Pesquisa | Biblioteca Virtual em Saúde

1.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi, Simone; Khan, Kamal; Westland, Rik; Krithivasan, Priya; Fievet, Lorraine; Rasouly, Hila Milo; Ionita-Laza, Iuliana; Capone, Valentina P; Fasel, David A; Kiryluk, Krzysztof; Kamalakaran, Sitharthan; Bodria, Monica; Otto, Edgar A; Sampson, Matthew G; Gillies, Christopher E; Vega-Warner, Virginia; Vukojevic, Katarina; Pediaditakis, Igor; Makar, Gabriel S; Mitrotti, Adele; Verbitsky, Miguel; Martino, Jeremiah; Liu, Qingxue; Na, Young-Ji; Goj, Vinicio; Ardissino, Gianluigi; Gigante, Maddalena; Gesualdo, Loreto; Janezcko, Magdalena; Zaniew, Marcin; Mendelsohn, Cathy Lee; Shril, Shirlee; Hildebrandt, Friedhelm; van Wijk, Joanna A E; Arapovic, Adela; Saraga, Marijan; Allegri, Landino; Izzi, Claudia; Scolari, Francesco; Tasic, Velibor; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Mane, Shrikant; Goldstein, David B; Lifton, Richard P; Katsanis, Nicholas; Davis, Erica E; Gharavi, Ali G.

Am J Hum Genet; 101(5): 789-802, 2017 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-29100090

2.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Lopez-Rivera, Esther; Liu, Yangfan P; Verbitsky, Miguel; Anderson, Blair R; Capone, Valentina P; Otto, Edgar A; Yan, Zhonghai; Mitrotti, Adele; Martino, Jeremiah; Steers, Nicholas J; Fasel, David A; Vukojevic, Katarina; Deng, Rong; Racedo, Silvia E; Liu, Qingxue; Werth, Max; Westland, Rik; Vivante, Asaf; Makar, Gabriel S; Bodria, Monica; Sampson, Matthew G; Gillies, Christopher E; Vega-Warner, Virginia; Maiorana, Mariarosa; Petrey, Donald S; Honig, Barry; Lozanovski, Vladimir J; Salomon, Rémi; Heidet, Laurence; Carpentier, Wassila; Gaillard, Dominique; Carrea, Alba; Gesualdo, Loreto; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna A E; Arapovic, Adela; Saraga-Babic, Mirna; Saraga, Marijan; Kunac, Nenad; Samii, Ali; McDonald-McGinn, Donna M; Crowley, Terrence B; Zackai, Elaine H; Drozdz, Dorota; Miklaszewska, Monika; Tkaczyk, Marcin; Sikora, Przemyslaw; Szczepanska, Maria.

N Engl J Med; 376(8): 742-754, 2017 02 23.

Artigo em Inglês | MEDLINE | ID: mdl-28121514

3.

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

Ebarasi, Lwaki; Ashraf, Shazia; Bierzynska, Agnieszka; Gee, Heon Yung; McCarthy, Hugh J; Lovric, Svjetlana; Sadowski, Carolin E; Pabst, Werner; Vega-Warner, Virginia; Fang, Humphrey; Koziell, Ania; Simpson, Michael A; Dursun, Ismail; Serdaroglu, Erkin; Levy, Shawn; Saleem, Moin A; Hildebrandt, Friedhelm; Majumdar, Arindam.

Am J Hum Genet; 96(1): 153-61, 2015 Jan 08.

Artigo em Inglês | MEDLINE | ID: mdl-25557779

4.

Mutations in EMP2 cause childhood-onset nephrotic syndrome.

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

Am J Hum Genet; 94(6): 884-90, 2014 Jun 05.

Artigo em Inglês | MEDLINE | ID: mdl-24814193

5.

Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.

Sampson, Matthew G; Gillies, Christopher E; Robertson, Catherine C; Crawford, Brendan; Vega-Warner, Virginia; Otto, Edgar A; Kretzler, Matthias; Kang, Hyun Min.

J Am Soc Nephrol; 27(7): 1970-83, 2016 07.

Artigo em Inglês | MEDLINE | ID: mdl-26534921

6.

Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.

Sampson, Matthew G; Robertson, Catherine C; Martini, Sebastian; Mariani, Laura H; Lemley, Kevin V; Gillies, Christopher E; Otto, Edgar A; Kopp, Jeffrey B; Randolph, Anne; Vega-Warner, Virginia; Eichinger, Felix; Nair, Viji; Gipson, Debbie S; Cattran, Daniel C; Johnstone, Duncan B; O'Toole, John F; Bagnasco, Serena M; Song, Peter X; Barisoni, Laura; Troost, Jonathan P; Kretzler, Matthias; Sedor, John R.

