Found: 34
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Histopathological features of fibrous cephalic plaques in tuberous sclerosis complex.
- Published in:
- Histopathology, 2021, v. 79, n. 4, p. 619, doi. 10.1111/his.14392
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- Publication type:
- Article
Dermatologic findings in individuals with genetically confirmed Proteus syndrome.
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 4, p. 794, doi. 10.1111/pde.14624
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- Publication type:
- Article
Physical, Psychological and Ethical issues in Caring for Individuals with Genetic Skin Disease.
- Published in:
- 2013
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- Publication type:
- Journal Article
Microenvironment Regulators of Metastasis Favor Lymphangioleiomyomatosis Cell Growth and Disease Progression.
- Published in:
- 2023
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- Publication type:
- Letter to the Editor
A Mixed Blood-Lymphatic Endothelial Cell Phenotype in Lymphangioleiomyomatosis and Idiopathic Pulmonary Fibrosis but Not in Kaposi’s Sarcoma or Tuberous Sclerosis Complex.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2022, v. 66, n. 3, p. 337, doi. 10.1165/rcmb.2021-0293le
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- Publication type:
- Article
The Lymphangioleiomyomatosis Lung Cell and Its Human Cell Models.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2018, v. 58, n. 6, p. 678, doi. 10.1165/rcmb.2017-0403TR
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- Publication type:
- Article
Prevalence of Tuberous Sclerosis Complex in Taiwan: A National Population-Based Study.
- Published in:
- Neuroepidemiology, 2009, v. 33, n. 4, p. 335, doi. 10.1159/000254569
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- Publication type:
- Article
Topical Sirolimus to Treat Tuberous Sclerosis Complex (TSC).
- Published in:
- 2018
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- Publication type:
- editorial
Clinical Characteristics of Connective Tissue Nevi in Tuberous Sclerosis Complex With Special Emphasis on Shagreen Patches.
- Published in:
- 2017
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- Publication type:
- journal article
The Adult Phenotype of Tuberous Sclerosis Complex.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 2, p. 278, doi. 10.2340/00015555-2203
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- Publication type:
- Article
Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 10, p. 1095, doi. 10.1001/jamadermatol.2014.938
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- Publication type:
- Article
Lymphatic Involvement in Lymphangioleiomyomatosis.
- Published in:
- Annals of the New York Academy of Sciences, 2008, v. 1131, p. 206, doi. 10.1196/annals.1413.018
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- Publication type:
- Article
and Genotype in Tuberous Sclerosis Complex: Are Other Manifestations of this Multisystem Disease Affected by Genotype?
- Published in:
- 2021
- By:
- Publication type:
- editorial
Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation.
- Published in:
- 2017
- By:
- Publication type:
- case study
Activating mutations in discoidin domain receptor 2 cause Warburg‐Cinotti syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5376
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- Publication type:
- Article
Phenotypic Characterization of Disseminated Cells with TSC2 Loss of Heterozygosity in Patients with Lymphangioleiomyomatosis.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2010, v. 182, n. 11, p. 1410, doi. 10.1164/rccm.201003-0489OC
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- Publication type:
- Article
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 8, p. 2023, doi. 10.1093/hmg/ddt597
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- Publication type:
- Article
Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0047842
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- Publication type:
- Article
A model system to analyse the ability of human keratinocytes to form hair follicles.
- Published in:
- Experimental Dermatology, 2014, v. 23, n. 6, p. 443, doi. 10.1111/exd.12424
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- Publication type:
- Article
Somatic Overgrowth Disorders of the PI3K/AKT/mTOR Pathway & Therapeutic Strategies.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 4, p. 402, doi. 10.1002/ajmg.c.31531
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- Publication type:
- Article
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 928, doi. 10.1038/ng.2332
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- Publication type:
- Article
Recognition of Tuberous Sclerosis in Adult Women: Delayed Presentation With Life-Threatening Consequences.
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- Annals of Internal Medicine, 2011, v. 154, n. 12, p. 806, doi. 10.7326/0003-4819-154-12-201106210-00008
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- Publication type:
- Article
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.
- Published in:
- Pigment Cell & Melanoma Research, 2014, v. 27, n. 3, p. 454, doi. 10.1111/pcmr.12226
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- Publication type:
- Article
Rapid Shape Change and Release of Ninhydrin-Positive Substances by Leishmania major Promastigotes in Response to Hypo-Osnjotic Stress.
- Published in:
- Journal of Eukaryotic Microbiology, 1990, v. 37, n. 6, p. 493, doi. 10.1111/j.1550-7408.1990.tb01254.x
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- Publication type:
- Article
Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa.
- Published in:
- Experimental Dermatology, 2002, v. 11, n. 1, p. 75, doi. 10.1034/j.1600-0625.2002.110108.x
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- Publication type:
- Article
Late‐onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2766, doi. 10.1002/ajmg.a.62761
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- Publication type:
- Article
Alteration of Skin Properties with Autologous Dermal Fibroblasts.
- Published in:
- International Journal of Molecular Sciences, 2014, v. 15, n. 5, p. 8407, doi. 10.3390/ijms15058407
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- Publication type:
- Article
Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Central centrifugal cicatricial alopecia: A common but under‐recognized and under‐treated disease finally comes of age.
- Published in:
- Journal of Cutaneous Pathology, 2022, v. 49, n. 2, p. 204, doi. 10.1111/cup.14164
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- Publication type:
- Article
AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome.
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- Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 543, doi. 10.1038/jid.2013.312
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- Publication type:
- Article
Dissociated Human Dermal Papilla Cells Induce Hair Follicle Neogenesis in Grafted Dermal-Epidermal Composites.
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- Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 538, doi. 10.1038/jid.2013.337
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- Publication type:
- Article
Cutaneous Tumors in Patients with Multiple Endocrine Neoplasia Type 1 Show Allelic Deletion of...
- Published in:
- Journal of Investigative Dermatology, 1998, v. 110, n. 4, p. 438, doi. 10.1046/j.1523-1747.1998.00140.x
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- Publication type:
- Article
A Deletion Mutation in COL17A1 in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa Represents Propagation of an Ancestral Allele.
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- Journal of Investigative Dermatology, 1998, v. 110, n. 2, p. 170, doi. 10.1046/j.1523-1747.1998.00101.x
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- Publication type:
- Article
Cycloheximide Facilitates the Identification of Aberrant Transcripts Resulting from a Novel Splice-Site Mutation in COL17A1 in a Patient with Generalized Atrophic Benign Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 1998, v. 110, n. 2, p. 165, doi. 10.1046/j.1523-1747.1998.00103.x
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- Publication type:
- Article