(Q30475253)

12 October 2017

Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes (English)

1 reference

12 October 2017

1 reference

Constantine A Stratakis

series ordinal

2

object named as

Constantine A Stratakis

1 reference

12 October 2017

Maya B Lodish

1

1 reference

12 October 2017

1 June 2010

1 reference

Best Practice and Research: Clinical Endocrinology and Metabolism

12 October 2017

1 reference

12 October 2017

24

1 reference

12 October 2017

3

1 reference

12 October 2017

439-449

1 reference

Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Novel and evolving therapies in the treatment of malignant phaeochromocytoma: experience with the mTOR inhibitor everolimus (RAD001).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Oral mTOR inhibitor everolimus in patients with gemcitabine-refractory metastatic pancreatic cancer

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Familial non-medullary thyroid carcinoma: an update

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

PTEN hamartoma tumor syndromes.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

The mTOR pathway and its role in human genetic diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Molecular genetics of gastroenteropancreatic neuroendocrine tumors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Health supervision for children with neurofibromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Hereditary neuroendocrine tumors of the gastroenteropancreatic system

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Mammalian target of rapamycin: master regulator of cell growth in the nervous system

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

The diverse clinical manifestations of tuberous sclerosis complex: a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Zollinger-Ellison syndrome associated with neurofibromatosis type 1: a case report

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Diagnosis of tuberous sclerosis complex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Von Recklinghausen's neurofibromatosis associated with duodenal somatostatinoma. A case report and review of the literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

A patient with TSC1 germline mutation whose clinical phenotype was limited to lymphangioleiomyomatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Hereditary pancreatic endocrine tumours.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

PTEN: one gene, many syndromes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Insulinoma in a patient with tuberous sclerosis: is there an association?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Will the real Cowden syndrome please stand up: revised diagnostic criteria

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

NF1 gene and neurofibromatosis 1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

von Recklinghausen's disease and pheochromocytomas

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Identification and characterization of the tuberous sclerosis gene on chromosome 16

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Von Recklinghausen's disease associated with duodenal somatostatinoma: contrast of duodenal versus pancreatic somatostatinomas

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

The association between tuberous sclerosis and insulinoma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Tuberous sclerosis: unusual associations in four cases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

An estimate of the heritable fraction of childhood cancer

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Tuberous sclerosis and parathyroid adenoma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Insulinoma complicating tuberous sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Acromegalic gigantism and tuberous sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Phase I trial and pharmacokinetic study of the farnesyltransferase inhibitor tipifarnib in children with refractory solid tumors or neurofibromatosis type I and plexiform neurofibromas

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Gynecomastia and mucosal lentigines in an 8-year-old boy.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Malignant pancreatic endocrine tumor in a child with tuberous sclerosis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Tuberous sclerosis associated with spontaneous hypoglycaemia.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Hamartin and tuberin expression in human tissues

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2939061

[Secreting insulinoma and Bourneville's tuberous sclerosis]

26 November 2018

1 reference

12 December 2020

INSULINOMA AND MULTIPLE NEUROFIBROMATOSIS: REPORT OF A CASE

1 reference

12 December 2020

Enhanced protein kinase B/Akt signalling in pituitary tumours

1 reference

12 December 2020

Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases

1 reference

12 December 2020

Simultaneous Cushing's disease and tuberous sclerosis; a potential role for TSC in pituitary ontogeny

1 reference

12 December 2020

[Type I neurofibromatosis, pheochromocytoma and somatostatinoma of the ampulla. Literature review]

1 reference

12 December 2020

Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations

1 reference

12 December 2020

A mutation and expression analysis of the oncogene BRAF in pituitary adenomas

1 reference

12 December 2020

Cushing's syndrome due to a pituitary corticotropinoma in a child with tuberous sclerosis: an association or a coincidence?

1 reference

12 December 2020

Autonomous hyperprolactinemia in tuberous sclerosis

1 reference

12 December 2020

[Multiple bilateral angiomyolipomas of the kidneys in tuberous brain sclerosis in association with pleomorphous pheochromocytoma]

1 reference

12 December 2020

Parathyroid adenoma with primary hyperparathyroidism and tuberous sclerosis. A case report

1 reference

12 December 2020

[Recklinghausen's disease with digestive localizations associated with gastric acid hypersecretion suggesting Zollinger-Ellison syndrome]

1 reference

12 December 2020

Duodenal carcinoids in patients with and without neurofibromatosis. A comparative study

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

1 reference

12 December 2020

Epidemiology of tuberous sclerosis

1 reference

12 December 2020

[Metastasizing gastrinoma and tuberous sclerosis complex. Association or coincidence?]

1 reference

12 December 2020

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

1 reference

12 December 2020

Carney Complex, Peutz-Jeghers Syndrome, Cowden Disease, and Bannayan-Zonana Syndrome Share Cutaneous and Endocrine Manifestations, But Not Genetic Loci

1 reference

12 December 2020

10.1016/J.BEEM.2010.02.002

Identifiers

DOI

1 reference

12 October 2017

1 reference

12 October 2017

1 reference

PMCID

2939061