Results 221 to 230 of about 34,220 (292)

Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report. [PDF]

Front Genet
Dai F, Duan Y, Di BA, Feng Q, Cui J, Lv T.   +5 more
europepmc   +1 more source

PAX8‐positive conventional urothelial carcinomas of the urinary bladder and their distinct molecular profiles – A clinicopathologic study of 101 consecutive cases with next‐generation sequencing in 20 cases

Histopathology, Volume 88, Issue 7, Page 1315-1323, June 2026.
PAX8 expression in urothelial carcinoma was investigated in 101 consecutive transurethral resections of the urinary bladder. PAX8 was positive in 10% of cases, with targeted molecular testing of these cases revealing universal TERT promoter mutations and frequent alterations in TSC1, NOTCH1 and WT1. Aims PAX8 immunohistochemistry (IHC) is often used to
Sarah Mae Lammert, Wendy Luo, Allen C Zhu, Peng Wang, Tatjana Antic, Jung Woo Kwon   +5 more
wiley   +1 more source

Cardiac rhabdomyomas in tuberous sclerosis complex: clinical manifestations and genotype correlations. [PDF]

BMC Pediatr
Praticò AD, Lo Bianco M, Laganà A, Di Napoli C, Salafia S, Sciacca P, Polizzi A, Ruggieri M.   +7 more
europepmc   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Clinical Management of Tuberous Sclerosis: A Nephrologist's Perspective. [PDF]

Kidney360
Robichaud JH, Robichaud JH, Afrin H, Torres VE, Gupta NR.   +4 more
europepmc   +1 more source

Comparative Evaluation of CT and MRI in Detecting Intracranial and Extracranial Manifestations of Tuberous Sclerosis Complex. [PDF]

Neuropsychiatr Dis Treat
He J, Deng LH, Wang K, Deng C, Lai YM, Zeng Y.   +5 more
europepmc   +1 more source

Successful Everolimus Therapy for Atrioventricular Block Due to Cardiac Rhabdomyoma Associated With Tuberous Sclerosis Complex. [PDF]

JACC Case Rep
Baba S, Ozawa J, Tsuru H, Nukaga S, Tsukada M, Nirei J, Abe T, Numano F, Saitoh A.   +8 more
europepmc   +1 more source

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic. [PDF]

Clin Genet
Weisblum Neuman H, Via Dorembus S, Shlomovitz O, Greenberger S, Lahav E, Mini-Goldberger S, Tzadok M.   +6 more
europepmc   +1 more source

Ictal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases. [PDF]

Ital J Pediatr
Cuzzola E, Massara S, Sforza G, Voci A, Proietti Checchi M, Mazzone L, Valeriani M, Moavero R.   +7 more
europepmc   +1 more source

Onychopapilloma and Ungual Fibroma Revealing Late-Diagnosed Tuberous Sclerosis [PDF]

Balkan Med J
Burç Dağtaş B, Leblebici C.
europepmc   +1 more source