Works matching Alport syndrome

Results: 1068

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Published in:

Nephrology Dialysis Transplantation, 2017, v. 32, n. 6, p. 916, doi. 10.1093/ndt/gfw095

By:

Gross, Oliver;
Kashtan, Clifford E.;
Rheault, Michelle N.;
Flinter, Frances;
Savige, Judith;
Miner, Jeffrey H.;
Torra, Roser;
Ars, Elisabet;
Deltas, Constantinos;
Savva, Isavella;
Perin, Laura;
Renieri, Alessandra;
Ariani, Francesca;
Mari, Francesca;
Baigent, Colin;
Judge, Parminder;
Knebelman, Bertrand;
Heidet, Laurence;
Lagas, Sharon;
Blatt, Dave

Publication type:

Article

Pregnancy complicated with Alport syndrome: A good obstetric outcome and failure to diagnose an infant born to a mother with Alport syndrome by umbilical cord immunofluorescence staining.

Published in:

Journal of Obstetrics & Gynaecology Research, 2009, v. 35, n. 6, p. 1109, doi. 10.1111/j.1447-0756.2009.01069.x

By:

Matsubara, Shigeki;
Ueda, Yoshihiko;
Takahashi, Hisako;
Nagai, Takashi;
Kuwata, Tomoyuki;
Muto, Shigeaki;
Yamaguchi, Takehiko;
Takizawa, Toshihiro;
Suzuki, Mitsuaki

Publication type:

Article

Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 4, p. 217, doi. 10.1076/1381-6810(200012)21:4;1-H;FT217

By:

Colville, D.;
Wang, Y.Y.;
Jamieson, R.;
Collins, F.;
Hood, Jeni;
Savige, J.

Publication type:

Article

Progressive Posterior Lenticonus in a Patient with Alport Syndrome.

Published in:

2010

By:

Al-Mahmood, Ammar M.;
Al-Swailem, Samar A.;
Al-Khalaf, Abdulrahman;
Al-Binali, Ghada Y.

Publication type:

Case Study

Linking Genetics and Mechanics in Structural Protein Materials: A Case Study of an Alport Syndrome Mutation in Tropocollagen.

Published in:

Mathematics & Mechanics of Solids, 2010, v. 15, n. 7, p. 755, doi. 10.1177/1081286510374550

By:

SRINIVASAN, MAYA;
UZEL, SEBASTIEN G. M.;
GAUTIERI, ALFONSO;
KETEN, SINAN;
BUEHLER, MARKUS J.

Publication type:

Article

Immunohistochemical diagnosis of Alport's syndrome in paraffin-embedded renal sections: antigen retrieval with autoclave heating.

Published in:

Medical Electron Microscopy, 2003, v. 36, n. 1, p. 1, doi. 10.1007/s007950300000

By:

Naito, I.;
Ninomiya, Yoshifumi;
Nomura, S.

Publication type:

Article

Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.

Published in:

Journal of Genetics, 2017, v. 96, n. 2, p. 389, doi. 10.1007/s12041-017-0786-7

By:

Guo, Liwei;
Li, Duan;
Dong, Shuangshuang;
Wang, Donghao;
Yang, Baosheng;
Huang, Yanmei

Publication type:

Article

Pregnancy outcomes in patients with Alport syndrome.

Published in:

2016

By:

Yefet, Enav;
Tovbin, David;
Nachum, Zohar

Publication type:

journal article

Review of the literature on Alport syndrome: A rare cause of nephrotic syndrome.

Published in:

Annals of Medical of Research, 2021, v. 28, n. 9, p. 1791, doi. 10.5455/annalsmedres.2020.08.859

By:

Tecellioglu, Fahriye Secil;
Akpolat, Nusret;
Tabel, Yilmaz;
Gul, Mehmet

Publication type:

Article

Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation.

