(Q43146929)

14 November 2017

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Congenital hyperinsulinism and mosaic abnormalities of the ploidy (English)

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14 November 2017

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4

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14 November 2017

2

Sanlaville D

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14 November 2017

Giurgea I

1

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14 November 2017

Fournet JC

3

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14 November 2017

Bellanné-Chantelot C

5

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14 November 2017

Touati G

6

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14 November 2017

Hubert L

7

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14 November 2017

Groos MS

8

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14 November 2017

Brunelle F

9

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14 November 2017

Rahier J

10

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14 November 2017

Henquin JC

11

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14 November 2017

Dunne MJ

12

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14 November 2017

Jaubert F

13

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14 November 2017

Robert JJ

14

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14 November 2017

Nihoul-Fékété C

15

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14 November 2017

Vekemans M

16

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14 November 2017

Junien C

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14 November 2017

de Lonlay P

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14 November 2017

language of work or name

English

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publication date

20 July 2005

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Journal of Medical Genetics

14 November 2017

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14 November 2017

43

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14 November 2017

3

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14 November 2017

248-254

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Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Three different origins for apparent triploid/diploid mosaics

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Postzygotic diploidization of triploids as a source of unusual cases of mosaicism, chimerism and twinning

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Foxa2 (HNF3beta ) controls multiple genes implicated in metabolism-secretion coupling of glucose-induced insulin release

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Practical management of hyperinsulinism in infancy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Perlman syndrome: four additional cases and review

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Clinical features of 52 neonates with hyperinsulinism.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Beckwith-Wiedemann syndrome: a quantitative, immunohistochemical study of pancreatic islet cell populations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Behavior of centrosomes during fertilization and cell division in mouse oocytes and in sea urchin eggs

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Centrioles in the beginning of human development

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

A diploid-triploid human mosaic with cytogenetic evidence of double fertilization

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Nesidioblastosis: The Pathologic Basis of Persistent Hyperinsulinemic Hypoglycemia in Infants: Morphologic and Quantitative Analysis of Seven Cases Based on Specific Immunostaining and Electron Microscopy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Familial hyperinsulinism caused by an activating glucokinase mutation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

Cytomegaly of pancreatic D cells in triploidy

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563246

An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13----pter.: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome

15 August 2018

1 reference

12 December 2020

Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Sperm penetration into immature mouse oocytes and nuclear changes during maturation: an EM study

1 reference

12 December 2020

Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient

1 reference

12 December 2020

Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role

1 reference

12 December 2020

Complete hydatidiform mole and normal live birth: a novel case of confined placental mosaicism: Case report

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.034116

1 reference

14 November 2017

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14 November 2017

PubMed publication ID

16033916

1 reference