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The genetics of renal disease / edited by Frances Flinter, Eamonn Maher, Anand Saggar-Malik. — Oxford : Oxford University Press, 2003.—(64.34/G328) |
Contents
Contents
1 Introduction to clinical genetics 1
Shehla Mohammed
2 Renal function and management of renal disease 27
A. David Makanjuola and John E. Scoble
3 Renal development 57
Paul J. D. Winyard4
4. Kidney and lower urinary tract malformations 89
Adrian S. Woolf
5 Urinary tract defects and chromosomal disorders 117
David J. Amor， Lachlan de Crespigny， and R. J. McKinlay Gardner
6 Dysmorphic syndromes with renal involvement 147
Ian D. Young
7 Primary hereditary nephropathies 167
Karl Tryggvason
8 Alport syndrome 183
Frances Flinter
9 Autosomal dominant polycystic kidney disease 203
Anand K. Saggar-Malik and Stefan Somlo
10 Autosomal recessive polycystic kidney disease 239
Lisa M. Guay-Woodford11
11. Cystic renal diseases 253
Anand K. Saggar-Malik
12 Primary inherited metabolic diseases of the kidney 261
Margaret Town and William van't Hoff
13 Genetics of stone forming diseases 281
Pasquale Strazzullo and Pietro Vuotto
14 Disorders of tubular transport 307
David S. Geller， Mark A. J. Devonald， and Fiona E. Karet
15 Tuberous sclerosis complex 337
Astrid P. Weber and Robert F. Mueller
16 Neurofibromatosis 349
Susan M. Huson and Natalie Canham
17 The Bardet-Biedl and Alstrrm syndromes 361
Philip L. Beales， Patrick S. Parfrey， and Nicholas Katsanis
18 Genetic syndromes with a renal component 399
Richard Sandford and Robin G. Woolfson
19 The genetics of glomerulonephritis and systemic 417
disorders affecting the kidney
Stephen H. Powis
20 Wilms tumour and the Wilms tumour predisposition syndromes 455
Richard Grundy
21 Von Hippel-Lindau disease 487
Eamonn R. Maher
22 Inherited predispositions to kidney cancer 497
Berton Zbar， Gladys Glenn， Maria Turner， Gregor Weirich，<br> Peter Choyke， Stephen Hew#t， Michael Nickerson，<br> Naboru Nakaigawa， W. Marston Linehan， and Laura Schmidt
23 Gene therapy in renal disease 511
Anand K. Saggar-Malik
24 Gene therapy for renal cancer 515
Michael J. Gough and Richard G. Vile
Index 557
