Results 191 to 200 of about 348,390 (367)
Epilepsia, EarlyView.Abstract Drug development for developmental and epileptic encephalopathies (DEEs) follows different strategies on one hand including disease‐targeting precision medicine approaches considering the genetic variants and pathomechanisms in DEEs and on the other hand including therapeutic approaches with novel targets or second‐generation drug candidates ...
Heidrun Potschka, Daniel Pérez‐Pérez
wiley +1 more source
Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group. [PDF]
, 1992 Julian R. Sampson +2 more
openalex +1 more source
Ultrasonographic diagnosis of caudoproximal humeral stress fracture in thoroughbred racehorses
Equine Veterinary Journal, EarlyView.Abstract Background Humeral stress fractures in racehorses can progress to catastrophic fracture if unrecognised. Scintigraphy is the gold standard diagnostic technique but is limited by accessibility and cost. It was hypothesised that ultrasonography could be used to visualise caudoproximal humeral stress fractures. Objectives To determine the utility
Betsy Vaughan +6 more
wiley +1 more source
Spontaneous pneumothorax associated with tuberous sclerosis
, 1982 Terence L. Babcock, Bruce A. Snyder
openalex +1 more source
Insulinoma complicating tuberous sclerosis. [PDF]
, 1992 Peter Davoren, Murray Epstein
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Histopathology, EarlyView.We report on three patients with Tuberous Sclerosis Complex (TSC) who had renal cell carcinomas with fibromyomatous stroma (RCC FMS), demonstrating a coexistent haemangioblastoma (HB)‐like morphology. Our findings support the conclusion that HB‐like features are part of the spectrum of RCC FMS with TSC/MTOR alterations.
Katherina Baranova +17 more
wiley +1 more source
RHEBI Expression in Embryonic and Postnatal Mouse
, 2016 Ras homolog enriched in brain (RHEB1) is a member within the superfamily of GTP-binding proteins encoded by the RAS oncogenes. RHEB1 is located at the crossroad of several important pathways including the insulin-signaling pathways and thus plays an ...
Clement, Joachim H. +8 more
core
Pulmonary lymphangioleiomyomatosis: a "forme fruste" of tuberous sclerosis? [PDF]
, 1990 Sergiusz Jóźwiak
openalex +1 more source
International Journal of Urology, EarlyView.ABSTRACT Renal cell carcinoma is a heterogeneous disease with diverse phenotypes. Renal cell carcinoma classification is based on morphological and molecular characteristics and falls into 2 main categories: clear cell renal cell carcinoma and non‐clear cell renal cell carcinoma.
Shotaro Nakanishi, Junichi Inokuchi
wiley +1 more source
A case of tuberous sclerosis presenting with dysrhythmia in the first day of life
The Turkish Journal of Pediatrics, 2004 Cardiac rhabdomyoma (CR) is the most common primary cardiac tumor in childhood. Although CRs are asymptomatic in many cases, they may cause arrhythmia, heart failure and fetal hydrops.
Figen Akalin +5 more
doaj