(Q35019826)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

review article

1 reference

title

Transient neonatal diabetes, a disorder of imprinting (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

author name string

J P H Shield

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

language of work or name

English

0 references

publication date

1 December 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

15 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

volume

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

page(s)

872-875

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus

15 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=1757233

Origin of uniparental disomy 6: presentation of a new case and review on the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Induction of the PAC1-R (PACAP-type I receptor) gene by p53 and Zac.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Aetiopathology and genetic basis of neonatal diabetes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Transient neonatal diabetes and later onset diabetes: a case of inherited insulin resistance

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Long-term course of neonatal diabetes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Transient neonatal diabetes mellitus in sibs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Neonatal diabetes mellitus due to complete glucokinase deficiency

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Refinement of the 6q chromosomal region implicated in transient neonatal diabetes

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

Is transient neonatal diabetes a risk factor for diabetes in later life?

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757233

An imprinted gene(s) for diabetes?

25 October 2018

1 reference

12 December 2020

A search for uniparental disomy in carriers of supernumerary marker chromosomes

1 reference

12 December 2020

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

1 reference

12 December 2020

Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus

1 reference

12 December 2020

Congenital Temporary Diabetes Mellitus

1 reference

12 December 2020

Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus

1 reference

12 December 2020

Observations�Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus

1 reference

12 December 2020

Genome-Wide Linkage Analysis Assessing Parent-of-Origin Effects in the Inheritance of Type 2 Diabetes and BMI in Pima Indians

1 reference

12 December 2020

Transient Neonatal Diabetes Mellitus in Half Sisters

1 reference

12 December 2020

Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia

1 reference

12 December 2020

Permanent non-insulin dependent diabetes mellitus after congenital transient neonatal diabetes

1 reference

12 December 2020

Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6

1 reference

12 December 2020

An imprinted locus associated with transient neonatal diabetes mellitus

1 reference

12 December 2020

Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6

1 reference

12 December 2020

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes

1 reference

12 December 2020

Distinct neurological syndrome in two brothers with hyperuricaemia

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.39.12.872

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471198%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

PubMed publication ID

12471198

1 reference