Results 231 to 240 of about 348,390 (367)

Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex. [PDF]

Neurol Genet
Balthazard R, Li J, Loubert F, Drouin-Engler RM, Boisclair M, Coquelet P, Nguyen A, Rebillard RM, Arbour N, Major P, House AA, Larochelle C, Keezer MR.   +12 more
europepmc   +1 more source

Factor XIIIa in the hamartomas of tuberous sclerosis

, 1991
Neal S. Penneys, Kathleen J. Smith, Albert J. Nemeth   +2 more
openalex   +1 more source

Aniridia in a patient with tuberous sclerosis [PDF]

, 1997
Dan Miléa, C. Burillon
openalex   +1 more source

Genetic Testing in Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 664-668, August 2025.
ABSTRACT Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patient and families regarding prognosis and risk of ...
Cristina Has
wiley   +1 more source

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations. [PDF]

Sci Rep
Praticò AD, Di Napoli C, Salafia S, Dammino E, Piccione M, Calì F, Scifo R, Vecchio M, Zonta A, Bonsignore M, Elia M, Lo Bianco M, Polizzi A, Ruggieri M.   +13 more
europepmc   +1 more source

Loss of heterozygosity in tuberous sclerosis hamartomas. [PDF]

, 1996
Tiina Sepp, John R.W. Yates, Andrew Green   +2 more
openalex   +1 more source

Categories of Cutaneous Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.
ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley   +1 more source

New insights into tuberous sclerosis complex: from structure to pathogenesis. [PDF]

Front Cell Dev Biol
Chen CS, Aylett CHS.
europepmc   +1 more source

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
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, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: illustrative case. [PDF]

J Neurosurg Case Lessons
Ledford WL, Carr CJ, Alfaro MG, Conger C, Sharma SJ, Henson JW, Nguyen KD.   +6 more
europepmc   +1 more source