User profiles for Sergiusz Jozwiak
 | Sergiusz JóźwiakProfesor dr hab.med., Warszawski Uniwersytet Medyczny Verified email at czd.pl Cited by 15599 |
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
widespread development of distinctive tumors termed hamartomas. TSC-determining loci …
widespread development of distinctive tumors termed hamartomas. TSC-determining loci …
[HTML][HTML] Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
…, M Sauter, B Zonneberg, S Jóźwiak… - Pediatric …, 2013 - Elsevier
Background Tuberous sclerosis complex is highly variable in clinical presentation and
findings. Disease manifestations continue to develop over the lifetime of an affected individual. …
findings. Disease manifestations continue to develop over the lifetime of an affected individual. …
Tuberous sclerosis
P Curatolo, R Bombardieri, S Jozwiak - The Lancet, 2008 - thelancet.com
Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas
in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The …
in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The …
[PDF][PDF] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
SL Dabora, S Jozwiak, DN Franz, PS Roberts… - The American Journal of …, 2001 - cell.com
Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations
in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis …
in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis …
[HTML][HTML] Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
…, M Sauter, B Zonneberg, S Jóźwiak… - Pediatric …, 2013 - Elsevier
Background Tuberous sclerosis complex is a genetic disorder affecting every organ system,
but disease manifestations vary significantly among affected individuals. The diverse and …
but disease manifestations vary significantly among affected individuals. The diverse and …
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo …
…, H Cauwel, D Lebwohl, T Sahmoud, S Jozwiak - The Lancet, 2013 - thelancet.com
Background Tuberous sclerosis complex is a genetic disorder leading to constitutive
activation of mammalian target of rapamycin (mTOR) and growth of benign tumours in several …
activation of mammalian target of rapamycin (mTOR) and growth of benign tumours in several …
[HTML][HTML] Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations
Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …
Tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2…
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2…
Tuberous sclerosis complex: advances in diagnosis, genetics, and management
…, G Fernández, K Kotulska, S Jóźwiak - Journal of the American …, 2007 - Elsevier
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous
syndrome characterized by the development of multiple hamartomas distributed throughout …
syndrome characterized by the development of multiple hamartomas distributed throughout …
[HTML][HTML] Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex
S Jóźwiak, K Kotulska, D Domańska-Pakieła… - european journal of …, 2011 - Elsevier
BACKGROUND: Epilepsy appears in 70–80% of patients with tuberous sclerosis complex,
most commonly in the first year of age. Early manifestation of epilepsy is associated with drug-…
most commonly in the first year of age. Early manifestation of epilepsy is associated with drug-…