Published in:

International Journal of Nephrology & Renovascular Disease, 2018, v. 11, p. 267, doi. 10.2147/IJNRD.S150539

By:

Kashtan, Clifford E

Publication type:

Article

Delayed Diagnosis of Alport Syndrome Without Hematuria.

Published in:

Iranian Journal of Kidney Diseases, 2014, v. 8, n. 3, p. 250

By:

Chen Yin-Yin;
Peng You-Ming;
Liang Yu-Mei

Publication type:

Article

Alport syndrome and pregnancy: a case series and literature review.

Published in:

2018

By:

Brunini, Francesca;
Zaina, Barbara;
Gianfreda, Davide;
Ossola, Wally;
Giani, Marisa;
Fedele, Luigi;
Messa, Piergiorgio;
Moroni, Gabriella

Publication type:

journal article

End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand Dialysis and Transplant Registry cases.

Published in:

Nephrology Dialysis Transplantation, 2014, v. 29, n. 12, p. 2277, doi. 10.1093/ndt/gfu254

By:

Mallett, Andrew;
Tang, Wen;
Clayton, Philip A.;
Stevenson, Sarah;
McDonald, Stephen P.;
Hawley, Carmel M.;
Badve, Sunil V.;
Boudville, Neil;
Brown, Fiona G.;
Campbell, Scott B.;
Johnson, David W.

Publication type:

Article

Aortic abnormalities in males with Alport syndrome.

Published in:

Nephrology Dialysis Transplantation, 2010, v. 25, n. 11, p. 3554, doi. 10.1093/ndt/gfq271

By:

Kashtan, Clifford E.;
Segal, Yoav;
Flinter, Frances;
Makanjuola, David;
Gan, Jay-Sen;
Watnick, Terry

Publication type:

Article

Bilateral lens capsule rupture in a patient with previously undiagnosed Alport's syndrome.

Published in:

Ophthalmology Journal (2450-7873), 2021, p. 57, doi. 10.5603/OJ.2021.0010

By:

Banayot, Riyad G.;
Sargent, Nicholas

Publication type:

Article

Surgical Management of Anterior Lenticonus in a Patient with Alport's Syndrome.

Published in:

Turkish Journal of Medical Sciences, 2008, v. 38, n. 3, p. 269

By:

Can, Çiğdem ÜlkÜ;
Ilhan, Bayazıt;
Polat, Sibel;
Teberik, Kuddusi;
Zilelioğlu, Orhan

Publication type:

Article

A Case of Alport's Syndrome with Nyctalopia.

Published in:

Retina-Vitreus/Journal of Retina-Vitreous, 2017, v. 26, n. 1, p. 75

By:

POLAT GÜLTEKİN, Burcu;
HAMURCU, Mualla;
SERDAR, Kurtuluş;
EKİCİER ACAR, Selcan

Publication type:

Article

A Case of Alport's Syndrome with Nyctalopia.

Published in:

Retina-Vitreus/Journal of Retina-Vitreous, 2017, v. 25, p. 76

By:

POLAT GÜLTEKİN, Burcu;
HAMURCU, Mualla;
SERDAR, Kurtuluş;
EKİCİER ACAR, Selcan

Publication type:

Article

Angiotensin converting enzyme inhibitor therapy in children with Alport syndrome: effect on urinary albumin, TGF-β, and nitr ite excretion.

Published in:

BMC Nephrology, 2002, v. 3, p. 2, doi. 10.1186/1471-2369-3-2

By:

Adler, Liora;
Mathew, Roy;
Futterweit, Stephen;
Frank, Rachel;
Gauthier, Bernard G.;
Kashtan, Clifford E.;
Trachtman, Howard

Publication type:

Article

Treatment of breast cancer in a patient of Alport syndrome-induced chronic renal failure: A triumph story.

Published in:

2018

By:

Modi, Gaurang;
Madabhavi, Irappa;
Patel, Apurva;
Anand, Asha

Publication type:

Case Study

Siblings with Alport’s syndrome showing unique staining patterns for α5(IV) and α6(IV) chains of collagen type IV.

