(Q37412177)

20 August 2017

Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. (English)

1 reference

20 August 2017

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7

Heather M Highland

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20 August 2017

Jennifer P Concepcion

1

1 reference

20 August 2017

Christina S Reh

2

1 reference

20 August 2017

Mark Daniels

3

1 reference

20 August 2017

Xiaoming Liu

4

1 reference

20 August 2017

Veronica P Paz

5

1 reference

20 August 2017

Honggang Ye

6

1 reference

20 August 2017

Craig L Hanis

8

1 reference

20 August 2017

Siri Atma W Greeley

9

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20 August 2017

5 August 2013

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20 August 2017

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20 August 2017

15

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20 August 2017

1

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20 August 2017

67-72

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An integrative variant analysis suite for whole exome next-generation sequencing data

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

MutationTaster evaluates disease-causing potential of sequence alterations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Rfx6 directs islet formation and insulin production in mice and humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Identification of deleterious mutations within three human genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Identification and characterization of novel human tissue-specific RFX transcription factors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive 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=3871990

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Improved splice site detection in Genie

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Prediction of human mRNA donor and acceptor sites from the DNA sequence

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3871990

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FPEDI.12063

Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis

21 January 2018

1 reference

12 December 2020

Unusual case of neonatal diabetes mellitus due to congenital pancreas agenesis

1 reference

12 December 2020

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn

1 reference

12 December 2020

Transcribing neonatal diabetes mellitus

1 reference

12 December 2020

Identifiers

DOI

10.1111/PEDI.12063

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

23914949

1 reference