Hereditary kidney diseases:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Basel [u.a.]
Karger
1997
|
| Schriftenreihe: | Contributions to nephrology
122 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XII, 217 S. Ill., graph. Darst. |
| ISBN: | 3805565518 |
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Datensatz im Suchindex
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|---|---|
| adam_text | Contents
XI Introduction
Polycystic Kidney Disease
1 Pathogenesis of Autosomal Dominant Polycystic Kidney Disease:
Recent Developments
Grantham, J.J. (Kansas City, Kans.)
10 Autosomal Recessive Polycystic Kidney Disease
Zerres, K.; Becker, J.; Mucher, G.; Rudnik Schoneborn, S. (Bonn)
17 Prevalence of Hypertension According to Phenotype and Gender in
Autosomal Dominant Polycystic Kidney Disease
Boulahrouz, R.; Mazeau, P.; Charasse, C; Catroux, B.; Le Cacheux, P.; Ang, K.S.;
Simon, P. (Saint Brieuc)
22 Role of Renin Angiotensin Aldosterone System and of Sympathetic
Activity in Arterial Hypertension Associated with Autosomal
Dominant Polycystic Kidney Disease
Cerasola, G.; Li Vecchi, M.; Mule, G.; Cottone, S.; Mangano, M.T.; Andronico, G.;
Contomo, A.; Parrino, I.; Renda, F.; Pavone, G.; Scialabba, A. (Palermo)
28 Hypertension in Polycystic Kidney Disease Types 1 and 2 and Its Effect
on the Age of Onset of End Stage Renal Disease
Torra, R.; Badenas, C; Perez, L.; Estivill, X.; Darnell, A. (Barcelona)
31 Sodium Lithium Countertransport in Autosomal Polycystic Kidney
Disease
Li Vecchi, M.; Andronico, G.; Ferrara, L.; Renda, E; Parrino, I.A.; Pavone, G.;
Mule, G.; Ferrantelli, A.; Di Natale, E.; Cerasola, G. (Palermo)
V
35 Inflammatory Cytokine Profile in Autosomal Dominant Polycystic
Kidney Disease
Merta, M.; Tesaf, V.; Zima, T; Jirsa, M.; Rysava, R.; Zabka, J. (Prague)
38 Extracellular Matrix Abnormality May be Responsible for Cyst
Development
Bellinghieri, G.; Magaudda, L.; Santoro, D.; Esposito, M.; Pergolizzi, S.; Vaccaro, M.;
Savica, V. (Messina)
45 Mutations and Intragenic Polymorphisms in the Diagnosis of
Autosomal Dominant Polycystic Kidney Disease Type 1
Badenas, C; Torra, R.; Darnell, A.; Estivill, X. (Barcelona)
49 Expression of Protein Fragments from the Human PKD1 Gene and
Production of Rabbit Polyclonal Antibodies to the Recombinant
Proteins
Aguiari, G.L.; Bozza, A.; Piva, R.; Volinia, S.; Reali, E.; Maestri, I.; Magri, E.;
Cavazzini, L.; del Senno, L. (Ferrara)
53 Molecular Genetic Investigations in Autosomal Dominant Polycystic
Kidney Disease. Gene Mutation Detection, Linkage Analysis, and
Preliminary ACE Gene I/D Polymorphism Association Studies: An Update
Turco, A.E.; Bresin, E.; Rossetti, S.; Englisch, S.; Pignatti, P.F.; Gammaro, L.;
Maschio, G; Bendetti, M. (Verona); Li Vecchi, M.; Ferrantelli, A.;
Cerasola, G (Palermo); Stiasny, B.; Schulze, B. (Erlangen Niirnberg)
58 Oral Facial Digital Syndrome Type 1 Coexisting with Polycystic
Kidney Disease
Scolari, R; Valzorio, B.; Carli, O.; Vizzardi, V.; Grazioli, L.; Bondioni, M.P.;
Maiorca, F. (Brescia)
61 Nephronophthisis Medullary Cystic Kidney Disease Complex:
A Report on 24 Patients from 5 Families with Italian Ancestry
Scolari, F; Valzorio, B.; Vizzardi, V.; Carli, O.; Costantino, E.; Viola, F. (Brescia);
Prati, E. (Desenzano); Maiorca, R. (Brescia)
Tuberous Sclerosis Complex
64 Renal Manifestations of Tuberous Sclerosis Complex
Torres, V.E.; Zincke, H.; King, B.K.; Bjornsson, J. (Rochester, Minn.)