Published in:

Clinical & Experimental Nephrology, 2010, v. 14, n. 3, p. 283, doi. 10.1007/s10157-010-0265-4

By:

Tsuji, Takayuki;
Fujigaki, Yoshihide;
Sakakima, Masanori;
Sado, Yoshikazu;
Hishida, Akira

Publication type:

Article

Maculopathy, Fundus Changes and Anterior Lenticonus in Alport Syndrome.

Published in:

2021

By:

Ratkovic, Mirko;
Pidro, Ajla;
Pidro, Aida

Publication type:

Case Study

Cyclosporine A treatment in patients with Alport syndrome: a single-center experience.

Published in:

Pediatric Nephrology, 2010, v. 25, n. 7, p. 1269, doi. 10.1007/s00467-010-1484-3

By:

Massella, Laura;
Muda, Andrea;
Legato, Antonia;
Zazzo, Giacomo;
Giannakakis, Kostas;
Emma, Francesco

Publication type:

Article

Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.

Published in:

2008

By:

Nozu, Kandai;
Przybyslaw Krol, Rafal;
Ohtsuka, Yasufumi;
Nakanishi, Koichi;
Yoshikawa, Norishige;
Nozu, Yoshimi;
Kaito, Hiroshi;
Kanda, Kyoko;
Hashimura, Yuya;
Hamasaki, Yuhei;
Iijima, Kazumoto;
Matsuo, Masafumi

Publication type:

Report

The use of ocular abnormalities to diagnose X-linked Alport syndrome in children.

Published in:

Pediatric Nephrology, 2008, v. 23, n. 8, p. 1245, doi. 10.1007/s00467-008-0759-4

By:

Ke Wei Zhang;
Colville, Deb;
Tan, Rachel;
Jones, Colin;
Alexander, Stephen I.;
Fletcher, Jeffrey;
Savige, Judy

Publication type:

Article

The effect of aldosterone blockade in patients with Alport syndrome.

Published in:

Pediatric Nephrology, 2006, v. 21, n. 12, p. 1824, doi. 10.1007/s00467-006-0270-8

By:

Kaito, Hiroshi;
Nozu, Kandai;
Iijima, Kazumoto;
Nakanishi, Koichi;
Yoshiya, Kunihiko;
Kanda, Kyoko;
Przybyslaw Krol, Rafal;
Yoshikawa, Norishige;
Matsuo, Masafumi

Publication type:

Article

The importance of non-invasive genetic analysis in the initial diagnostics of Alport syndrome in young patients.

Published in:

Pediatric Nephrology, 2005, v. 20, n. 9, p. 1260, doi. 10.1007/s00467-005-1975-9

By:

Šlajpah, Maja;
Meglič, Anamarija;
Furlan, Polonca;
Glavač, Damjan

Publication type:

Article

En face optical coherence tomography findings in a case of Alport syndrome.

Published in:

Indian Journal of Ophthalmology, 2017, v. 65, n. 9, p. 877, doi. 10.4103/ijo.IJO_303_17

By:

In Hwan Cho;
Hoon Dong Kim;
Sang Joon Jung;
Tae Kwann Park

Publication type:

Article

Living related kidney transplantation in a patient with autosomal-recessive Alport syndrome.

Published in:

Clinical Transplantation, 2003, v. 17, p. 4, doi. 10.1034/j.1399-0012.17.s10.5.x

By:

Sakai, Ken;
Muramatsu, Masaki;
Ogiwara, Hidetaka;
Kawamura, Takeshi;
Arai, Kenji;
Aikawa, Atsushi;
Ohara, Takehiro;
Mizuiri, Sonoo;
Joh, Kensuke;
Naito, Ichiro;
Hasegawa, Akira

Publication type:

Article

Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS).

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00748

By:

Zhu, Feng;
Li, Wencheng;
Li, Zhenqiong;
Zhu, Hongyan;
Xiong, Jing

Publication type:

Article

Regulation of collagen type IV genes is organ-specific: Evidence from a canine model of Alport syndrome.

