Genetic approaches to human renal agenesis/hypoplasia and dysplasia (Q36013624)

11 August 2017

2 references

9 October 2019

18 November 2020

Genetic approaches to human renal agenesis/hypoplasia and dysplasia. (English)

1 reference

11 August 2017

1 reference

9 October 2019

1 reference

18 November 2020

2

Gianluca Caridi

1 reference

11 August 2017

Gian Marco Ghiggeri

7

0 references

Ali G Gharavi

series ordinal

6

object named as

Ali G Gharavi

1 reference

11 August 2017

4

Francesco Scolari

1 reference

11 August 2017

5

Francesco Perfumo

1 reference

11 August 2017

1

Simone Sanna-Cherchi

1 reference

11 August 2017

3

Patricia L Weng

1 reference

11 August 2017

17 April 2007

1 reference

PMCID

1994209

11 August 2017

1 October 2007

2 references

9 October 2019

18 November 2020

3 references

11 August 2017

9 October 2019

18 November 2020

22

1 reference

11 August 2017

1675-1684

1 reference

11 August 2017

10

1 reference

Creative Commons Attribution

11 August 2017

1 reference

18 November 2020

0 references

https://scigraph.springernature.com/pub.10.1007/s00467-007-0479-1

0 references

cites work

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

1 reference

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Six2 is required for suppression of nephrogenesis and progenitor renewal in the developing kidney

2 October 2017

1 reference

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Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

2 October 2017

1 reference

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

2 October 2017

1 reference

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

2 October 2017

1 reference

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

2 October 2017

1 reference

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Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans

2 October 2017

1 reference

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Role of fibroblast growth factor receptors 1 and 2 in the metanephric mesenchyme

2 October 2017

1 reference

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GDNF/Ret signaling and the development of the kidney

2 October 2017

1 reference

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Structural variation in the human genome

2 October 2017

1 reference

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Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes

2 October 2017

1 reference

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Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

2 October 2017

1 reference

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Inactivation of FGF8 in early mesoderm reveals an essential role in kidney development

2 October 2017

1 reference

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Distinct and sequential tissue-specific activities of the LIM-class homeobox gene Lim1 for tubular morphogenesis during kidney development

2 October 2017

1 reference

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A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

2 October 2017

1 reference

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Genetics. Was the Human Genome Project worth the effort?

2 October 2017

1 reference

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Complement factor H polymorphism in age-related macular degeneration

2 October 2017

1 reference

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Genome-wide association studies for common diseases and complex traits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

The International HapMap Project

2 October 2017

1 reference

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Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Wnt11 and Ret/Gdnf pathways cooperate in regulating ureteric branching during metanephric kidney development.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Six1 is required for the early organogenesis of mammalian kidney

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Pbx1 regulates nephrogenesis and ureteric branching in the developing kidney

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Coordinating early kidney development: lessons from gene targeting

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Accessing genetic variation: genotyping single nucleotide polymorphisms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Association study designs for complex diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Use of population isolates for mapping complex traits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

A molecular and genetic view of human renal and urinary tract malformations.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Bone morphogenetic protein 4 regulates the budding site and elongation of the mouse ureter

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Dual origins of Finns revealed by Y chromosome haplotype variation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Defects of urogenital development in mice lacking Emx2.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Essential role of stromal mesenchyme in kidney morphogenesis revealed by targeted disruption of Winged Helix transcription factor BF-2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Renal and neuronal abnormalities in mice lacking GDNF

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Defects in enteric innervation and kidney development in mice lacking GDNF

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Renal agenesis and the absence of enteric neurons in mice lacking GDNF

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Pax-2 controls multiple steps of urogenital development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

WT-1 is required for early kidney development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Requirement for Lim1 in head-organizer function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

A family study of renal agenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

A locus for renal malformations including vesico-ureteric reflux on chromosome 13q33-34.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Uroplakin III is not a major candidate gene for primary vesicoureteral reflux.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Steroid-resistant nephrotic syndrome and congenital anomalies of kidneys: evidence of locus on chromosome 13q.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Human Gene Mutation Database (HGMD): 2003 update.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Candidate-gene approaches for studying complex genetic traits: practical considerations

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Dominantly inherited renal adysplasia

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred

21 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Association Analysis of 6,736 U.K. Subjects Provides Replication and ConfirmsTCF7L2as a Type 2 Diabetes Susceptibility Gene With a Substantial Effect on Individual Risk

5 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

5 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994209

Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men

5 December 2018

1 reference

12 December 2020

De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure

1 reference

12 December 2020

Renal hypoplasia and dysplasia: starting to put the puzzle together

1 reference

12 December 2020

Variation is the spice of life

1 reference

12 December 2020

Familial nature of congenital absence and severe dysgenesis of both kidneys

1 reference

12 December 2020

Surveillance for and comparison of birth defect prevalences in two geographic areas--United States, 1983-88

1 reference

12 December 2020

10.1007/S00467-007-0479-1

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

1 reference

PMCID

1994209