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Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment

Ultrasound in obstetrics & gynecology, 2022-04, Vol.59 (4), p.513-521

2022

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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Nature genetics, 2000-04, Vol.24 (4), p.349-354

2000

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Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation

Cell, 2001-08, Vol.106 (3), p.319-329

2001

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A missense mutation in podocin leads to early and severe renal disease in mice

Kidney international, 2008-05, Vol.73 (9), p.1038-1047

2008

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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

Journal of medical genetics, 2005-04, Vol.42 (4), p.336-349

2005

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Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Mutation Database

American journal of human genetics, 1998-04, Vol.62 (4), p.824-833

1998

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Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Nature genetics, 1997-12, Vol.17 (4), p.467-470

1997

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Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?

BJOG : an international journal of obstetrics and gynaecology, 2002-12, Vol.109 (12), p.1388-1393

2002

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Meckel–Grüber syndrome: sonography and pathology

Ultrasound in obstetrics & gynecology, 2006-03, Vol.27 (3), p.296-300

2006

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A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis

Human molecular genetics, 1997-12, Vol.6 (13), p.2317-2323

1997

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Twin-to-Twin Transfusion Syndrome : Role of the Fetal Renin-Angiotensin System

The American journal of pathology, 2000-02, Vol.156 (2), p.629-636

2000

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Renal phenotype of the cystinosis mouse model is dependent upon genetic background

Nephrology, dialysis, transplantation, 2010-04, Vol.25 (4), p.1059-1066

2010

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Very Early Twin-to-Twin Transfusion Syndrome and Discordant Activation of the Renin–Angiotensin System

Placenta (Eastbourne), 2009-08, Vol.30 (8), p.731-734

2009

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Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis

Human molecular genetics, 1995-11, Vol.4 (11), p.2155-2158

1995

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Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis

Human molecular genetics, 1996-03, Vol.5 (3), p.367-371

1996

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Recurrence of nephrotic syndrome after transplantation in a mixed population of children and adults: course of glomerular lesions and value of the Columbia classification of histological variants of focal and segmental glomerulosclerosis (FSGS)

Nephrology, dialysis, transplantation, 2010-04, Vol.25 (4), p.1321-1328

2010

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Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

Journal of medical genetics, 2010-07, Vol.47 (7), p.445-452

2010

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PAX2 mutations in oligomeganephronia

Kidney international, 2001-02, Vol.59 (2), p.457-462

2001

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Determination of the Genomic Structure of the COL4A4 Gene and of Novel Mutations Causing Autosomal Recessive Alport Syndrome

American journal of human genetics, 1998-11, Vol.63 (5), p.1329-1340

1998

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Early Glomerular Filtration Defect and Severe Renal Disease in Podocin-Deficient Mice

Molecular and Cellular Biology, 2004-01, Vol.24 (2), p.550-560

2004

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Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome

American journal of human genetics, 1996-12, Vol.59 (6), p.1221-1232

1996

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Glomerular Expression of Type IV Collagen Chains in Normal and X-Linked Alport Syndrome Kidneys

The American journal of pathology, 2000-06, Vol.156 (6), p.1901-1910

2000

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WT1 and PAX-2 Podocyte Expression in Denys-Drash Syndrome and Isolated Diffuse Mesangial Sclerosis

The American journal of pathology, 1999, Vol.154 (1), p.181-192

1999

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Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

Kidney international, 1995-04, Vol.47 (4), p.1142-1147

1995

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WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis

Kidney international, 2000-05, Vol.57 (5), p.1868-1872

2000

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Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation

A missense mutation in podocin leads to early and severe renal disease in mice

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Mutation Database

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?

Meckel–Grüber syndrome: sonography and pathology

A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis

Twin-to-Twin Transfusion Syndrome : Role of the Fetal Renin-Angiotensin System

Renal phenotype of the cystinosis mouse model is dependent upon genetic background

Very Early Twin-to-Twin Transfusion Syndrome and Discordant Activation of the Renin–Angiotensin System

Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis

Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis

Recurrence of nephrotic syndrome after transplantation in a mixed population of children and adults: course of glomerular lesions and value of the Columbia classification of histological variants of focal and segmental glomerulosclerosis (FSGS)

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

PAX2 mutations in oligomeganephronia

Determination of the Genomic Structure of the COL4A4 Gene and of Novel Mutations Causing Autosomal Recessive Alport Syndrome

Early Glomerular Filtration Defect and Severe Renal Disease in Podocin-Deficient Mice

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome

Glomerular Expression of Type IV Collagen Chains in Normal and X-Linked Alport Syndrome Kidneys

WT1 and PAX-2 Podocyte Expression in Denys-Drash Syndrome and Isolated Diffuse Mesangial Sclerosis

Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis

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