J Am Soc Nephrol; 27(3): 814-23, 2016 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-26150607

7.

tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.

Gillies, Christopher E; Otto, Edgar A; Vega-Warner, Virginia; Robertson, Catherine C; Sanna-Cherchi, Simone; Gharavi, Ali; Crawford, Brendan; Bhimma, Rajendra; Winkler, Cheryl; Kang, Hyun Min; Sampson, Matthew G.

BMC Bioinformatics; 17(1): 233, 2016 Jun 10.

Artigo em Inglês | MEDLINE | ID: mdl-27287006

8.

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Sadowski, Carolin E; Lovric, Svjetlana; Ashraf, Shazia; Pabst, Werner L; Gee, Heon Yung; Kohl, Stefan; Engelmann, Susanne; Vega-Warner, Virginia; Fang, Humphrey; Halbritter, Jan; Somers, Michael J; Tan, Weizhen; Shril, Shirlee; Fessi, Inès; Lifton, Richard P; Bockenhauer, Detlef; El-Desoky, Sherif; Kari, Jameela A; Zenker, Martin; Kemper, Markus J; Mueller, Dominik; Fathy, Hanan M; Soliman, Neveen A; Hildebrandt, Friedhelm.

J Am Soc Nephrol; 26(6): 1279-89, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25349199

9.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi, Simone; Khan, Kamal; Westland, Rik; Krithivasan, Priya; Fievet, Lorraine; Rasouly, Hila Milo; Ionita-Laza, Iuliana; Capone, Valentina P; Fasel, David A; Kiryluk, Krzysztof; Kamalakaran, Sitharthan; Bodria, Monica; Otto, Edgar A; Sampson, Matthew G; Gillies, Christopher E; Vega-Warner, Virginia; Vukojevic, Katarina; Pediaditakis, Igor; Makar, Gabriel S; Mitrotti, Adele; Verbitsky, Miguel; Martino, Jeremiah; Liu, Qingxue; Na, Young-Ji; Goj, Vinicio; Ardissino, Gianluigi; Gigante, Maddalena; Gesualdo, Loreto; Janezcko, Magdalena; Zaniew, Marcin; Mendelsohn, Cathy Lee; Shril, Shirlee; Hildebrandt, Friedhelm; van Wijk, Joanna A E; Arapovic, Adela; Saraga, Marijan; Allegri, Landino; Izzi, Claudia; Scolari, Francesco; Tasic, Velibor; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Mane, Shrikant; Goldstein, David B; Lifton, Richard P; Katsanis, Nicholas; Davis, Erica E; Gharavi, Ali G.

Am J Hum Genet; 101(6): 1034, 2017 Dec 07.

Artigo em Inglês | MEDLINE | ID: mdl-29220675

10.

Integrin α3 mutations with kidney, lung, and skin disease.

Has, Cristina; Spartà, Giuseppina; Kiritsi, Dimitra; Weibel, Lisa; Moeller, Alexander; Vega-Warner, Virginia; Waters, Aoife; He, Yinghong; Anikster, Yair; Esser, Philipp; Straub, Beate K; Hausser, Ingrid; Bockenhauer, Detlef; Dekel, Benjamin; Hildebrandt, Friedhelm; Bruckner-Tuderman, Leena; Laube, Guido F.

N Engl J Med; 366(16): 1508-14, 2012 Apr 19.

Artigo em Inglês | MEDLINE | ID: mdl-22512483

11.

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.

Montgomery, Emma; Sayer, John A; Baines, Laura A; Hynes, Ann Marie; Vega-Warner, Virginia; Johnson, Sally; Goodship, Judith A; Otto, Edgar A.

BMC Med Genet; 16: 35, 2015 Jun 04.

Artigo em Inglês | MEDLINE | ID: mdl-26040326

12.

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

Gee, Heon Yung; Otto, Edgar A; Hurd, Toby W; Ashraf, Shazia; Chaki, Moumita; Cluckey, Andrew; Vega-Warner, Virginia; Saisawat, Pawaree; Diaz, Katrina A; Fang, Humphrey; Kohl, Stefan; Allen, Susan J; Airik, Rannar; Zhou, Weibin; Ramaswami, Gokul; Janssen, Sabine; Fu, Clementine; Innis, Jamie L; Weber, Stefanie; Vester, Udo; Davis, Erica E; Katsanis, Nicholas; Fathy, Hanan M; Jeck, Nikola; Klaus, Gunther; Nayir, Ahmet; Rahim, Khawla A; Al Attrach, Ibrahim; Al Hassoun, Ibrahim; Ozturk, Savas; Drozdz, Dorota; Helmchen, Udo; O'Toole, John F; Attanasio, Massimo; Lewis, Richard A; Nürnberg, Gudrun; Nürnberg, Peter; Washburn, Joseph; MacDonald, James; Innis, Jeffrey W; Levy, Shawn; Hildebrandt, Friedhelm.

