Gianluca Caridi

Gianluca Caridi

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Gianluca Caridi

Publications by authors named "Gianluca Caridi"

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A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.

Eur J Med Genet 2019 Feb 5;62(2):144-148. Epub 2018 Jul 5.

Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.001DOI Listing
February 2019

A novel splicing mutation in the ALB gene causing analbuminaemia in a Portuguese woman.

Pathology 2018 Oct 22;50(6):679-682. Epub 2018 Aug 22.

Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00313025183005
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http://dx.doi.org/10.1016/j.pathol.2018.03.015DOI Listing
October 2018

Molecular and Cellular Mechanisms for Proteinuria in Minimal Change Disease.

Front Med (Lausanne) 2018 11;5:170. Epub 2018 Jun 11.

Laboratory of Molecular Nephrology, Genoa, Italy.

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http://dx.doi.org/10.3389/fmed.2018.00170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004767PMC
June 2018

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Ann Intern Med 2018 01 5;168(2):100-109. Epub 2017 Dec 5.

From Columbia University, New York, New York; VU University Medical Center, Amsterdam, the Netherlands; Nephrology Associates, Newark, Delaware; Krysiewicza Children's Hospital, Poznań, Poland; Poznań University of Medical Sciences and Center for Medical Genetics GENESIS, Poznań, Poland; IRCCS Giannina Gaslini Children's Hospital, Genova, Italy; IRCCS San Raffaele Scientific Institute, Milan, Italy; New York University School of Medicine, New York, New York; University of Texas Southwestern Medical Center, Dallas, Texas; and French Institute of Health and Medical Research (INSERM) U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, and Necker Hospital, Paris, France.

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http://dx.doi.org/10.7326/M17-1319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947852PMC
January 2018

A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant.

Ann Clin Biochem 2016 Sep 5;53(Pt 5):615-9. Epub 2015 Nov 5.

Department of Molecular Medicine, University of Pavia, Pavia, Italy

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http://dx.doi.org/10.1177/0004563215618223DOI Listing
September 2016

Anti-CD20 Antibodies for Idiopathic Nephrotic Syndrome in Children.

Clin J Am Soc Nephrol 2016 Apr 19;11(4):710-20. Epub 2015 Nov 19.

Division of Nephrology, Dialysis, Transplantation and Laboratory on Pathophysiology of Uremia, Giannina Gaslini Children's Hospital, Genoa, Italy

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http://dx.doi.org/10.2215/CJN.08500815DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822672PMC
April 2016

Urine proteome analysis in Dent's disease shows high selective changes potentially involved in chronic renal damage.

J Proteomics 2016 Jan 11;130:26-32. Epub 2015 Sep 11.

Nephrology, Dialysis and Transplantation Unit, Istituto Giannina Gaslini, Genova, Italy; Laboratory on Physiopathology of Uremia, Istituto Giannina Gaslini, Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jprot.2015.08.024DOI Listing
January 2016

Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene.

Int J Mol Sci 2011 25;12(11):7314-22. Epub 2011 Oct 25.

Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova 16148, Italy; E-Mails: (M.D.); (G.C.).

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http://dx.doi.org/10.3390/ijms12117314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3233406PMC
December 2014

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nat Genet 2014 Nov 12;46(11):1187-96. Epub 2014 Oct 12.

Division of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1038/ng.3118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213311PMC
November 2014

The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia.

Kidney Int 2014 Oct;86(4):863-4

Division of Nephrology, Department of Medical and Surgical Specialties, Radiological Sciences, University of Brescia and Montichiari Hospital, Brescia, Italy.

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http://dx.doi.org/10.1038/ki.2013.445DOI Listing
October 2014

mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.

Saudi J Kidney Dis Transpl 2014 Jul;25(4):854-7

Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics, University of Padua, Padua, Italy.

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July 2014

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.

Eur J Med Genet 2014 Jan 17;57(1):44-6. Epub 2013 Dec 17.

Laboratorio di Citogenetica, Istituto Giannina Gaslini, Largo G. Gaslini 5, I-16148 Genova, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212130025
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http://dx.doi.org/10.1016/j.ejmg.2013.12.001DOI Listing
January 2014

Congenital analbuminaemia: molecular defects and biochemical and clinical aspects.