Published in:

Kidney International, 2005, v. 68, n. 5, p. 2121, doi. 10.1111/j.1523-1755.2005.00668.x

By:

Keqin Zheng;
Perry, Julie;
Harvey, Scott J.;
Sado, Yoshikazu;
Ninomiya, Yoshifumi;
Jefferson, Barbara;
Jacobs, Robert;
Hudson, Billy G.;
Thorner, Paul S.

Publication type:

Article

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.

Published in:

Kidney International, 2004, v. 65, n. 6, p. 2030, doi. 10.1111/j.1523-1755.2004.00622.x

By:

Arrondel, Christelle;
Deschiêenes, Georges;
Le Meur, Yannick;
Viau, Amandine;
Cordonnier, Christophe;
Fournier, Alain;
Amadeo, Stephane;
Gubler, Marie-Claire;
Antignac, Corinne;
Heidet, Laurence

Publication type:

Article

GENETIC DISORDERS - DEVELOPMENT Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene.

Published in:

Kidney International, 2004, v. 65, n. 5, p. 1598, doi. 10.1111/j.1523-1755.2004.00560.x

By:

Pescucci, Chiara;
Mari, Francesca;
Longo, Ilaria;
Vogiatzi, Paraskevi;
Caselli, Rossella;
Scala, Elisa;
Abaterusso, Cataldo;
Gusmano, Rosanna;
Seri, Marco;
Miglietti, Nunzia;
Bresin, Elena;
Renieri, Alessandra

Publication type:

Article

Increased expression of MMP-2, MMP-9 (type IV collagenases/gelatinases), and MT1-MMP in canine X-linked Alport syndrome (XLAS).

Published in:

Kidney International, 2003, v. 63, n. 5, p. 1736, doi. 10.1046/j.1523-1755.2003.00939.x

By:

Rao, Velidi H.;
Lees, George E.;
Kashtan, Clifford E.;
Nemori, Ryochi;
Singh, Rakesh K.;
Meehan, Daniel T.;
Rodgers, Kathyrn;
Berridge, Brian R.;
Bhattacharya, Gautam;
Cosgrove, Dominic

Publication type:

Article

Recurrent corneal erosion associated with Alport's syndrome.

Published in:

Kidney International, 1997, v. 52, n. 1, p. 208, doi. 10.1038/ki.1997.321

By:

Rhys, Ceril;
Snyers, Bernadette;
Pirson, Yves

Publication type:

Article

Temporal Bone Histopathology of X‐linked Inherited Alport Syndrome.

Published in:

Laryngoscope Investigative Otolaryngology, 2018, v. 3, n. 4, p. 311, doi. 10.1002/lio2.177

By:

Ungar, Omer J.;
Nadol, Joseph B.;
Santos, Felipe

Publication type:

Article

Renal transplantation in patients with Alport syndrome.

Published in:

Pediatric Transplantation, 2006, v. 10, n. 6, p. 651, doi. 10.1111/j.1399-3046.2006.00528.x

By:

Kashtan, Clifford E.

Publication type:

Article

Improved genetic counseling in Alport syndrome by new variants of COL4A5 gene.

Published in:

Nephrology, 2015, v. 20, n. 7, p. 502, doi. 10.1111/nep.12486

By:

Fernandez‐Rosado, Francisco;
Campos, Ana;
Alvarez‐Cubero, Maria Jesus;
Ruiz, Ana;
Entrala‐Bernal, Carmen

Publication type:

Article

Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China.

Published in:

Nephrology, 2011, v. 16, n. 4, p. 377, doi. 10.1111/j.1440-1797.2010.01438.x

By:

Hongwen Zhang;
Jie Ding;
Fang Wang;
Dan Zhao

Publication type:

Article

Finerenone and other future therapeutic options for Alport syndrome.

