Publications by authors named "Monica Furlano"

18Publications

How genomics reclassifies diseases: the case of Alport syndrome.

Clin Kidney J 2020 Dec 16;13(6):933-935. Epub 2020 Sep 16.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autónoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain.

View Article and Find Full Text PDF
December 2020

English-Latin nomenclature conundrum: should we use kidneylogy, kidneylogist?

Kidney Int 2020 11;98(5):1352-1353

Department of Nephrology, General University Hospital, First Faculty of Medicine, Charles University, Prague, Czech Republic.

View Article and Find Full Text PDF
November 2020

Recommendations for the management of renal involvement in the tuberous sclerosis complex.

Nefrologia 2020 Mar - Apr;40(2):142-151. Epub 2019 Nov 10.

Enfermedades Renales Hereditarias, Servicio de Nefrología, Fundació Puigvert, IIB Sant Pau, Universitat Autónoma de Barcelona, REDINREN, Barcelona, España. Electronic address:

View Article and Find Full Text PDF
November 2019

New therapeutic options for Alport syndrome.

Nephrol Dial Transplant 2019 08;34(8):1272-1279

Inherited Renal Disorders, Nephrology Department, Fundació Puigvert, REDINREN, IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

View Article and Find Full Text PDF
August 2019

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.

BMC Nephrol 2019 04 11;20(1):126. Epub 2019 Apr 11.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.

View Article and Find Full Text PDF
April 2019

MYH9 Associated nephropathy.

Nefrologia 2019 Mar - Apr;39(2):133-140. Epub 2018 Nov 22.

Enfermedades Renales Hereditarias, Servicio de Nefrología, Fundació Puigvert, Barcelona, España; Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, España; Departamento de Medicina, Universidad Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, España. Electronic address:

View Article and Find Full Text PDF
January 2020

Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression.

Am J Nephrol 2018 22;48(4):308-317. Epub 2018 Oct 22.

Department of Nephrology, Inherited Renal Disorders, Fundació Puigvert, REDINREN, IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

View Article and Find Full Text PDF
January 2020

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Kidney Int 2018 08 22;94(2):363-371. Epub 2018 May 22.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Red de Investigación Renal (REDINREN), Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain. Electronic address:

View Article and Find Full Text PDF
August 2018

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.

Am J Kidney Dis 2018 09 18;72(3):411-418. Epub 2018 May 18.

Inherited Kidney Disorders, Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, Barcelona; REDinREN, Instituto de Investigación Carlos III, Barcelona. Electronic address:

View Article and Find Full Text PDF
September 2018

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).

Stem Cell Res 2017 12 14;25:1-5. Epub 2017 Sep 14.

Center of Regenerative Medicine in Barcelona (CMRB), Barcelona, Spain; Center for Networked Biomedical Research on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain. Electronic address:

View Article and Find Full Text PDF
December 2017

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).

Stem Cell Res 2017 12 9;25:291-295. Epub 2017 Sep 9.

Center of Regenerative Medicine in Barcelona (CMRB), Barcelona, Spain; Center for Networked Biomedical Research on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain. Electronic address:

View Article and Find Full Text PDF
December 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

View Article and Find Full Text PDF
October 2017

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

Nefrologia 2017 Jan - Feb;37(1):87-92. Epub 2016 Aug 29.

Enfermedades Renales Hereditarias, Servicio de Nefrología, Fundació Puigvert, Barcelona, España; Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, España; Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, España. Electronic address:

View Article and Find Full Text PDF
April 2018

Lanthanum carbonate for the control of hyperphosphatemia in chronic renal failure patients: a new oral powder formulation - safety, efficacy, and patient adherence.

Patient Prefer Adherence 2013 Nov 6;7:1147-56. Epub 2013 Nov 6.

Nephrology Department, Fundació Puigvert, IIB Sant Pau, Barcelona, Spain; REDinREN, Instituto de Investigación Carlos III, Madrid, Spain.

View Article and Find Full Text PDF
November 2013