Biochim Biophys Acta 2013 Dec 21;1830(12):5494-502. Epub 2013 Apr 21.

Department of Molecular Medicine, University of Pavia, I-27100 Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2013.04.019DOI Listing
December 2013

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.

Mol Cytogenet 2013 Nov 26;6(1):52. Epub 2013 Nov 26.

Laboratorio di Citogenetica, Istituto G, Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1186/1755-8166-6-52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906914PMC
November 2013

Mutations in DSTYK and dominant urinary tract malformations.

N Engl J Med 2013 Aug 17;369(7):621-9. Epub 2013 Jul 17.

Divisions of Nephrology (S.S.-C., R.V.S., N.P., K.E.B., S.N.N., B.J.P., P.L.W., M.V., F.L., R.S., N.P., N.K., K.K., Q.A.-A., A.G.G.) and Pediatric Nephrology (P.L.W.) and the Department of Pathology (V.D.D.), Columbia University, and the Department of Medicine, St. Luke's-Roosevelt Hospital Center (S.S.-C.), New York; the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (M.C., M.S., R.P.L.); the Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea (M.C.); the Division of Nephrology, Dialysis, and Transplantation (M.B., F.L., G.C., A.C., M.D., C.M., G.P., G.M.G.) and Laboratory of Molecular Genetics (G.S., R.R.), Istituto Giannina Gaslini, the Division of Nephrology, Department of Internal Medicine (M.B.), and Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno Infantili (R.R.), University of Genoa, and IRCCS San Martino-IST (M.B.), Genoa; Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia (C.I., F.S.); the Department of Clinical Medicine, Nephrology, and Health Sciences, Unit of Nephrology, University of Parma, Parma (B.B., S.G., L.A.); the Department of Medical and Surgical Sciences, University of Foggia, Foggia (M.G.); the Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.); and the Division of Nephrology and Dialysis, Hospital of Alghero, Alghero (D.C.) - all in Italy; the Nephrology Division, Massachusetts General Hospital (Y.L., I.A.D.), and Department of Genetics, Harvard Medical School (I.A.D.), Charlestown, MA; University Children's Hospital, Medical School of Skopje, Skopje, Macedonia (V.J.L., N.R.-B., Z.G., V.T.); the Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland (A.M.-K., A.L.-B.); and the Department of Pediatrics, University Hospital of Split (D.K.V., M.S.), and the Department of Anatomy, Histology, and Embryology (K.V., M.S.-B.), School of Medicine (M.S.), University of Split, Split, Croatia.

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http://dx.doi.org/10.1056/NEJMoa1214479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846391PMC
August 2013

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.

Eur J Clin Invest 2013 Jan 26;43(1):72-8. Epub 2012 Nov 26.

Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genoa, Italy.

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http://dx.doi.org/10.1111/eci.12019DOI Listing
January 2013

A novel splicing mutation causes analbuminemia in a Portuguese boy.

Mol Genet Metab 2012 Mar 16;105(3):479-83. Epub 2011 Dec 16.

Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2011.12.009DOI Listing
March 2012

[TRPC6 mutations in children with steroid-resistant nephrotic syndrome].

G Ital Nefrol 2011 Jul-Aug;28(4):350-2

Dipartimento di Scienze Biomediche, Universita' degli Studi di Foggia, Foggia, Italy.

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November 2011

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Hum Mutat 2010 Dec 9;31(12):1352-9. Epub 2010 Nov 9.

Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/humu.21378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056145PMC
December 2010

A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman.

Clin Chim Acta 2010 Nov 16;411(21-22):1711-5. Epub 2010 Jul 16.

Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Largo G. Gaslini 5, 16148 Genova, Italy.

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http://dx.doi.org/10.1016/j.cca.2010.07.009DOI Listing
November 2010

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.

Clin J Am Soc Nephrol 2010 Apr 11;5(4):698-702. Epub 2010 Feb 11.

Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.