Published in:

Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00022-x

By:

Pearce, Helen;
Mabillard, Holly

Publication type:

Article

Explaining Alport syndrome—lessons from the adult nephrology clinic.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00036-z

By:

Mabillard, Holly;
Ryan, Rebecca;
Tzoumas, Nik;
Gear, Susie;
Sayer, John A.

Publication type:

Article

Early lamellar macular hole in Alport syndrome: case report and review of the literature.

Published in:

2012

By:

Scassa, C.;
Cupo, G.;
Bruno, M.;
Iervolino, R.;
Scarinci, F.;
Giusti, C.

Publication type:

Case Study

Clear Lens Phacoemulsification with Implantation of Intraocular Lens in a Case of Bilateral Anterior Lenticonus Due to Alport Syndrome.

Published in:

Pakistan Journal of Ophthalmology, 2023, v. 39, n. 1, p. 72, doi. 10.36351/pjo.v39i1.1402

By:

Jabbar, Maryam;
Rashid, Faisal;
Fatima, Naseer;
Ahmad, Hafiz Masood

Publication type:

Article

ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease!

Published in:

2017

By:

Gillion, Valentine;
Jadoul, Michel;
Aydin, Selda;
Godefroid, Nathalie

Publication type:

journal article

A patient with MEN1 and end-stage chronic kidney disease due to Alport syndrome: Decision making on the eligibility of transplantation.

Published in:

Molecular & Clinical Oncology, 2018, v. 8, n. 3, p. 449, doi. 10.3892/mco.2017.1542

By:

Matrone, Antonio;
Brancatella, Alessandro;
Marchetti, Piero;
Vasile, Enrico;
Boggi, Ugo;
Elisei, Rossella;
Cetani, Filomena;
Marcocci, Claudio;
Vitti, Paolo;
Latrofa, Francesco

Publication type:

Article

Genetic testing can resolve diagnostic confusion in Alport syndrome.

Published in:

Clinical Kidney Journal, 2014, v. 7, n. 2, p. 197, doi. 10.1093/ckj/sft144

By:

Adam, Jennifer;
Connor, Thomas M. F.;
Wood, Katrina;
Lewis, David;
Naik, Ramesh;
Gale, Daniel P.;
Sayer, John A.

Publication type:

Article

The Transition from Thin Basement Membranes to Typical Alport Syndrome Morphology in Children.

Published in:

Fetal & Pediatric Pathology, 2016, v. 35, n. 6, p. 369, doi. 10.1080/15513815.2016.1202362

By:

Baek, Heesun;
Lee, Sang-In;
Park, Taein;
Cho, Minhyun

Publication type:

Article

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.

Published in:

Indian Journal of Medical Research, 2016, v. 144, n. 2, p. 200, doi. 10.4103/0971-5916.195026

By:

Sheng Deng;
Hongbo Xu;
Jinzhong Yuan;
Jingjing Xiao;
Lamei Yuan;
Xiong Deng;
Liping Guan;
Anding Zhu;
Pengfei Rong;
Jianguo Zhang;
Hao Deng

Publication type:

Article

Trypsin Digestion on Paraffin Sections Is a Useful Tool for Diagnosis of Alport Syndrome.

Published in:

Ultrastructural Pathology, 2010, v. 34, n. 4, p. 199, doi. 10.3109/01913121003725739

By:

Jiang, Ying Song;
Ehara, Takashi

Publication type:

Article

Alport syndrome: impact of digenic inheritance in patients management.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 34, doi. 10.1111/cge.12919

By:

Fallerini, C.;
Baldassarri, M.;
Trevisson, E.;
Morbidoni, V.;
La Manna, A.;
Lazzarin, R.;
Pasini, A.;
Barbano, G.;
Pinciaroli, A.R.;
Garosi, G.;
Frullanti, E.;
Pinto, A.M.;
Mencarelli, M.A.;
Mari, F.;
Renieri, A.;
Ariani, F.

Publication type:

Article