Tuberous Sclerosis Complex: from basic science to clinical phenotypes [PDF]
Paolo Curatolo
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Epidermal Nevi and Epidermal Naevus Syndromes
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini+2 more
wiley +1 more source
The Multifaceted Nature of Tuberous Sclerosis Complex. [PDF]
Khan SA, Baig A, Riyami D.
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Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland [PDF]
Lisa Devlin+3 more
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Clinical Classification of Mosaicism
Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti+3 more
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Tuberous Sclerosis Complex-Associated Tubulointerstitial Kidney Disease. [PDF]
Sakhi H+7 more
europepmc +1 more source
The Correlation between 1H-MR Spectroscopy and Clinical Manifestation with Tuberous Sclerosis Complex [PDF]
Nanae Matsuo+5 more
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Towards the phenotyping of autism spectrum disorder in children with tuberous sclerosis complex
Developmental Medicine &Child Neurology, Volume 67, Issue 9, Page 1113-1114, September 2025.
Ilaria Bonemazzi+4 more
wiley +1 more source
The Correlation Between Carbohydrate Loading Diet and Gut Microbiome: A Systematic Review
Carbohydrate‐loading diets alter the gut microbiome differently. High‐fat carbs raise the Firmicutes/Bacteroidetes (F/B) ratio, which is linked to obesity, while low‐fat carbs cause varied effects. Outcomes depend on carbohydrate type and other factors, highlighting the need for further research.
Omar El‐Kholy+3 more
wiley +1 more source
A bitopic mTORC inhibitor reverses phenotypes in a tuberous sclerosis complex model. [PDF]
Mukherjee S+5 more
europepmc +1 more source