Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences (Q36008501)

11 August 2017

Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences (English)

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11 August 2017

1 reference

6

Joel Moss

1 reference

11 August 2017

Diane Seibert

1

1 reference

11 August 2017

Chien-Hui Hong

2

1 reference

11 August 2017

Fumiko Takeuchi

3

1 reference

11 August 2017

Cara Olsen

4

1 reference

11 August 2017

Olonda Hathaway

5

1 reference

11 August 2017

Thomas N Darling

7

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11 August 2017

language of work or name

English

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publication date

1 June 2011

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Annals of Internal Medicine

11 August 2017

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11 August 2017

154

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11 August 2017

12

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11 August 2017

806-13, W-294

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Changes in lung function and chylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Efficacy and safety of sirolimus in lymphangioleiomyomatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Acral lesions in tuberous sclerosis complex: insights into pathogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

The natural history of epilepsy in tuberous sclerosis complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Oral findings in 58 adults with tuberous sclerosis complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Molecular genetic basis of tuberous sclerosis complex: from bench to bedside

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

The tuberous sclerosis complex and its highly variable manifestations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Advances in the understanding of tuberous sclerosis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis: forme fruste of tuberous sclerosis?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Tuberous sclerosis: a new estimate of prevalence within the Oxford region.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Genetic aspects of tuberous sclerosis in the west of Scotland

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Tuberous sclerosis complex in Olmsted County, Minnesota, 1950-1989.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Causes of Death in Patients With Tuberous Sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Role of mutational analysis in diagnosis of tuberous sclerosis complex.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Lymphangioleiomyomatosis and tuberous sclerosis.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Meningiomas in lymphangioleiomyomatosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Prevalence and Clinical Characteristics of Lymphangioleiomyomatosis (LAM) in Patients with Tuberous Sclerosis Complex

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Renal angiomyolipomas, cysts, and cancer in tuberous sclerosis complex

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Prevalence of tuberous sclerosis estimated by capture-recapture analysis.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Morbidity associated with tuberous sclerosis: a population study.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3367307

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

23 September 2018

1 reference

12 December 2020

Long-term outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex

1 reference

12 December 2020

Psychological profile of adults with tuberous sclerosis complex

1 reference

12 December 2020

1 reference

12 December 2020

Changing trends in presentation, diagnosis and management of renal angiomyolipoma: comparison of sporadic and tuberous sclerosis complex-associated forms

1 reference

12 December 2020

Periungual fibroma (Koenen tumors) as isolated sign of tuberous sclerosis complex with tuberous sclerosis complex 1 germline mutation

1 reference

12 December 2020

The ERS guidelines for LAM: trying a rationale approach to a rare disease

1 reference

12 December 2020

An epidemiological study of renal pathology in tuberous sclerosis complex

1 reference

12 December 2020

Proceedings: Tuberous sclerosis (forme fruste) vs. Cowden syndrome

1 reference

12 December 2020

10.7326/0003-4819-154-12-201106210-00008

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

21690595

1 reference