A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. (Q37259295)

19 August 2017

A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. (English)

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19 August 2017

vesicoureteral reflux

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Joseph H Lee

14

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Gianluca Caridi

object named as

Gianluca Caridi

6

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Gian Marco Ghiggeri

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Gian Marco Ghiggeri

17

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Ali G Gharavi

19

object named as

Ali G Gharavi

1 reference

19 August 2017

16

Francesco Scolari

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19 August 2017

15

Roberto Ravazzolo

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19 August 2017

2

Simone Sanna-Cherchi

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19 August 2017

1

Patricia L Weng

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19 August 2017

8

Anita Konka

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19 August 2017

3

Terry Hensle

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19 August 2017

9

Adam C Reese

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19 August 2017

Ellen Shapiro

4

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19 August 2017

Alan Werzberger

5

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19 August 2017

Claudia Izzi

7

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19 August 2017

Rong Cheng

10

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19 August 2017

Samuel Werzberger

11

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19 August 2017

Richard N Schlussel

12

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19 August 2017

Robert D Burk

13

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19 August 2017

Kenneth Glassberg

18

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19 August 2017

14 May 2009

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Journal of the American Society of Nephrology

19 August 2017

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19 August 2017

20

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19 August 2017

7

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19 August 2017

1633-1640

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Identifying autism loci and genes by tracing recent shared ancestry

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

ROBO2 gene variants are associated with familial vesicoureteral reflux

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

A genome-wide scan for genes involved in primary vesicoureteric reflux.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Complement factor H polymorphism in age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Complement factor H polymorphism and age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Complement factor H variant increases the risk of age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Comparison of microsatellites versus single-nucleotide polymorphisms in a genome linkage screen for prostate cancer-susceptibility Loci

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Identification of a prostate cancer susceptibility locus on chromosome 7q11-21 in Jewish families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Magnitude of type I error when single-locus linkage analysis is maximized over models: a simulation study.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Faster sequential genetic linkage computations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Vesicoureteric reflux and renal scars in asymptomatic siblings of children with reflux

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

The transmission of vesicoureteral reflux from parent to child

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Inter- and intrafamilial heterogeneity: effective sampling strategies and comparison of analysis methods

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

A family study of vesicoureteric reflux

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Vesico-ureteral reflux: a genetic condition?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Linkage analysis under "random" and "genetic" reduced penetrance

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Familial primary vesicoureteral reflux

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Familial occurrence of nonobstructive, noninfectious vesicoureteral reflux with renal scarring

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Prenatally detected ureteropelvic junction obstruction: clinical features and associated urologic abnormalities.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Contributions of the Transplant Registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

A genetic profile of contemporary Jewish populations

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Direct power comparisons between simple LOD scores and NPL scores for linkage analysis in complex diseases

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Screening of newborn babies for familial ureteric reflux.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709685

Vesicoureteric reflux: segregation analysis

3 September 2018

1 reference

12 December 2020

Linkage analysis assuming a single-locus mode of inheritance for traits determined by two loci: inferring mode of inheritance and estimating penetrance

1 reference

12 December 2020

The long-term results of prospective sibling reflux screening

1 reference

12 December 2020

Renal hypoplasia and postnatally acquired cortical loss in children with vesicoureteral reflux

1 reference

12 December 2020

HEREDITARY VESICOURETERAL REFLUX

1 reference

12 December 2020

Type 2 diabetes susceptibility loci in the Ashkenazi Jewish population

1 reference

12 December 2020

Sibling vesicoureteral reflux in multiple gestation births

1 reference

12 December 2020

Mass screening for early detection of congenital kidney and urinary tract abnormalities in infancy

1 reference

12 December 2020

Identifiers

DOI

10.1681/ASN.2008111199

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

19443636

1 reference