Lista de obras - Koichi Nakanishi - Dominio Público Uruguay

A birth of bipartite exon by intragenic deletion

artículo científico publicado en 2017

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

scientific article published on 16 April 2020

A novel nonsense mutation in a patient with intractable epilepsy and cardiac malformation

artículo científico publicado en 2019

A review of clinical characteristics and genetic backgrounds in Alport syndrome.

artículo científico publicado en 2018

Aberrant Smad3 phosphoisoforms in cyst-lining epithelial cells in the cpk mouse, a model of autosomal recessive polycystic kidney disease

artículo científico publicado en 2017

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

artículo científico publicado en 2018

Alport-like glomerular basement membrane changes with renal-coloboma syndrome ⬇️

artículo científico publicado el 21 de febrero de 2012

Association between low birth weight and childhood-onset chronic kidney disease in Japan: a combined analysis of a nationwide survey for paediatric chronic kidney disease and the National Vital Statistics Report

artículo científico publicado en 2015

Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency

artículo científico publicado en 2014

Biopsy timing and Oxford classification variables in childhood/adolescent IgA nephropathy

scientific article published on 07 June 2014

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

artículo científico publicado en 2017

Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013: medical therapy.

artículo científico publicado en 2015

Clinical spectrum of male patients with OFD1 mutations

article

Clinicopathological significance of glomerular capillary IgA deposition in childhood IgA nephropathy

scientific article published on 04 October 2020

Combination therapy with or without warfarin and dipyridamole for severe childhood IgA nephropathy: an RCT

artículo científico publicado en 2018

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

artículo científico publicado en 2019

Congenital nephrotic syndrome with a novel NPHS1 mutation.

artículo científico publicado en 2016

Crescentic IgA nephropathy in a child: Effect of a new combination therapy

artículo científico publicado en 2017

Crescentic IgA nephropathy in children

artículo científico publicado en 2020

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.

artículo científico publicado en 2018

Early parenteral nutrition in neonates with congenital diaphragmatic hernia

scientific article published on 01 February 2020

Epithelial-to-mesenchymal transition in cyst lining epithelial cells in an orthologous PCK rat model of autosomal-recessive polycystic kidney disease ⬇️

artículo científico publicado el 17 de noviembre de 2010

Erratum to: Evidence-based clinical practice guidelines for polycystic kidney disease 2014

artículo científico publicado en 2016

Evidence-based clinical practice guidelines for polycystic kidney disease 2014

artículo científico publicado en 2016

Focal Segmental Glomerulosclerosis in Patients With Complete Deletion of One WT1 Allele ⬇️

artículo científico publicado el 14 de mayo de 2012

Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT) ⬇️

artículo científico publicado el 1 de octubre de 2003

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

artículo científico publicado en 2016

High incidence of idiopathic nephrotic syndrome in East Asian children: a nationwide survey in Japan (JP-SHINE study).

artículo científico publicado en 2016

Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.

artículo científico publicado en 2016

IgA nephropathy with presentation of nephrotic syndrome at onset in children

artículo científico publicado en 2016

Insignificant impact of VUR on the progression of CKD in children with CAKUT.

artículo científico publicado en 2015

Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study

artículo científico publicado en 2017

Lisinopril versus lisinopril and losartan for mild childhood IgA nephropathy: a randomized controlled trial (JSKDC01 study)

artículo científico publicado en 2018

Long-term outcome of childhood-onset complicated nephrotic syndrome after a multicenter, double-blind, randomized, placebo-controlled trial of rituximab.

artículo científico publicado en 2017

Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan

artículo científico publicado en 2017

Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.

artículo científico publicado en 2017

Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain

artículo científico publicado en 2013

Molecular mechanisms determining severity in patients with Pierson syndrome

scientific article published on 21 January 2020

Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.

artículo científico publicado en 2017

Nephrotic-range proteinuria in an infant with thin basement membrane nephropathy.

artículo científico publicado en 2013

Organoids from Nephrotic Disease-Derived iPSCs Identify Impaired NEPHRIN Localization and Slit Diaphragm Formation in Kidney Podocytes

artículo científico publicado en 2018

Recurrent EIARF and PRES With Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation ⬇️

artículo científico publicado el 2 de mayo de 2011

Renal biopsy criterion in children with asymptomatic constant isolated proteinuria ⬇️

artículo científico publicado el 9 de enero de 2012

Study protocol: high-dose mizoribine with prednisolone therapy in short-term relapsing steroid-sensitive nephrotic syndrome to prevent frequent relapse (JSKDC05 trial)

article

Study protocol: mycophenolate mofetil as maintenance therapy after rituximab treatment for childhood-onset, complicated, frequently-relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicenter double-blind, randomized, placebo-

