共 9 条
[1]
Hereditary familial congenital haemorrhagic nephritis.
[J].
Alport, AC
.
BMJ-BRITISH MEDICAL JOURNAL,
1927, 1927
:504-506

Alport, AC
论文数: 0 引用数: 0
h-index: 0
机构:
St Marys Hosp, Med Unit, Paddington, UK St Marys Hosp, Med Unit, Paddington, UK
[2]
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases
[J].
Fallerini, C.
;
Dosa, L.
;
Tita, R.
;
Del Prete, D.
;
Feriozzi, S.
;
Gai, G.
;
Clementi, M.
;
La Manna, A.
;
Miglietti, N.
;
Mancini, R.
;
Mandrile, G.
;
Ghiggeri, G. M.
;
Piaggio, G.
;
Brancati, F.
;
Diano, L.
;
Frate, E.
;
Pinciaroli, A. R.
;
Giani, M.
;
Castorina, P.
;
Bresin, E.
;
Giachino, D.
;
De Marchi, M.
;
Mari, F.
;
Bruttini, M.
;
Renieri, A.
;
Ariani, F.
.
CLINICAL GENETICS,
2014, 86 (03)
:252-257

论文数: 引用数:
h-index:
机构:

Dosa, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, I-53100 Siena, Italy
Azienda Osped Univ Senese, Siena, Italy Univ Siena, I-53100 Siena, Italy

Tita, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, I-53100 Siena, Italy Univ Siena, I-53100 Siena, Italy

Del Prete, D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Nephrol Clin, Dept Med, Padua, Italy Univ Siena, I-53100 Siena, Italy

Feriozzi, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Belcolle, Nephrol & Dialysis Unit, Viterbo, Italy Univ Siena, I-53100 Siena, Italy

Gai, G.
论文数: 0 引用数: 0
h-index: 0
机构:
AO City Hlth & Sci, SC Med Genet, Turin, Italy Univ Siena, I-53100 Siena, Italy

Clementi, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Woman & Child Hlth, Clin Genet Unit, Padua, Italy Univ Siena, I-53100 Siena, Italy

La Manna, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples 2, Dept Pediat, Naples, Italy Univ Siena, I-53100 Siena, Italy

Miglietti, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Pediat Clin, Nephrol DH, Brescia, Italy Univ Siena, I-53100 Siena, Italy

Mancini, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Azienda Osped Univ Senese, Siena, Italy Univ Siena, I-53100 Siena, Italy

Mandrile, G.
论文数: 0 引用数: 0
h-index: 0
机构:
San Luigi Univ Hosp, Orbassano, Italy Univ Siena, I-53100 Siena, Italy

Ghiggeri, G. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst G Gaslini, Nephrol Dialysis & Transplantat Unit, Genoa, Italy Univ Siena, I-53100 Siena, Italy

Piaggio, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst G Gaslini, Nephrol Dialysis & Transplantat Unit, Genoa, Italy Univ Siena, I-53100 Siena, Italy

Brancati, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Tor Vergata, Rome, Italy Univ Siena, I-53100 Siena, Italy

Diano, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Tor Vergata, Rome, Italy Univ Siena, I-53100 Siena, Italy

Frate, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Azienda Unita Locale Sociosanit 9, Treviso, Italy Univ Siena, I-53100 Siena, Italy

Pinciaroli, A. R.
论文数: 0 引用数: 0
h-index: 0
机构:
AO Pugliese Ciaccio, Dept Gen Med & Med Specialties Giuseppe Spada, Nephrol & Dialysis SOC, Catanzaro, Italy Univ Siena, I-53100 Siena, Italy

Giani, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Policilin, Fdn IRCCS Ca Granda, UOC Nephrol Dialysis & Renal Transplantat, UOC Pediat Nephrol & Hemodialysis,Audiol Unit, Milan, Italy Univ Siena, I-53100 Siena, Italy

Castorina, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Policilin, Fdn IRCCS Ca Granda, UOC Nephrol Dialysis & Renal Transplantat, UOC Pediat Nephrol & Hemodialysis,Audiol Unit, Milan, Italy Univ Siena, I-53100 Siena, Italy

