Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jolanta Kasprzyk-Obara"'
Autor:
Małgorzata Syczewska, Magdalena Kaczorowska, Dorota Domańska-Pakieła, Dariusz Kuczyński, Dariusz Chmielewski, Jolanta Kasprzyk-Obara, Dorota Dunin-Wąsowicz, Tomasz Kmieć, Barbara Łojszczyk, Sergiusz Jóźwiak, Katarzyna Kotulska, Elżbieta Jurkiewicz
Publikováno v:
Epilepsia. 52:22-27
Summary Purpose: The aim of the study was to reveal the relationships between the tuber count of the brain found in patients with tuberous sclerosis complex (TSC) and their cognitive outcome. Methods: A single-center, retrospective analysis was perfo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83aeca8e51a18a936c2a02312938f88f
https://doi.org/10.1111/j.1528-1167.2010.02892.x
https://doi.org/10.1111/j.1528-1167.2010.02892.x
Publikováno v:
Epilepsia. 51:1212-1218
Purpose: A prospective study estimating antiepilepticand antiviral regimens administered to infants with symp-tomatic epilepsy and human cytomegalovirus (HCMV)neuroinfectionfollowedforatleast4 years.Methods: Thirty-two infants (19 female, 13 male) wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ec6927f4675ed55705247d5393567a9
https://doi.org/10.1111/j.1528-1167.2009.02467.x
https://doi.org/10.1111/j.1528-1167.2009.02467.x
Autor:
Elżbieta Jurkiewicz, Monika Kapusta, Bogumiła Milewska-Bobula, Dorota Dunin-Wasowicz, Jolanta Kasprzyk-Obara
Publikováno v:
Developmental Medicine & Child Neurology. 49:684-692
From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e02d8477558027eafd8695d2f7409bb6
https://doi.org/10.1111/j.1469-8749.2007.00684.x
https://doi.org/10.1111/j.1469-8749.2007.00684.x
Autor:
Penelope S. Roberts, Małgorzata Tomyn-Drabik, Sergiusz Jóźwiak, Katarzyna Kotulska, Jolanta Kasprzyk-Obara, David J. Kwiatkowski, Dorota Domańska-Pakieła
Publikováno v:
Pediatrics. 118:e1146-e1151
OBJECTIVE. Tuberous sclerosis complex is an autosomal dominant disorder in which hamartomas occur in several organs. Cardiac rhabdomyomas, the most common heart tumors of childhood, are well known to be associated with tuberous sclerosis complex. Our
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f8709e0a20e379529a7e1f1ddca57e3
https://doi.org/10.1542/peds.2006-0504
https://doi.org/10.1542/peds.2006-0504
Autor:
Jolanta Kasprzyk-Obara, Sandra L. Dabora, David Neal Franz, Mary Pat Reeve, Yo Niida, Vijaya Ramesh, Y. S. Choy, David J. Kwiatkowski, F. Hall
Publikováno v:
Annals of Human Genetics. 63:383-391
We evaluated denaturing high pressure liquid chromatography (DHPLC) as a scanning method for mutation detection in TSC2, and compared it to conformation-sensitive gel electrophoresis (CSGE) and single-stranded conformation polymorphism analysis (SSCP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a7449c7a6ec2966822f6114347db3b7
https://doi.org/10.1046/j.1469-1809.1999.6350383.x
https://doi.org/10.1046/j.1469-1809.1999.6350383.x
Autor:
F. Hall, Jolanta Kasprzyk-Obara, Elizabeth P. Henske, P. McNAMARA, Jadwiga Wigowska-Sowińska, S. Jozwiak, M. P. Short, Jonathan L. Haines, David J. Kwiatkowski, J. Kwiatkowska, J. Braiser
Publikováno v:
Annals of Human Genetics. 62:277-285
We performed a comprehensive analysis for mutations in the TSC1 gene using Southern blot analysis, and SSCP and heteroduplex analysis of amplified exons in 13 families with genetic linkage to the TSC1 region, 22 small families without linkage informa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51e04eba6282b62210a3e0e4daa9f574
https://doi.org/10.1046/j.1469-1809.1998.6240277.x
https://doi.org/10.1046/j.1469-1809.1998.6240277.x
Publikováno v:
Epilepsia. 51(7)
A prospective study estimating antiepileptic and antiviral regimens administered to infants with symptomatic epilepsy and human cytomegalovirus (HCMV) neuroinfection followed for at least 4 years.Thirty-two infants (19 female, 13 male) with epileptic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::25fe1b50875e939970d003915e68137f
https://pubmed.ncbi.nlm.nih.gov/20041942
https://pubmed.ncbi.nlm.nih.gov/20041942
Publikováno v:
Medical science monitor : international medical journal of experimental and clinical research. 11(5)
Tuberous sclerosis complex (TSC) is an autosomal, dominantly inherited neurocutaneous syndrome characterized by a wide range of neurological abnormalities, tumors of different organs, and variable clinical symtomatology and severity. TSC is caused by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::328df449b8f3f2f7c89e8e702ac3fdbe
https://pubmed.ncbi.nlm.nih.gov/15874888
https://pubmed.ncbi.nlm.nih.gov/15874888
Autor:
Mary Pat Reeve, Joon Chung, Dorota Domańska-Pakieła, Penelope S. Roberts, Jolanta Kasprzyk-Obara, Elizabeth A. Thiele, Sandra L. Dabora, Andres Nieto, John C. Egelhoff, David J. Kwiatkowski, Sergiusz Jozwiak, Yew-Sing Choy, David Neal Franz
Publikováno v:
The American Journal of Human Genetics. (1):64-80
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 224 index patients with TSC and correlate mutation findings with clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab9facf02507ba97dd97c3ec08d0bfce