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Select item 46368951.

Toll-like receptor 3 expression and function in childhood idiopathic nephrotic syndrome

A Jamin, L Dehoux, C Dossier, M Fila, N Heming, R C Monteiro, G Deschênes

Clin Exp Immunol. 2015 Dec; 182(3): 332–345. Published online 2015 Sep 30. doi: 10.1111/cei.12659

PMCID:: PMC4636895

Abstract Article PDF–344K

Select item 40467282.

Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

Svjetlana Lovric, Humphrey Fang, Virginia Vega-Warner, Carolin E. Sadowski, Heon Yung Gee, Jan Halbritter, Shazia Ashraf, Pawaree Saisawat, Neveen A. Soliman, Jameela A. Kari, Edgar A. Otto, Friedhelm Hildebrandt

Clin J Am Soc Nephrol. 2014 Jun 6; 9(6): 1109–1116. Published online 2014 Apr 17. doi: 10.2215/CJN.09010813

PMCID:: PMC4046728

Abstract Article

Select item 40995293.

Childhood-onset dense deposit disease: a rare cause of proteinuria

K. Taranta-Janusz, A. Wasilewska, B. Szynaka

Ir J Med Sci. 2014; 183(3): 455–459. Published online 2013 Dec 14. doi: 10.1007/s11845-013-1041-8

PMCID:: PMC4099529

Abstract Article PDF–1013K

Select item 41214704.

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

Heon Yung Gee, Shazia Ashraf, Xiaoyang Wan, Virginia Vega-Warner, Julian Esteve-Rudd, Svjetlana Lovric, Humphrey Fang, Toby W. Hurd, Carolin E. Sadowski, Susan J. Allen, Edgar A. Otto, Emine Korkmaz, Joseph Washburn, Shawn Levy, David S. Williams, Sevcan A. Bakkaloglu, Anna Zolotnitskaya, Fatih Ozaltin, Weibin Zhou, Friedhelm Hildebrandt

Am J Hum Genet. 2014 Jun 5; 94(6): 884–890. doi: 10.1016/j.ajhg.2014.04.010

PMCID:: PMC4121470

Abstract Article PDF–2.2M

Select item 43339575.

Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis – a single-centre experience

Agnieszka Bińczak-Kuleta, Jacek Rubik, Mieczysław Litwin, Małgorzata Ryder, Klaudyna Lewandowska, Olga Taryma-Leśniak, Jeremy S. Clark, Ryszard Grenda, Andrzej Ciechanowicz

Bosn J Basic Med Sci. 2014 May; 14(2): 89–93. doi: 10.17305/bjbms.2014.2270

PMCID:: PMC4333957

Abstract Article PDF–82K

Select item 43862506.

Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort

Agnes Trautmann, Monica Bodria, Fatih Ozaltin, Alaleh Gheisari, Anette Melk, Marta Azocar, Ali Anarat, Salim Caliskan, Francesco Emma, Jutta Gellermann, Jun Oh, Esra Baskin, Joanna Ksiazek, Giuseppe Remuzzi, Ozlem Erdogan, Sema Akman, Jiri Dusek, Tinatin Davitaia, Ozan Özkaya, Fotios Papachristou, Agnieszka Firszt-Adamczyk, Tomasz Urasinski, Sara Testa, Rafael T. Krmar, Lidia Hyla-Klekot, Andrea Pasini, Z. Birsin Özcakar, Peter Sallay, Nilgun Cakar, Monica Galanti, Joelle Terzic, Bilal Aoun, Alberto Caldas Afonso, Hanna Szymanik-Grzelak, Beata S. Lipska, Sven Schnaidt, Franz Schaefer

Clin J Am Soc Nephrol. 2015 Apr 7; 10(4): 592–600. Published online 2015 Jan 29. doi: 10.2215/CJN.06260614

PMCID:: PMC4386250

Abstract Article

Select item 44835797.

HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome

Rasheed A. Gbadegesin, Adebowale Adeyemo, Nicholas J.A. Webb, Larry A. Greenbaum, Asiri Abeyagunawardena, Shenal Thalgahagoda, Arundhati Kale, Debbie Gipson, Tarak Srivastava, Jen-Jar Lin, Deepa Chand, Tracy E. Hunley, Patrick D. Brophy, Arvind Bagga, Aditi Sinha, Michelle N. Rheault, Joanna Ghali, Kathy Nicholls, Elizabeth Abraham, Halima S. Janjua, Abiodun Omoloja, Gina-Marie Barletta, Yi Cai, David D. Milford, Catherine O'Brien, Atif Awan, Vladimir Belostotsky, William E. Smoyer, Alison Homstad, Gentzon Hall, Guanghong Wu, Shashi Nagaraj, Delbert Wigfall, John Foreman, Michelle P. Winn, Members of the Mid-West Pediatric Nephrology Consortium

J Am Soc Nephrol. 2015 Jul; 26(7): 1701–1710. Published online 2014 Oct 27. doi: 10.1681/ASN.2014030247

PMCID:: PMC4483579

Abstract Article

Select item 45802248.

Cytomegalovirus infection can mimic genetic nephrotic syndrome: a case report

Julien Hogan, Marc Fila, Véronique Baudouin, Michel Peuchmaur, Georges Deschênes, Olivier Niel

BMC Nephrol. 2015; 16: 156. Published online 2015 Sep 22. doi: 10.1186/s12882-015-0152-z

PMCID:: PMC4580224

Abstract Article PDF–304K

Select item 45969159.