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http://cjasn.asnjournals.org/cgi/doi/10.2215/CJN.05670809
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http://dx.doi.org/10.2215/CJN.05670809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2849688PMC
April 2010

Familial forms of nephrotic syndrome.

Pediatr Nephrol 2010 Feb 9;25(2):241-52. Epub 2008 Dec 9.

Laboratory on Physiopathology of Uremia, G. Gaslini Children Hospital, Genoa, Italy.

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http://dx.doi.org/10.1007/s00467-008-1051-3DOI Listing
February 2010

Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait.

Pediatr Nephrol 2010 Feb 25;25(2):349-52. Epub 2009 Aug 25.

Pediatric Nephrology Department, Dr Sheikh Children's Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.

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http://dx.doi.org/10.1007/s00467-009-1293-8DOI Listing
February 2010

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

Kidney Int 2009 Sep 17;76(5):528-33. Epub 2009 Jun 17.

Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.

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http://dx.doi.org/10.1038/ki.2009.220DOI Listing
September 2009

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

Nephrol Dial Transplant 2009 Jun 7;24(6):1858-64. Epub 2009 Jan 7.

Department of Biomedical Sciences, University of Foggia, Genoa, Italy.

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http://dx.doi.org/10.1093/ndt/gfn712DOI Listing
June 2009

Immature renal structures associated with a novel UMOD sequence variant.

Am J Kidney Dis 2009 Feb 31;53(2):327-31. Epub 2008 Oct 31.

Pediatric Nephrology, Dialysis, and Transplantation Unit, Department of Pediatrics, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1053/j.ajkd.2008.08.020DOI Listing
February 2009

Recurrent lymphomatoid papulosis associated with nephrotic syndrome. An occurrence of uncertain origin.

Pediatr Nephrol 2009 Jan 20;24(1):189-92. Epub 2007 Nov 20.

Laboratory on Pathophysiology of Uremia, G. Gaslini Children Hospital, Largo G. Gaslini 5, 16148, Genova, Italy.

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http://dx.doi.org/10.1007/s00467-007-0667-zDOI Listing
January 2009

Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT).

Clin Chim Acta 2008 Oct 12;396(1-2):89-92. Epub 2008 Jun 12.

Department of Biochemistry A.Castellani, University of Pavia, viale Taramelli 3B, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.cca.2008.06.008DOI Listing
October 2008

Collapsing glomerulopathy associated with inherited mitochondrial injury.

Kidney Int 2008 Jul 30;74(2):237-43. Epub 2008 Jan 30.

Department of Pathology and Medicine, School of Medicine, New York University, New York, New York 10016, USA.

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http://dx.doi.org/10.1038/sj.ki.5002767DOI Listing
July 2008

Glomerulocystic kidney disease in hypomelanosis of Ito.

Pediatr Nephrol 2008 Jul 5;23(7):1183-7. Epub 2008 Apr 5.

Department of Nephrology & Urology, Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital and Research Institute, Piazza S Onofrio 4, Rome, Italy.

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http://dx.doi.org/10.1007/s00467-008-0797-yDOI Listing
July 2008

Association of the macrophage migration inhibitory factor -173*C allele with childhood nephrotic syndrome.

Pediatr Nephrol 2008 May 29;23(5):743-8. Epub 2008 Jan 29.

Unità Operativa di Nefrologia e Dialisi, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://link.springer.com/10.1007/s00467-007-0729-2
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http://dx.doi.org/10.1007/s00467-007-0729-2DOI Listing
May 2008

Analbuminemia Zonguldak: case report and mutational analysis.

Clin Biochem 2008 Mar 5;41(4-5):288-91. Epub 2007 Dec 5.

Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Largo G Gaslini, 5, Genova, Italy.

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http://dx.doi.org/10.1016/j.clinbiochem.2007.11.016DOI Listing
March 2008

Teaching molecular genetics: chapter 4-positional cloning of genetic disorders.

Pediatr Nephrol 2007 Dec 28;22(12):2023-9. Epub 2007 Jul 28.

Laboratory of Molecular Genetics, Istituto G. Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s00467-007-0548-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908434PMC
December 2007

Genetic approaches to human renal agenesis/hypoplasia and dysplasia.

