Results 191 to 200 of about 29,392 (272)

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

Smart bio-implants for seizure prediction in tuberous sclerosis complex. [PDF]

Ann Med Surg (Lond)
Panhwar DM, Rasheed Siddiqui A, Mudasir Atif M, Jaber Amin MH.   +3 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

High prevalence of orocutaneous features in Yemeni patients with tuberous sclerosis complex. [PDF]

JAAD Int
Alshami MA, Al-Shami AM, Mohana MJ, Mohammed Al-Sayaghi AA, Alshami HM.   +4 more
europepmc   +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

A Chinese Tuberous Sclerosis Complex Family and a Novel Tuberous Sclerosis Complex-2 Mutation

Chinese Medical Journal, 2015
Rong Luo, Qianyun Cai, Dezhi Mu
doaj   +1 more source

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

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