(Q35197831)

7 August 2017

title

Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes (English)

1 reference

7 August 2017

1 reference

J Eggenschwiler

1

1 reference

7 August 2017

T Ludwig

2

1 reference

7 August 2017

P Fisher

3

1 reference

7 August 2017

P A Leighton

4

1 reference

7 August 2017

S M Tilghman

5

1 reference

7 August 2017

A Efstratiadis

6

1 reference

7 August 2017

publication date

1 December 1997

1 reference

7 August 2017

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7 August 2017

volume

11

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7 August 2017

issue

23

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7 August 2017

page(s)

3128-3142

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Embryology of Exomphalos and Allied Malformations

7 August 2017

cites work

1 reference

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Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome

28 July 2018

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Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors

28 July 2018

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Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome

28 July 2018

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Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice

28 July 2018

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Embryonic development of the ventral body wall and its congenital malformations.

28 July 2018

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Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development.

28 July 2018

1 reference

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OCI-5/rat glypican-3 binds to fibroblast growth factor-2 but not to insulin-like growth factor-2.

28 July 2018

1 reference

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An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

28 July 2018

1 reference

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Limbs: a model for pattern formation within the vertebrate body plan

28 July 2018

1 reference

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Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case

28 July 2018

1 reference

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Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Beckwith-Wiedemann syndrome and the insulin-like growth factor-II gene. Does the genotype explain the phenotype?

28 July 2018

1 reference

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Beckwith-Wiedemann syndrome. An update and review for the primary pediatrician.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Insulin-like growth factor-I receptor. Its role in cell proliferation, apoptosis, and tumorigenicity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

An enhancer deletion affects both H19 and Igf2 expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Molecular and cellular aspects of the insulin-like growth factor I receptor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Disruption of imprinting caused by deletion of the H19 gene region in mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Vitreous levels of the insulin-like growth factors I and II, and the insulin-like growth factor binding proteins 2 and 3, increase in neovascular eye disease. Studies in nondiabetic and diabetic subjects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Eyelid growth and fusion in fetal mice. A scanning electron microscope study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

A Weaver-like syndrome in a Japanese boy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

The Golabi-Rosen syndrome--report of a second family

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

A new X-linked mental retardation-overgrowth syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Exomphalos-Macroglossia-Gigantism Syndrome in Jamaican Infants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Exomphalos with macroglossia: a study of eleven cases.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Growth allometry of the organs in giant transgenic mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Wiedemann-Beckwith syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Cleft palate in the Beckwith-Wiedemann syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Parental imprinting of the mouse insulin-like growth factor II gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Serum Insulin-Like Growth Factors and Insulin-Like Growth Factor Binding Proteins in the Human Fetus. Relationships with Growth in Normal Subjects and in Subjects with Intrauterine Growth Retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Parental imprinting of the mouse H19 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Myocardial dysgenesis with persistent sinusoids in a neonate with Noonan's phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

The endocardial endothelium

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Insulin-like growth factor I and II and insulin-like growth factor binding protein-2 RNAs are expressed in adjacent tissues within rat embryonic and fetal limbs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Monoallelic expression of the human H19 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Physical linkage of two mammalian imprinted genes, H19 and insulin-like growth factor 2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Differential expression of insulin-like growth factors I and II (IGF I and II), mRNA, peptide and binding protein 1 during mouse palate development: comparison with TGF beta peptide distribution

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

The genetics of hand malformations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Growth-promoting interaction of IGF-II with the insulin receptor during mouse embryonic development.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Role of growth factors in the developmental regulation of the human fetal adrenal cortex

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Clinical features in the Wiedemann-Beckwith syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Molecular biology of Beckwith-Wiedemann syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Mouse mutants lacking the type 2 IGF receptor (IGF2R) are rescued from perinatal lethality in Igf2 and Igf1r null backgrounds

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Somatic overgrowth associated with overexpression of insulin-like growth factor II.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Regulation of embryonic growth and lysosomal targeting by the imprinted Igf2/Mpr gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Dynamics of normal growth

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

Glypicans: a growing trend

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=316748

The mouse chromosome 7 distal imprinting domain maps to G-bands F4/F5

15 November 2018

1 reference

12 December 2020

Beckwith-Wiedemann syndrome. Clinical comparison between patients with and without 11p15 trisomy

1 reference

12 December 2020

A case of nondiabetic macrosomia with Simpson-Golabi-Behmel syndrome: antenatal sonographic findings

1 reference

12 December 2020

Radiology of the Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Parental genomic imprinting of the human IGF2 gene

1 reference

12 December 2020

Beckwith-Wiedemann syndrome

1 reference

12 December 2020

A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?

1 reference

12 December 2020

Localization of mRNAs for insulin-like growth factor-I (IGF-I), IGF-I receptor, and IGF binding proteins in rat eye

1 reference

12 December 2020

Syndrome of hyperplastic fetal visceromegaly and neonatal hypoglycemia (Beckwith's syndrome). A report of seven cases

1 reference

12 December 2020

Benign hemorrhagic adrenocortical macrocysts in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein

1 reference

12 December 2020

GENETIC AND ENVIRONMENTAL EFFECTS ON FOETAL AND PLACENTAL GROWTH IN MICE

1 reference

12 December 2020

Macroglossia as a presentation of the Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Fetal midgut herniation into the umbilical cord: improved definition of ventral abdominal anomaly with the use of transvaginal sonography

1 reference

12 December 2020

IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome

1 reference

12 December 2020

The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity

1 reference

12 December 2020

Factoring in the limb

1 reference

12 December 2020

A previously unrecognized X-linked syndrome of dysmorphia

1 reference

12 December 2020

Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome

1 reference

12 December 2020

Intrauterine growth and ultrasound findings in fetuses with Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome

1 reference

12 December 2020

Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family

1 reference

12 December 2020

Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases

1 reference

12 December 2020

Distribution of IGF-I and -II, IGF binding proteins (IGFBPs) and IGFBP mRNA in ocular fluids and tissues: potential sites of synthesis of IGFBPs in aqueous and vitreous

1 reference

12 December 2020

The relation between human fetal growth and fetal blood levels of insulin-like growth factors I and II, their binding proteins, and receptors

1 reference

12 December 2020

Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential

1 reference

12 December 2020

Cardiovascular abnormalities in the Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11

1 reference

12 December 2020

Perinatal lethality in H19 enhancers-Igf2 transgenic mice

1 reference

12 December 2020

Acromegalic pregnancy associated with a Beckwith-Wiedemann fetus

1 reference

12 December 2020

The Beckwith-Wiedemann syndrome phenotype and the risk of cancer

1 reference

12 December 2020

Molecular investigation of familial Beckwith-Wiedemann syndrome: a model for paternal imprinting

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families

1 reference

12 December 2020

Development of mouse intestines

1 reference

12 December 2020

Insulin-like growth factor II may play a local role in the regulation of ocular size

1 reference

12 December 2020

Abnormally large placenta associated with Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Epigenetic mechanisms underlying the imprinting of the mouse H19 gene

1 reference

12 December 2020

Roles for mannose-6-phosphate receptors in lysosomal enzyme sorting, IGF-II binding and clathrin-coat assembly

1 reference

12 December 2020

The placenta in familial beckwith-wiedemann syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1101/GAD.11.23.3128

1 reference

7 August 2017

1 reference

7 August 2017

1 reference