Kidney Int; 85(4): 880-7, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-24257694

13.

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

Kerti, Andrea; Csohány, Rózsa; Szabó, Attila; Arkossy, Ottó; Sallay, Péter; Moriniére, Vincent; Vega-Warner, Virginia; Nyíro, Gábor; Lakatos, Orsolya; Szabó, Tamás; Lipska, Beata S; Schaefer, Franz; Antignac, Corinne; Reusz, George; Tulassay, Tivadar; Tory, Kálmán.

Pediatr Nephrol; 28(5): 751-7, 2013 May.

Artigo em Inglês | MEDLINE | ID: mdl-23242530

14.

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Saisawat, Pawaree; Tasic, Velibor; Vega-Warner, Virginia; Kehinde, Elijah O; Günther, Barbara; Airik, Rannar; Innis, Jeffrey W; Hoskins, Bethan E; Hoefele, Julia; Otto, Edgar A; Hildebrandt, Friedhelm.

Kidney Int; 81(2): 196-200, 2012 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-21900877

15.

Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Crawford, Brendan D; Gillies, Christopher E; Robertson, Catherine C; Kretzler, Matthias; Otto, Edgar A; Vega-Warner, Virginia; Sampson, Matthew G.

Pediatr Nephrol; 32(7): 1285, 2017 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-28349212

16.

Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.

Ovunc, Bugsu; Ashraf, Shazia; Vega-Warner, Virginia; Bockenhauer, Detlef; Elshakhs, Neveen A Soliman; Joseph, Mark; Hildebrandt, Friedhelm.

Nephron Clin Pract; 120(3): c139-46, 2012.

Artigo em Inglês | MEDLINE | ID: mdl-22584503

17.

A systematic approach to mapping recessive disease genes in individuals from outbred populations.

Hildebrandt, Friedhelm; Heeringa, Saskia F; Rüschendorf, Franz; Attanasio, Massimo; Nürnberg, Gudrun; Becker, Christian; Seelow, Dominik; Huebner, Norbert; Chernin, Gil; Vlangos, Christopher N; Zhou, Weibin; O'Toole, John F; Hoskins, Bethan E; Wolf, Matthias T F; Hinkes, Bernward G; Chaib, Hassan; Ashraf, Shazia; Schoeb, Dominik S; Ovunc, Bugsu; Allen, Susan J; Vega-Warner, Virginia; Wise, Eric; Harville, Heather M; Lyons, Robert H; Washburn, Joseph; Macdonald, James; Nürnberg, Peter; Otto, Edgar A.

PLoS Genet; 5(1): e1000353, 2009 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-19165332

18.

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.

Ovunc, Bugsu; Otto, Edgar A; Vega-Warner, Virginia; Saisawat, Pawaree; Ashraf, Shazia; Ramaswami, Gokul; Fathy, Hanan M; Schoeb, Dominik; Chernin, Gil; Lyons, Robert H; Yilmaz, Engin; Hildebrandt, Friedhelm.

J Am Soc Nephrol; 22(10): 1815-20, 2011 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-21903995

19.

Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation.

Baskin, Esra; Selda Bayrakci, Umut; Alehan, Füsun; Ozdemir, Handan; Oner, Ayse; Horvath, Rita; Vega-Warner, Virginia; Hildebrandt, Friedhelm; Ozaltin, Fatih.

Pediatr Nephrol; 26(7): 1157-61, 2011 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-21365190

20.

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

Schoeb, Dominik S; Chernin, Gil; Heeringa, Saskia F; Matejas, Verena; Held, Susanne; Vega-Warner, Virginia; Bockenhauer, Detlef; Vlangos, Christopher N; Moorani, Khemchand N; Neuhaus, Thomas J; Kari, Jameela A; MacDonald, James; Saisawat, Pawaree; Ashraf, Shazia; Ovunc, Bugsu; Zenker, Martin; Hildebrandt, Friedhelm.

Nephrol Dial Transplant; 25(9): 2970-6, 2010 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-20172850

Biblioteca Virtual em Saúde

Brasil

Sua seleção (0)

Formato de exportação:

Exportar:

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

Mutations in EMP2 cause childhood-onset nephrotic syndrome.

Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.

Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.

tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Integrin α3 mutations with kidney, lung, and skin disease.

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.

A systematic approach to mapping recessive disease genes in individuals from outbred populations.

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.

Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation.

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).