76 The TSC2IPKD1 Contiguous Gene Syndrome
Harris, PC. (Oxford)
83 A Case of Pringle Bourneville Tuberous Sclerosis with Renal
Angiomyolipomas: Clinical and Radiological Aspects
Cavatorta, F; Campisi, S.; Zollo, A.; Dolla, D. (Imperia)
88 Tuberous Sclerosis and Nephrocalcinosis
Schillinger, F; Montagnac, R. (Troyes)
91 A Tuberous Sclerosis Patient with a Large TSC2 and PKD1 Gene
Deletion Shows Extrarenal Signs of Autosomal Dominant Polycystic
Disease
Longa, L.; Brusco, A.; Carbonara, C; Polidoro, S. (Turin); Scolari, F;
Valzorio, B. (Brescia); Riegler, P. (Bolzano); Tardanico, R. (Brescia);
Migone, N. (Turin)
96 Tuberous Sclerosis Complex and Early Onset Autosomal Dominant
Polycystic Kidney Disease as a Contiguous Gene Syndrome:
Report of a Case
Mancino, C; Balducci, A. (Rome)
98 Pulmonary Lymphangioleiomyomatosis and Tuberous Sclerosis
Complex
Peccatori, I.; Pitingolo, F.; Battini, G.; Meroni, M.; Giordano, G.; Guarino, M.;
Sessa, A. (Vimercate)
Von Hippel Lindau Disease
102 The Kidney and Von Hippel Lindau Disease: Impact of Molecular
Genetic Analysis of the VHL Gene for Clinical Management
Neumann, H.P.H.; Bender, B.U.; Schultze Seemann, W; Krause, T; Altehoefer, C;
Scheremet, R.; Orszagh, M.; Schwarzkopf, G. (Freiburg); Januszewicz, A. (Warsaw);
Janetschek, G. (Innsbruck); Riegler, P. (Bolzano)
109 Von Hippel Lindau (VHL) Gene Analysis in Italian Families with VHL
Disease
Montera, M.; Bellone, E.; Ajmar, F.; Mandich, P. (Genoa)
112 Planning Kidney Surgery in Von Hippel Lindau Disease
Riegler, P.; Corradini, R.; Passler, W.; Lerchner, R.; Giacon, B.; Bonatti, G.;
Huber, W. (Bolzano)
Alport Syndrome
116 Alport Syndrome: Clinical and Genetic Correlation in a Type IV
Collagen Disease
Netzer, K. O.; Gross, O.; Jung, C; Kirsten, R.; Seibold, S.; Leinonen, A.;
Weber, M. (Cologne)
124 Clinical and Molecular Diagnosis in Inherited Kidney Diseases:
Three Examples
Grunfeld, J. P; Lesavre, P.; Richard, S. (Paris)
129 Expression of a(IV) Chains in Alport s Syndrome and Its Correlation
with Ultrastructural and Genetic Data
Mazzucco, G. (Turin); Barsotti, P.; Onetti Muda, A. (Rome); Fortunato, M. (Turin);
Faraggiana, T. (Rome); DeMarchi, M. (Turin); Monga, G. (Novara)
132 Molecular Diagnosis of Alport Syndrome: The Experience in Siena
Renieri, A.; Bruttini, M.; Piccini, M. (Siena); Bruno, M. (Turin); Cecconi, M. (Ancona);
Conti, M. (Cagliari); Coppo, R. (Turin); La Manna, A. (Naples); Trivelli, A. (Genoa);
De Marchi, M. (Turin); Ballabio, A. (Siena)
134 X Linked Alport Syndrome with Normal Distribution of Collagen IV a
Chains in Epidermal Basement Membrane
Naito, I. (Okayama); Nomura, S. (Kurashiki); Inoue, S.; Kagawa, M.; Matsubara, T;
Araki, T; Taki, M.; Ohmori, H.; Manabe, K. (Okayama); Kawai, S.; Osawa, G.