Pediatr Nephrol 2007 Oct 17;22(10):1675-84. Epub 2007 Apr 17.

Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, New York, NY, USA.

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http://dx.doi.org/10.1007/s00467-007-0479-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1994209PMC
October 2007

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.

J Am Soc Nephrol 2007 Oct 12;18(10):2773-80. Epub 2007 Sep 12.

Divisions of Pathology , Department of Laboratory Medicine, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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http://dx.doi.org/10.1681/ASN.2006080833DOI Listing
October 2007

Analbuminemia produced by a novel splicing mutation.

Clin Chem 2007 Aug;53(8):1549-52

Department of Biochemistry, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1373/clinchem.2007.089748DOI Listing
August 2007

Active focal segmental glomerulosclerosis is associated with massive oxidation of plasma albumin.

J Am Soc Nephrol 2007 Mar 7;18(3):799-810. Epub 2007 Feb 7.

Laboratory on Pathophysiology of Uremia, G. Gaslini Children Hospital, Largo G. Gaslini, 5. 16148 Genova, Italy.

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http://dx.doi.org/10.1681/ASN.2006090965DOI Listing
March 2007

Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.

Nephrol Dial Transplant 2006 Aug 8;21(8):2301-3. Epub 2006 Jun 8.

Laboratory on Pathophysiology of Uremia, G. Gaslini Children Hospital, Largo G. Gaslini 5, 16148 Genova, Italy.

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http://dx.doi.org/10.1093/ndt/gfl277DOI Listing
August 2006

Direct effect of plasma permeability factors from patients with idiopatic FSGS on nephrin and podocin expression in human podocytes.

Int J Mol Med 2005 Jul;16(1):49-58

Center of Experimental Research and Medical Sciences, Department of Internal Medicine, University of Turin, Turin, Italy.

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July 2005

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds.

J Am Soc Nephrol 2005 Jun 13;16(6):1781-7. Epub 2005 Apr 13.

Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, 630 W 168th Street, P&S 10-432 New York, NY 10032, USA.

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http://dx.doi.org/10.1681/ASN.2004121034DOI Listing
June 2005

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.

Pediatr Res 2005 May 6;57(5 Pt 2):54R-61R. Epub 2005 Apr 6.

Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1203/01.PDR.0000160446.01907.B1DOI Listing
May 2005

Uromodulin storage diseases: clinical aspects and mechanisms.

Am J Kidney Dis 2004 Dec;44(6):987-99

Divisione di Nefrologia, Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1053/j.ajkd.2004.08.021DOI Listing
December 2004

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.

Am J Kidney Dis 2004 Apr;43(4):727-32

Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1053/j.ajkd.2003.12.034DOI Listing
April 2004

The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancer.

Gene Expr 2003 ;11(2):95-104

Laboratory of Molecular Genetics, G. Gaslini Institute, Largo G. Gaslini 5, 16148 Genova, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991144PMC
February 2004

Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease.

J Nephrol 2003 May-Jun;16(3):321-8

Division and Chair of Nephrology, Spedali Civili, Brescia, Italy.

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July 2003

Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure.

Pediatr Nephrol 2003 Mar 21;18(3):225-9. Epub 2003 Feb 21.

Unità Operativa di Nefrologia, Istituto G. Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s00467-002-1058-0DOI Listing
March 2003

Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome).

Am J Kidney Dis 2003 Jan;41(1):95-104

Laboratory on Pathophysiology of Uremia and Laboratory of Molecular Genetics, Istituto di Ricerca e Cura a Carattere Scientifico G. Gaslini, Genova, Italy.

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http://dx.doi.org/10.1053/ajkd.2003.50028DOI Listing
January 2003

Glomerulocystic kidney disease in a family.

Nephrol Dial Transplant 2002 May;17(5):813-8

Nephrology Department, G. Gaslini Children's Hospital, Genoa, Italy.

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http://ndt.oxfordjournals.org/content/17/5/813.full.pdf
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http://dx.doi.org/10.1093/ndt/17.5.813DOI Listing
May 2002