(Q49398765)

20 February 2018

title

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. (English)

1 reference

20 February 2018

1

Asaf Vivante

1 reference

20 February 2018

author name string

Daw-Yang Hwang

2

1 reference

20 February 2018

Stefan Kohl

3

1 reference

20 February 2018

Jing Chen

4

1 reference

20 February 2018

Shirlee Shril

5

1 reference

20 February 2018

Julian Schulz

6

1 reference

20 February 2018

Amelie van der Ven

7

1 reference

20 February 2018

Ghaleb Daouk

8

1 reference

20 February 2018

Neveen A Soliman

9

1 reference

20 February 2018

Aravind Selvin Kumar

10

1 reference

20 February 2018

Prabha Senguttuvan

11

1 reference

20 February 2018

Elijah O Kehinde

12

1 reference

20 February 2018

Velibor Tasic

13

1 reference

20 February 2018

Friedhelm Hildebrandt

14

1 reference

20 February 2018

publication date

5 May 2016

1 reference

20 February 2018

Journal of the American Society of Nephrology

published in

1 reference

20 February 2018

volume

28

1 reference

20 February 2018

issue

1

1 reference

20 February 2018

page(s)

69-75

1 reference

20 February 2018

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Nephropathic cystinosis: an international consensus document

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Guidelines for investigating causality of sequence variants in human disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Aquaporin 2 promotes cell migration and epithelial morphogenesis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Mutations in HPSE2 cause urofacial syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

A systematic approach to mapping recessive disease genes in individuals from outbred populations

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Severe urinary concentrating defect in renal collecting duct-selective AQP2 conditional-knockout mice

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Nephropathic cystinosis in children: An overlooked disease.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Mouse model of inducible nephrogenic diabetes insipidus produced by floxed aquaporin-2 gene deletion

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5198271

Radiological findings in Wolfram syndrome

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27151922

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2015080962

1 reference

20 February 2018

PMC publication ID

5198271

1 reference

20 February 2018

PubMed ID

27151922

1 reference

20 February 2018