(Kurashiki); Sado, Y. (Okayama)
140 Kidney Transplantation in Alport s Syndrome
Scolari, E; Valzorio, B.; Fasciolo, R; Carli, O.; Vizzardi, V; Gaggia, P.; Tira, P.;
Maffeis, R.; Bonardelli, S.; Maiorca, R. (Brescia)
Primary Hyperoxaluria
143 Primary Hyperoxaluria
Watts, R.WE. (London)
160 Renal Pathology in Hyperoxaluria
Onetti Muda, A.; Barsotti, P.; Rinaldi, S.; Rizzoni, G.; Faraggiana, T. (Rome)
Cystinuria
167 Clinical Aspects of Cystinuria
Pierides, A.M.; Deltas, C.C. (Nicosia)
173 Cystinuria: Recent Advances in Pathophysiology and Genetics
Bruno, M.; Marangella, M. (Turin)
Anderson Fabry Disease
178 Kidney Involvement in Anderson Fabry Disease
Meroni, M.; Sessa, A.; Battini, G.; Tazzari, S.; Torri Tarelli, L. (Milan)
185 Anderson Fabry Disease. Three Families Detected in Two Years: Unusual
Occurrence or Good Interdisciplinary Collaboration?
Martinelli, F.; Bergesio, F; Piperno, R.; Zanazzi, M.; Rosati, A.; Borsini, W;
Nencini, P.; Battini, M.L.; Sodi, A.; Salvadori, M. (Florence)
Miscellanea
189 Genetic Approach to the Study of Cellula r Ion Transport Anomalies in
Idiopathic Calcium Nephrolithiasis
Gambaro, G; Marchini, F; Budakovic, A.; Checchetto, S.; Baggio, B. (Padua)
193 Constitutive Nitric Oxide Synthase Gene Expression in Bartter s and
Gitelman s Syndrome and Its Relationship to Their Vascular
Hyporesponsiveness
Calo, L.; Bordin, M.C. (Padua); Davis, P.A. (Davis, Calif.); Cantaro, S.; Milani, M.;
Gandolfi, L.; Favaro, S.; Antonello, A.; Fagiolo, U.; D Angelo, A. (Padua)
196 Familial Hemolytic Uremic Syndrome: Stimulation Linkage Analysis
Carreras, L.; Volpini, V; Poveda, R.; Fernandez Robres, A.; Alsina, J. (Barcelona)
200 Abnormal Blood Glucose and Insulin Response during Oral Glucose
Tolerance Test in Familial Renal Glycosuria
De Marchi, S.; Cecchin, E.; Zanello, F; Bartoli E. (Udine)
203 Renal Transplantation in Patients with Hereditary Kidney Disease:
Our Experience
Mazzarella, V; Splendiani, G.; Tozzo, C; Tisone, G.; Pisani, F.; Iaria, G.;
Casciani, C.U. (Rome)
207 An Information Center for Rare Diseases: A Tool for Epidemiologic and
Clinical Studies in Rare Diseases
Daina, E.; Vasile, B.; Fiacco, F; Minetti, L.; Schieppati, A. (Bergamo)
211 Author Index
213 Subject Index
|
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| id | DE-604.BV011657304 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T18:13:33Z |
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| isbn | 3805565518 |
| language | English |
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| spellingShingle | Hereditary kidney diseases Contributions to nephrology Kidney Diseases genetics Congresses Kidneys Diseases Genetic aspects Congresses Molekulargenetik (DE-588)4039987-4 gnd Vererbung (DE-588)4187668-4 gnd Erbkrankheit (DE-588)4015106-2 gnd Nierenkrankheit (DE-588)4075399-2 gnd |
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| title | Hereditary kidney diseases |
| title_auth | Hereditary kidney diseases |
| title_exact_search | Hereditary kidney diseases |
| title_full | Hereditary kidney diseases vol. eds.: A. Sessa ... |
| title_fullStr | Hereditary kidney diseases vol. eds.: A. Sessa ... |
| title_full_unstemmed | Hereditary kidney diseases vol. eds.: A. Sessa ... |
| title_short | Hereditary kidney diseases |
| title_sort | hereditary kidney diseases |
| topic | Kidney Diseases genetics Congresses Kidneys Diseases Genetic aspects Congresses Molekulargenetik (DE-588)4039987-4 gnd Vererbung (DE-588)4187668-4 gnd Erbkrankheit (DE-588)4015106-2 gnd Nierenkrankheit (DE-588)4075399-2 gnd |
| topic_facet | Kidney Diseases genetics Congresses Kidneys Diseases Genetic aspects Congresses Molekulargenetik Vererbung Erbkrankheit Nierenkrankheit Aufsatzsammlung Konferenzschrift 1996 Vimercate |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007858678&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV000000413 |
| work_keys_str_mv | AT sessaadalberto hereditarykidneydiseases |