysplasia punctataCleft lip and palateCoarse facial featuresColobomaCongenital heart diseaseCorneal cloudingDeafnessDevelopmental delay in the child with consanguineous parentsDevelopmental regressionDuane retraction syndromeDysmorphic childDystoniaEar anomaliesFacial asymmetryFailure to thriveFloppy infantFracturesGeneralised disorders of pigmentation (including albinism)Hemihyperplasia and limb asymmetryHoloprosencephalyHydrocephalusHypermobile jointsHypoglycaemia in infancyHypospadiasIncreased bone densityLarge fontanelleLaterality disorders including heterotaxy and isomerismLeukodystrophyLimb reduction defectLissencephaly and neuronal migration disordersLumps and bumpsMacrocephalyMental retardation with apparent X-linked inheritanceMental retardationMicrocephlyMicrognathia and Robin sequenceMicrophthalmia and anophthalmiaMinor congenital anomaliesNasal anomaliesNeonatal encephalopathy and intractable seizuresNystagmusObesity with and without developmental delayOcular hypertelorismOedema - generalised or puffy extremitiesOesophageal and intestinal atresia (including tracheo-oesophageal fistula)Optic nerve hypoplasiaOvergrowthPatchy hypomelanotic skin lesionsPatchy pigmented skin lesions (including cafe au lait spots)Plagiocephaly and abnormalities of skull shapePostaxial polydactylyPreaxial polydactylyProlonged neonatal jaundice and jaundice in infants below 6 monthsPtosis blepharophimosis and other eyelid anomaliesRadial ray and thumb hypoplasiaRetinal dysplasiaRetinal receptor dystrophiesScalp defectsSeizures with developmental delayShort statureSkeletal dysplasiaStructural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia and arachnoid cysts)Suspected non-accidental injurySyndactylyUnusual hair, teeth and nailsPart 3: Common consultationsAchondroplasiaAutosomal dominant polycystic kidney disease (ADPKD)Adrenoleukodystrophy (X-linked)Alpha 1- antitrypsin deficiencyAlport syndromeAndrogen insensitivity syndrome (AIS)Angelman syndromeAutism and autistic spectrum disordersBeckwith-Wiedemann syndromeCongenital adrenal hyperplasiaConsanguinityCraniosynostosisCystic fibrosisDementiaDiabetesDilated cardiomyopathy (DCM)DNA repair defectsDuchenne and Becker muscular dystrophy (DMD and BMD)Ehlers-Danlos syndrome (EDS)Epilepsy in infants and childrenEpilepsyFacioscapulohumeral muscular dystrophy (FSHD)Fragile X syndromeGlaucomaHaemochromatosisHaemoglobinopathiesHaemophilia and other inherited coagulation disordersHereditary Haemorrhagic Telangiectasia (HHT)Hereditary motor sensory neuropathy (HMSN)Hereditary Spastic Paraplegia (HSP)Hirschprung diseaseHuntington disease (HD)HyperlipidaemiaHypertrophic cardiomyopathy (HCM)ImmunodeficiencyIncestLeigh''s encephalopathyLimb girdle muscular dystrophiesLong QT and Brugada syndromesMarfan syndromeMitochondrial diseasesMyotonic dystrophyNeural tube defectsNeurofibromatosis type 1 (NF1)Noonan syndromeParkinson diseaseRetinitis pigmentosaRett syndromeSensitivity to anaesthetic agentsSpinal muscular atrophy (SMA)Stickler syndromeThrombophiliaTuberous sclerosis (TS)Part 4: Codice libro della libreria ABE_book_new_0192628968

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Descrizione libro Condizione libro: New. Bookseller Inventory # ST0192628968. Codice libro della libreria ST0192628968

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Descrizione libro OUP Oxford 2005-07-14, 2005. Condizione libro: New. Brand new book, sourced directly from publisher. Dispatch time is 24-48 hours from our warehouse. Book will be sent in robust, secure packaging to ensure it reaches you securely. Codice libro della libreria NU-LBR-00643837

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Descrizione libro Oxford University Press. Hardcover. Condizione libro: New. 0192628968 Brand New Book. Ships from the United States. 30 Day Satisfaction Guarantee!. Codice libro della libreria 4686792

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Firth, Helen V.; Hurst, Jane A.
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Descrizione libro Hardback. Condizione libro: New. Not Signed; The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is a. book. Codice libro della libreria ria9780192628961_rkm

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