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  • The Genetics of Renal Disease
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    145 713 Ft

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    Beszerezhetőség

    Megrendelésre a kiadó utánnyomja a könyvet. Rendelhető, de a szokásosnál kicsit lassabban érkezik meg.

    Why don't you give exact delivery time?

    A beszerzés időigényét az eddigi tapasztalatokra alapozva adjuk meg. Azért becsült, mert a terméket külföldről hozzuk be, így a kiadó kiszolgálásának pillanatnyi gyorsaságától is függ. A megadottnál gyorsabb és lassabb szállítás is elképzelhető, de mindent megteszünk, hogy Ön a lehető leghamarabb jusson hozzá a termékhez.

    A termék adatai:

    • Kiadó OUP Oxford
    • Megjelenés dátuma 2004. január 22.
    • Kötetek száma Cover-to-boards

    • ISBN 9780192631466
    • Kötéstípus Keménykötés
    • Terjedelem582 oldal
    • Méret 248x173x33 mm
    • Súly 1230 g
    • Nyelv angol
    • Illusztrációk 8pp colour plates; numerous black and white photographs and line drawings
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    Kategóriák

    Rövid leírás:

    This book covers renal disorders which have a genetic basis, starting from the perspective of clinical and medical genetics, rather than taking as its primary focus the clinical management of these disorders by nephrologists. It is a practical manual which clinicians seeing patients with inherited renal diseases will find themselves referring to often.

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    Hosszú leírás:

    Renal genetic disorders may become apparent at any time in life and recognition of specific renal disorders is important in allowing accurate genetic counselling. Active counselling requires knowledge about the natural history of the disorder, an understanding of the genetic component and mode of inheritance, risk of the disorder in other family members, information about patient attitudes towards family planning and the possibility of pre-natal diagnosis.

    The Genetics of Renal Disease provides a comprehensive account of both the hereditary nephropathies and more generalised disorders, which may affect the renal tract. It includes comprehensive guidelines from an international group of authors on renal function and development, chromosomal disorders, dysmorphic syndromes, inherited predisposition to kidney cancer and gene therapy for renal cancer. Specific chapters deal with individual renal tract disorders such as an extensive discussion of Alport's disease, cystic renal diseases, the Bardet-Biedl and Alstrom syndromes. Each section gives a brief description of the clinical and pathological features of a particular disorder, followed by a review of the genetics of the disorder including incidence, inheritance of familial occurrence, genetic linkage and gene assignment, and prenatal diagnosis and carrier detection. Original studies are extensively quoted and are referenced at the end of each section. There are a great many dysmorphic syndromes that involve the urinary tract. These are incorporated within the book.

    This book is very nice to read. It offers a clear and adequately illustrated overview of the many achievements in nephrogenetic research and their major impact in advancing our understanding of the aetiology and pathogenesis of a wide variety of renal disorders . . . this book is highly recommended for clinicians, who take care of patients with these diseases, such as paediatricians, (paediatric) nephrologists, urologists, internal physicians, and clinical geneticists, and for residents in training for these specialties.

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    Tartalomjegyzék:

    Introduction to clinical genetics
    Renal function and management of renal disease
    Renal development
    Kidney and lower urinary tract malformations
    Urinary tract defects and chromosomal disorders
    Dysmorphic syndromes with renal involvement
    Primary hereditary nephropathies
    Alport Syndrome
    Autosomal dominant polycystic kidney disease
    Autosomal recessive polycystic kidney disease
    Cystic renal diseases
    Primary inherited metabolic diseases of the kidney
    Genetics of stone forming diseases
    Disorders of tubular transport
    Tuberous Sclerosis complex
    Neurofibromatosis
    The Bardet-Biedl and Alström syndromes
    Genetic syndromes with a renal component
    The genetics of glomerulonephritis and systemic disorders affecting the kidney
    Wilms tumour and the Wilms tumour predisposition syndromes
    Von Hippel-Lindau disease
    Inherited predispositions to kidney cancer
    Gene therapy in renal disease
    Gene therapy for renal cancer

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