Bresin, E.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Clin Res Ctr Rare Dis Aldo e Cele Dacco, Ranica, BG, Italy Univ Siena, I-53100 Siena, Italy

Giachino, D.
论文数: 0 引用数: 0
h-index: 0
机构:
San Luigi Univ Hosp, Orbassano, Italy
Univ Turin, Dept Clin & Biol Sci, Turin, Italy Univ Siena, I-53100 Siena, Italy

De Marchi, M.
论文数: 0 引用数: 0
h-index: 0
机构:
San Luigi Univ Hosp, Orbassano, Italy
Univ Turin, Dept Clin & Biol Sci, Turin, Italy Univ Siena, I-53100 Siena, Italy

Mari, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, I-53100 Siena, Italy
Azienda Osped Univ Senese, Siena, Italy Univ Siena, I-53100 Siena, Italy

Bruttini, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, I-53100 Siena, Italy
Azienda Osped Univ Senese, Siena, Italy Univ Siena, I-53100 Siena, Italy

论文数: 引用数:
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Ariani, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, I-53100 Siena, Italy Univ Siena, I-53100 Siena, Italy
[3]
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome
[J].
Hertz, JM
;
Juncker, I
;
Persson, U
;
Matthijs, G
;
Schmidtke, J
;
Petersen, MB
;
Kjeldsen, M
;
Gregersen, N
.
HUMAN MUTATION,
2001, 18 (02)
:141-148

Hertz, JM
论文数: 0 引用数: 0
h-index: 0
机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark

Juncker, I
论文数: 0 引用数: 0
h-index: 0
机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark

Persson, U
论文数: 0 引用数: 0
h-index: 0
机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark

Matthijs, G
论文数: 0 引用数: 0
h-index: 0
机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark

Schmidtke, J
论文数: 0 引用数: 0
h-index: 0
机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark

Petersen, MB
论文数: 0 引用数: 0
h-index: 0
机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark

Kjeldsen, M
论文数: 0 引用数: 0
h-index: 0
机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark

Gregersen, N
论文数: 0 引用数: 0
h-index: 0
机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark
[4]
International Registry in Organ Donation and Transplantation website, WORLDW KIDN TRANSPL
[5]
Jais JP, 2000, J AM SOC NEPHROL, V11, P649, DOI 10.1681/ASN.V114649
[6]
X-linked Alport syndrome:: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families:: A "European community Alport syndrome concerted action" study
[J].
Jais, JP
;
Knebelmann, B
;
Giatras, I
;
De Marchi, M
;
Rizzoni, G
;
Renieri, A
;
Weber, M
;
Gross, O
;
Netzer, KO
;
Flinter, F
;
Pirson, Y
;
Dahan, K
;
Wieslander, J
;
Persson, U
;
Tryggvason, K
;
Martin, P
;
Hertz, JM
;
Schröder, C
;
Sanak, M
;
Carvalho, MF
;
Saus, J
;
Antignac, C
;
Smeets, H
;
Gubler, MC
.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY,
2003, 14 (10)
:2603-2610

Jais, JP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Knebelmann, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Giatras, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

De Marchi, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Rizzoni, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Renieri, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Weber, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Gross, O
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Netzer, KO
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Flinter, F
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Pirson, Y
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Dahan, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Wieslander, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Persson, U
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Tryggvason, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Martin, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Hertz, JM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Schröder, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Sanak, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Carvalho, MF
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Saus, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Antignac, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Smeets, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France

Gubler, MC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U574, F-75743 Paris 15, France
[7]
Renal transplantation in patients with Alport syndrome
[J].
Kashtan, Clifford E.
.
PEDIATRIC TRANSPLANTATION,
2006, 10 (06)
:651-657

Kashtan, Clifford E.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Minnesota, Sch Med, Dept Pediat, Minneapolis, MN 55455 USA
[8]
Outcomes of kidney transplantation in Alport syndrome compared with other forms of renal disease
[J].
Kelly, Yvelynne P.
;
Patil, Anish
;
Wallis, Luke
;
Murray, Susan
;
Kant, Saumitra
;
Kaballo, Mohammed A.
;
Casserly, Liam
;
Doyle, Brendan
;
Dorman, Anthony
;
O'Kelly, Patrick
;
Conlon, Peter J.
.
RENAL FAILURE,
2017, 39 (01)
:290-293

