Tuberous Sclerosis Complex: new criteria for diagnostic work-up and management. (Q38414596)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25860851%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

review article

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title

Tuberous Sclerosis Complex: new criteria for diagnostic work-up and management (English)

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5 March 2020

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5 March 2020

Sharon Samueli

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5 March 2020

Klaus Abraham

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5 March 2020

Gudrun Groeppel

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5 March 2020

Constanze Jonak

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5 March 2020

Angelika Muehlebner

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5 March 2020

Daniela Prayer

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5 March 2020

Andreas Reitner

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5 March 2020

Martha Feucht

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5 March 2020

Pädiatrisches TSC-Zentrum Wien

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5 March 2020

publication date

10 April 2015

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5 March 2020

published in

Vienna Clinical Weekly

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5 March 2020

volume

127

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5 March 2020

issue

15-16

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5 March 2020

page(s)

619-630

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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

5 March 2020

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Identification and characterization of the tuberous sclerosis gene on chromosome 16

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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

21 January 2018

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Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

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Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation.

21 January 2018

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

21 January 2018

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Prevalence of tuberous sclerosis estimated by capture-recapture analysis.

21 January 2018

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Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex

21 January 2018

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Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.

21 January 2018

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The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines

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The natural history of epilepsy in tuberous sclerosis complex

21 January 2018

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The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex

21 January 2018

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Infantile spasms in tuberous sclerosis complex

21 January 2018

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Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis

21 January 2018

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Consensus clinical guidelines for the assessment of cognitive and behavioural problems in Tuberous Sclerosis

21 January 2018

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Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations.

21 January 2018

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Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.

21 January 2018

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Recent advances in the pharmacotherapy of infantile spasms

21 January 2018

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Epilepsy surgery in tuberous sclerosis: a systematic review

21 January 2018

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Epilepsy surgery in tuberous sclerosis: the Dutch experience

21 January 2018

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EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients - a prospective study of 5 patients.

21 January 2018

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Ophthalmic manifestations of tuberous sclerosis: a population based study

21 January 2018

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Current treatment modalities for exudative retinal hamartomas secondary to tuberous sclerosis: review of the literature.

21 January 2018

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Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

21 January 2018

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Clinical presentation and diagnosis of tuberous sclerosis complex in infancy

21 January 2018

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Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs

21 January 2018

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The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management.

21 January 2018

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Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

21 January 2018

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Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

21 January 2018

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Topical 0.1% rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: a pilot study of four patients

21 January 2018

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Causes of Death in Patients With Tuberous Sclerosis

21 January 2018

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Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors

21 January 2018

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Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

21 January 2018

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Malignant renal tumors in tuberous sclerosis

21 January 2018

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Tuberous Sclerosis Complex Renal Disease

21 January 2018

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Lack of efficacy of mTOR inhibitors and ACE pathway inhibitors as antifibrotic agents in evolving and established fibrosis in Mdr2⁻/⁻ mice

21 January 2018

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Angioedema in a patient with renal cell cancer treated with everolimus in combination with an angiotensin-converting enzyme inhibitor

21 January 2018

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Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial

21 January 2018

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Lymphangioleiomyomatosis: a review of the literature

21 January 2018

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Survival and disease progression in UK patients with lymphangioleiomyomatosis.

21 January 2018

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Lymphangioleiomyomatosis: what do we know and what are we looking for?

21 January 2018

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Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells

21 January 2018

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Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis

21 January 2018

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Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism.

21 January 2018

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Sustained effects of sirolimus on lung function and cystic lung lesions in lymphangioleiomyomatosis

21 January 2018

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Incidence of hepatic hamartomas in tuberous sclerosis

21 January 2018

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Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

21 January 2018

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Vascular involvement in tuberous sclerosis

21 January 2018

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Recent advances in neurobiology of Tuberous Sclerosis Complex.

21 January 2018

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Successful everolimus therapy for SEGA in pediatric patients with tuberous sclerosis complex

21 January 2018

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Subependymal giant cell astrocytoma: current concepts, management, and future directions

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00508-015-0758-Y

Strategies for the management of adverse events associated with mTOR inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00508-015-0758-Y

The cutaneous features of tuberous sclerosis: a population study

21 January 2018

1 reference

12 December 2020

A topical combination of rapamycin and tacrolimus for the treatment of angiofibroma due to tuberous sclerosis complex (TSC): a pilot study of nine Japanese patients with TSC of different disease severity

1 reference

12 December 2020

Renal lesion growth in children with tuberous sclerosis complex

1 reference

12 December 2020

Ophthalmic manifestations of tuberous sclerosis

1 reference

12 December 2020

Lymphangioleiomyomatosis: differential diagnosis and optimal management

1 reference

12 December 2020

Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex

1 reference

12 December 2020

An epidemiological study of renal pathology in tuberous sclerosis complex

1 reference

12 December 2020

Non-neurologic manifestations of tuberous sclerosis complex

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12 December 2020

Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features

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12 December 2020

Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients

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12 December 2020

Adrenocorticotropic hormone versus prednisolone in the treatment of infantile spasms post vigabatrin failure

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12 December 2020

End-stage renal failure in adults with the tuberous sclerosis complex

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12 December 2020

1 reference

12 December 2020

Renal cell carcinoma in association with tuberous sclerosis in children

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12 December 2020

Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance

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12 December 2020

10.1007/S00508-015-0758-Y

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25860851%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 March 2020

1027575027

0 references

1 reference

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