article

The Pharmacological Characteristics of Molecular-Based Inherited Salt-Losing Tubulopathies ⬇️

artículo científico publicado el 1 de septiembre de 2010

The relationship between arginine vasopressin levels and hyponatremia following a percutaneous renal biopsy in children receiving hypotonic or isotonic intravenous fluids ⬇️

artículo científico publicado el 16 de octubre de 2010

Treatment strategies for Henoch-Schönlein purpura nephritis by histological and clinical severity ⬇️

artículo científico publicado el 4 de enero de 2011

Two cases of atypical membranoproliferative glomerulonephritis showing opposite clinical course

artículo científico publicado en 2012

Validity of the Oxford classification of IgA nephropathy in children ⬇️

artículo científico publicado el 2 de diciembre de 2011

X-linked Alport syndrome caused by splicing mutations in COL4A5

artículo científico publicado en 2014

Lista de obras de Koichi Nakanishi

A birth of bipartite exon by intragenic deletion

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

A novel nonsense mutation in a patient with intractable epilepsy and cardiac malformation

A review of clinical characteristics and genetic backgrounds in Alport syndrome.

Aberrant Smad3 phosphoisoforms in cyst-lining epithelial cells in the cpk mouse, a model of autosomal recessive polycystic kidney disease

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

Alport-like glomerular basement membrane changes with renal-coloboma syndrome ⬇️

Association between low birth weight and childhood-onset chronic kidney disease in Japan: a combined analysis of a nationwide survey for paediatric chronic kidney disease and the National Vital Statistics Report

Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency

Biopsy timing and Oxford classification variables in childhood/adolescent IgA nephropathy

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013: medical therapy.

Clinical spectrum of male patients with OFD1 mutations

Clinicopathological significance of glomerular capillary IgA deposition in childhood IgA nephropathy

Combination therapy with or without warfarin and dipyridamole for severe childhood IgA nephropathy: an RCT

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

Congenital nephrotic syndrome with a novel NPHS1 mutation.

Crescentic IgA nephropathy in a child: Effect of a new combination therapy

Crescentic IgA nephropathy in children

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.

Early parenteral nutrition in neonates with congenital diaphragmatic hernia

Epithelial-to-mesenchymal transition in cyst lining epithelial cells in an orthologous PCK rat model of autosomal-recessive polycystic kidney disease ⬇️

Erratum to: Evidence-based clinical practice guidelines for polycystic kidney disease 2014

Evidence-based clinical practice guidelines for polycystic kidney disease 2014

Focal Segmental Glomerulosclerosis in Patients With Complete Deletion of One WT1 Allele ⬇️

Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT) ⬇️

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

High incidence of idiopathic nephrotic syndrome in East Asian children: a nationwide survey in Japan (JP-SHINE study).

Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.

IgA nephropathy with presentation of nephrotic syndrome at onset in children

Insignificant impact of VUR on the progression of CKD in children with CAKUT.

Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study

Lisinopril versus lisinopril and losartan for mild childhood IgA nephropathy: a randomized controlled trial (JSKDC01 study)

Long-term outcome of childhood-onset complicated nephrotic syndrome after a multicenter, double-blind, randomized, placebo-controlled trial of rituximab.

Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan

Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.

Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain

Molecular mechanisms determining severity in patients with Pierson syndrome

Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.

Nephrotic-range proteinuria in an infant with thin basement membrane nephropathy.

Organoids from Nephrotic Disease-Derived iPSCs Identify Impaired NEPHRIN Localization and Slit Diaphragm Formation in Kidney Podocytes

Recurrent EIARF and PRES With Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation ⬇️

Renal biopsy criterion in children with asymptomatic constant isolated proteinuria ⬇️

Study protocol: high-dose mizoribine with prednisolone therapy in short-term relapsing steroid-sensitive nephrotic syndrome to prevent frequent relapse (JSKDC05 trial)

Study protocol: mycophenolate mofetil as maintenance therapy after rituximab treatment for childhood-onset, complicated, frequently-relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicenter double-blind, randomized, placebo-

The Pharmacological Characteristics of Molecular-Based Inherited Salt-Losing Tubulopathies ⬇️

The relationship between arginine vasopressin levels and hyponatremia following a percutaneous renal biopsy in children receiving hypotonic or isotonic intravenous fluids ⬇️

Treatment strategies for Henoch-Schönlein purpura nephritis by histological and clinical severity ⬇️

Two cases of atypical membranoproliferative glomerulonephritis showing opposite clinical course

Validity of the Oxford classification of IgA nephropathy in children ⬇️

X-linked Alport syndrome caused by splicing mutations in COL4A5