Kelly, Yvelynne P.
论文数: 0 引用数: 0
h-index: 0
机构:
Beaumont Hosp, Dept Nephrol, Dublin, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland

Patil, Anish
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Coll Surgeons Ireland, Dublin, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland

Wallis, Luke
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Coll Surgeons Ireland, Dublin, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland

Murray, Susan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Galway, Dept Nephrol, Galway, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland

Kant, Saumitra
论文数: 0 引用数: 0
h-index: 0
机构:
Cork Univ Hosp, Dept Nephrol, Cork, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland

Kaballo, Mohammed A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Limerick, Dept Nephrol, Limerick, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland

Casserly, Liam
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Limerick, Dept Nephrol, Limerick, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland

Doyle, Brendan
论文数: 0 引用数: 0
h-index: 0
机构:
Beaumont Hosp, Dept Pathol, Dublin, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland

Dorman, Anthony
论文数: 0 引用数: 0
h-index: 0
机构:
Beaumont Hosp, Dept Pathol, Dublin, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland

O'Kelly, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Beaumont Hosp, Dept Nephrol, Dublin, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland

Conlon, Peter J.
论文数: 0 引用数: 0
h-index: 0
机构:
Beaumont Hosp, Dept Nephrol, Dublin, Ireland
Royal Coll Surgeons Ireland, Dublin, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland
[9]
Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing
[J].
Moriniere, Vincent
;
Dahan, Karin
;
Hilbert, Pascale
;
Lison, Marieline
;
Lebbah, Said
;
Topa, Alexandra
;
Bole-Feysot, Christine
;
Pruvost, Solenn
;
Nitschke, Patrick
;
Plaisier, Emmanuelle
;
Knebelmann, Bertrand
;
Macher, Marie-Alice
;
Noel, Laure-Helene
;
Gubler, Marie-Claire
;
Antignac, Corinne
;
Heidet, Laurence
.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY,
2014, 25 (12)
:2740-2751

Moriniere, Vincent
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France
Reference Ctr Renal Hereditary Dis Children & Adu, AP HP, Paris, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Dahan, Karin
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pathol & Genet, Dept Genet, Gosselies, Belgium Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Hilbert, Pascale
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pathol & Genet, Dept Genet, Gosselies, Belgium Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Lison, Marieline
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pathol & Genet, Dept Genet, Gosselies, Belgium Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Lebbah, Said
论文数: 0 引用数: 0
h-index: 0
机构:
Reference Ctr Renal Hereditary Dis Children & Adu, AP HP, Paris, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Topa, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Sahlgrens Univ Hosp, Dept Clin Genet, Gothenburg, Sweden Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Bole-Feysot, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Imagine Inst, Paris, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Pruvost, Solenn
论文数: 0 引用数: 0
h-index: 0
机构:
Imagine Inst, Paris, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Nitschke, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Sorbonne Paris Cite Univ, Paris, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Plaisier, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Tenon Hosp, AP HP, Serv Nephrol, Paris, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Knebelmann, Bertrand
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Serv Nephrol, F-75743 Paris 15, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Macher, Marie-Alice
论文数: 0 引用数: 0
h-index: 0
机构:
Robert Debre Hosp, AP HP, Pediat Nephrol Serv, Paris, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Noel, Laure-Helene
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Pathol, F-75743 Paris 15, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Gubler, Marie-Claire
论文数: 0 引用数: 0
h-index: 0
机构:
Imagine Inst, Lab Inherited Kidney Dis, INSERM, UMR 1163, Paris, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Antignac, Corinne
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France
Reference Ctr Renal Hereditary Dis Children & Adu, AP HP, Paris, France
Paris Descartes Sorbonne Paris Cite Univ, Paris, France
Imagine Inst, Lab Inherited Kidney Dis, INSERM, UMR 1163, Paris, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France

Heidet, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Pediat Nephrol Serv, F-75743 Paris 15, France
Reference Ctr Renal Hereditary Dis Children & Adu, AP HP, Paris, France Hop Necker Enfants Malad, AP HP, Dept Genet, F-75743 Paris 15, France