(Q36980350)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23539225%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes (English)

1 reference

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27 February 2020

1

1 reference

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27 February 2020

Vincent Morinière

2

1 reference

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27 February 2020

Cécile Jeanpierre

3

1 reference

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27 February 2020

Uffe Birk Jensen

10

1 reference

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27 February 2020

Tania Attié-Bitach

14

1 reference

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27 February 2020

Marie-Claire Gubler

16

1 reference

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27 February 2020

Corinne Antignac

17

1 reference

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27 February 2020

Laurence Heidet

18

1 reference

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27 February 2020

Christel Thauvin-Robinet

9

object named as

Christel Thauvin-Robinet

1 reference

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27 February 2020

author name string

Raymonde Bouvier

4

1 reference

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27 February 2020

Philippe Loget

5

1 reference

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27 February 2020

Jelena Martinovic

6

1 reference

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27 February 2020

Pierre Dechelotte

7

1 reference

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27 February 2020

Nathalie Leporrier

8

1 reference

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27 February 2020

Dominique Gaillard

11

1 reference

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27 February 2020

Michele Mathieu

12

1 reference

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27 February 2020

Bruno Turlin

13

1 reference

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27 February 2020

Rémi Salomon

15

1 reference

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27 February 2020

publication date

28 March 2013

1 reference

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Clinical Journal of the American Society of Nephrology

27 February 2020

published in

1 reference

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27 February 2020

volume

8

1 reference

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27 February 2020

issue

7

1 reference

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27 February 2020

page(s)

1179-1187

1 reference

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Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

27 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Antenatal ultrasound to predict postnatal renal function in congenital lower urinary tract obstruction: systematic review of test accuracy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Chronic renal insufficiency in children: the 2001 Annual Report of the NAPRTCS.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Fetal serum ss2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

PAX2mutations in fetal renal hypodysplasia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700697

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

4 December 2018

1 reference

12 December 2020

Mass screening for fetal malformations: the Eurofetus study

1 reference

12 December 2020

Predictive value of fetal serum beta 2-microglobulin for neonatal renal function

1 reference

12 December 2020

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

1 reference

12 December 2020

Identifiers

DOI

10.2215/CJN.10221012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23539225%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23539225%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference