(Q35677743)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Marco Seri

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Kai Schmidt-Ott

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Gian Marco Ghiggeri

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

17

Ali G Gharavi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

8

Alba Carrea

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

14

Francesco Scolari

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

11

Landino Allegri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

13

Jonathan Barasch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

4

Monica Dagnino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

15

Roberto Ravazzolo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1

Simone Sanna-Cherchi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

3

Patricia L Weng

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

6

Anita Konka

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

7

Danio Somenzi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Claudia Izzi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Domenica Casu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

26 January 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

25 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

539-549

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

Major congenital malformations after first-trimester exposure to ACE inhibitors

25 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Spatial gene expression in the T-stage mouse metanephros

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Novel regulators of kidney development from the tips of the ureteric bud.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Recent genetic studies of mouse kidney development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Evolving concepts in human renal dysplasia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Glomerular number and size in autopsy kidneys: the relationship to birth weight

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Epidemiology of chronic renal failure in children: data from the ItalKid project

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Evidence that bone morphogenetic protein 4 has multiple biological functions during kidney and urinary tract development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Nephron number in patients with primary hypertension

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Allegro, a new computer program for multipoint linkage analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Minimal phenotype of mice homozygous for a null mutation in the forkhead/winged helix gene, Mf2.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Identification of the gene responsible for gelatinous drop-like corneal dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

GDNF signalling through the Ret receptor tyrosine kinase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Pax-2 controls multiple steps of urogenital development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Faster sequential genetic linkage computations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Congenital oligonephropathy and the etiology of adult hypertension and progressive renal injury

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Kidney size in childhood. Sonographical growth charts for kidney length and volume

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Computer-simulation methods in human linkage analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Renal agenesis and dysgenesis: are they increasing?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Duplex Kidneys: A Correlation of Renal Dysplasia with Position of the Ureteral Orifice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

A family study of renal agenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Hypertension, glomerular number, and birth weight in African Americans and white subjects in the southeastern United States.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Endocytic delivery of lipocalin-siderophore-iron complex rescues the kidney from ischemia-reperfusion injury

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Coordinating early kidney development: lessons from gene targeting

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Congenital renal agenesis: case-control analysis of birth characteristics

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Distribution of the admixture test for the detection of linkage under heterogeneity.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Dominantly inherited renal adysplasia

23 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821099

Dissecting stages of mesenchymal-to-epithelial conversion during kidney development

23 October 2018

1 reference

12 December 2020

Familial nature of congenital absence and severe dysgenesis of both kidneys

1 reference

12 December 2020

Sonographic measurements and appearance of normal kidneys in children

1 reference

12 December 2020

Prenatal diagnosis of urinary tract abnormalities by ultrasound

1 reference

12 December 2020

A null mutation at the c-jun locus causes embryonic lethality and retarded cell growth in culture

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 aplasia is the predominant cause of congenital solitary kidneys

1 reference

12 December 2020

Identifiers

DOI

10.1086/512248

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273976%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

PubMed publication ID

17273976

1 reference