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

Noriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu, Akemi Shono, Satoko Matsunaga, Masaaki Shiina, Yasuhiro Mimura, Shintaro Imamura, Tomonori Hirose, Koji Okudela, Kandai Nozu, Yuko Akioka, Motoshi Hattori, Norishige Yoshikawa, Akiko Kitamura, Hae Il Cheong, Shoji Kagami, Michiaki Yamashita, Atsushi Fujita, Satoko Miyatake, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kenichi Ohashi, Naoko Imamoto, Akihide Ryo, Kazuhiro Ogata, Kazumoto Iijima, Naomichi Matsumoto

Am J Hum Genet. 2015 Oct 1; 97(4): 555–566. Published online 2015 Sep 24. doi: 10.1016/j.ajhg.2015.08.013

PMCID:: PMC4596915

Abstract Article PDF–2.0M

Select item 378805710.

Bone marrow transplantation in Schimke immuno-osseous dysplasia

Alireza Baradaran-Heravi, Jonas Lange, Yumi Asakura, Pierre Cochat, Laura Massella, Cornelius F. Boerkoel

Am J Med Genet A. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Am J Med Genet A. 2013 Oct; 161(10): 2609–2613. Published online 2013 Aug 15. doi: 10.1002/ajmg.a.36111

PMCID:: PMC3788057

Abstract Article PDF–48K

Select item 474390911.

A Novel Splice Site Mutation in SMARCAL1 Results in Aberrant Exon Definition in a Child with Schimke Immunoosseous Dysplasia

Clinton Carroll, Tracy E. Hunley, Yan Guo, David Cortez

Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Am J Med Genet A. 2015 Oct; 0(10): 2260–2264. Published online 2015 May 5. doi: 10.1002/ajmg.a.37146

PMCID:: PMC4743909

Abstract Article PDF–1.2M

Select item 492803512.

Idiopathic membranous nephropathy and IgG4: an interesting relationship

Edward J. Filippone

Clin Nephrol. 2014 Jul; 82(1): 7–15. Published online 2013 Feb 5. doi: 10.5414/CN107768

PMCID:: PMC4928035

Abstract Article PDF–321K

Select item 505460913.

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro, Dejan Lazarevic, Salvatore Zirpoli, Andrea Farolfi, Cristina Gervasini, Maria Vittoria Cubellis, Lidia Larizza

Orphanet J Rare Dis. 2016; 11: 136. Published online 2016 Oct 7. doi: 10.1186/s13023-016-0514-z

PMCID:: PMC5054609

Abstract Article PDF–2.5M

Select item 527680114.

GENETICS OF CHILDHOOD STEROID SENSITIVE NEPHROTIC SYNDROME (SSNS)

Alana M. Karp, Rasheed A. Gbadegesin

Pediatr Nephrol. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Pediatr Nephrol. 2017 Sep; 32(9): 1481–1488. Published online 2016 Jul 29. doi: 10.1007/s00467-016-3456-8

PMCID:: PMC5276801

Abstract Article PDF–623K

Select item 536304215.

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation

Tomohiro Nakata, Ryo Ishida, Yuu Mihara, Atsuko Fujii, Yoshimoto Inoue, Tetsuro Kusaba, Tsuyoshi Isojima, Yutaka Harita, Chiaki Kanda, Sachiko Kitanaka, Keiichi Tamagaki

BMC Nephrol. 2017; 18: 100. Published online 2017 Mar 23. doi: 10.1186/s12882-017-0516-7

PMCID:: PMC5363042

Abstract Article PDF–1.2M

Select item 540772016.

MAGI2 Mutations Cause Congenital Nephrotic Syndrome

Agnieszka Bierzynska, Katrina Soderquest, Philip Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol D. Inward, Hugh J. McCarthy, Michael A. Simpson, Graham M. Lord, Maggie Williams, Gavin I. Welsh, Ania B. Koziell, Moin A. Saleem

J Am Soc Nephrol. 2017 May; 28(5): 1614–1621. Published online 2016 Dec 8. doi: 10.1681/ASN.2016040387

PMCID:: PMC5407720

Abstract Article

Select item 549547817.

Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome

Gil Chernin, Saskia F. Heeringa, Rasheed Gbadegesin, Jinhong Liu, Bernward G. Hinkes, Christopher N. Vlangos, Virginia Vega-Warner, Friedhelm Hildebrandt

Pediatr Nephrol. Author manuscript; available in PMC 2017 Jul 3.

Published in final edited form as: Pediatr Nephrol. 2008 Sep; 23(9): 1455–1460. Published online 2008 Jun 10. doi: 10.1007/s00467-008-0861-7

PMCID:: PMC5495478

Abstract Article PDF–72K

Select item 552963018.

NPHS2 Mutations: A Closer Look to Latin American Countries

Mara Sanches Guaragna, Anna Cristina G. B. Lutaif, Andréa T. Maciel-Guerra, Vera M. S. Belangero, Gil Guerra-Júnior, Maricilda P. De Mello

Biomed Res Int. 2017; 2017: 7518789. Published online 2017 Jul 12. doi: 10.1155/2017/7518789

PMCID:: PMC5529630

Abstract Article PDF–1024K

Select item 277740619.

A Novel TRPC6 Mutation That Causes Childhood FSGS

Saskia F. Heeringa, Clemens C. Möller, Jianyang Du, Lixia Yue, Bernward Hinkes, Gil Chernin, Christopher N. Vlangos, Peter F. Hoyer, Jochen Reiser, Friedhelm Hildebrandt

PLoS One. 2009; 4(11): e7771. Published online 2009 Nov 10. doi: 10.1371/journal.pone.0007771

PMCID:: PMC2777406

Abstract Article PDF–351K

Select item 48409120.

Hyperlipidaemia in children.

J K Lloyd

Br Heart J. 1975 Feb; 37(2): 105–114. doi: 10.1136/hrt.37.2.105

PMCID:: PMC484091

Summary Page Browse PDF–1.6M

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