Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Hiljar, Sibul"'
Autor:
Andres Kulla, Tiina Talvik, Inga Talvik, Andres Piirsoo, Tuuli Metsvaht, Hiljar Sibul, Katre Maasalu, Eve Vaidla
Publikováno v:
Journal of Child Neurology. 22:67-70
The authors present the case of an infant girl with severe generalized weakness, multiple bone fractures, and heart defect. She needed mechanical ventilation from birth. Radiographs showed mid-diaphyseal fractures of both humeri and of the right femu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29a6bc881fed98bfc58863bd5212dd5e
https://doi.org/10.1177/0883073807299954
https://doi.org/10.1177/0883073807299954
Publikováno v:
Brain and Development. 23:236-239
We reported four cases of Hallervorden-Spatz disease. All four siblings (three males and one female) in the family are affected. The first symptoms of the disease were spastic paraparesis and optic atrophy followed by trunkal dystonia and lower motor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3528db4f90024780d2185f50f2c8802f
https://doi.org/10.1016/s0387-7604(01)00184-x
https://doi.org/10.1016/s0387-7604(01)00184-x
Autor:
Rando Allikmets, Maria D. Ramos, David Reich, Marios Kambouris, Stephen J. O'Brien, David Goldstein, Nicholas G. Martin, David Goldman, Michael Dean, Hyoung Doo Shin, Michael Aseev, Mireille Claustres, Cheryl A. Winkler, Andres Metspalu, Bernard Gerrard, Susanne Morlot, Francesco S. di Giovine, J. Claiborne Stephens, Luba Kalaydjieva, Georgios Nasioulas, Harry Ostrer, David L. Duffy, Gordon W. Duff, Mary Carrington, Paolo Gasparini, Carole Oddoux, Michael Malasky, Gavin A. Huttley, Jörg Schmidtke, Damjan Glavač, Maria Tzetis, Matthew Hanson, David Chandler, Michael W. Smith, Lynn M. Schriml, Xavier Estivill, Hiljar Sibul, Vladislav S Baranov, Emmanuel Kanavakis
Publikováno v:
The American Journal of Human Genetics. 62(6):1507-1515
The CCR5-Delta32 deletion obliterates the CCR5 chemokine and the human immunodeficiency virus (HIV)-1 coreceptor on lymphoid cells, leading to strong resistance against HIV-1 infection and AIDS. A genotype survey of 4,166 individuals revealed a cline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5e934c11a26f297a160452316da1433
Autor:
Katrin Krõlov, Imre Mäger, Made Laanpere, Taavi Lehto, Julia Suhorutsenko, Jekaterina Frolova, Ülo Langel, Oana Tudoran, Hiljar Sibul, Indrek Tulp
Publikováno v:
The Journal of molecular diagnostics : JMD. 16(1)
Chlamydia trachomatis is the most common sexually transmitted human pathogen. Infection results in minimal to no symptoms in approximately two-thirds of women and therefore often goes undiagnosed. C. trachomatis infections are a major public health c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21f70126ac4e63bdccbf5a410e6f23b
https://pubmed.ncbi.nlm.nih.gov/24331366
https://pubmed.ncbi.nlm.nih.gov/24331366
Publikováno v:
Journal of child neurology. 23(12)
The aim of this study is to establish the prevalence of fragile X syndrome among Estonian mentally retarded and also among the entire children's population born during the years 1984-2005. The study group consisted of 516 patients (448 boys and 68 gi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3245d074161930747ea047f1a4e04ebe
https://pubmed.ncbi.nlm.nih.gov/19073844
https://pubmed.ncbi.nlm.nih.gov/19073844
Autor:
Tiina Talvik, Anneli Kolk, Ulvi Astra Talkop, Manfred Wehnert, Andres Piirsoo, Karin Wulff, Rolf Warzok, Hiljar Sibul, Margit Sõnajalg, Inga Talvik
Publikováno v:
Neuromuscular disorders : NMD. 12(9)
Two brothers are reported suffering from X-linked Emery–Dreifuss muscular dystrophy caused by a 59 bp deletion eliminating nucleotides 329–388 of the STA gene. Besides the typical findings for Emery–Dreifuss muscular dystrophy, both patients sh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f219eaba651f1e20ded9a2f8bcf727d1
https://pubmed.ncbi.nlm.nih.gov/12398842
https://pubmed.ncbi.nlm.nih.gov/12398842
Publikováno v:
BMC Molecular Biology, Vol 3, Iss 1, p 5 (2002)
BMC Molecular Biology
BMC Molecular Biology
Background The rationale of using bovine papillomavirus-1 (BPV-1) derived vectors in gene therapy protocols lies in their episomal maintenance at intermediate to high copy number, and stable, high-level expression of the gene products. We constructed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a12a5071b0559d0efc1a80f3a25f73ec
http://www.biomedcentral.com/1471-2199/3/5
http://www.biomedcentral.com/1471-2199/3/5
Publikováno v:
BMC Molecular Biology. 3:5
The rationale of using bovine papillomavirus-1 (BPV-1) derived vectors in gene therapy protocols lies in their episomal maintenance at intermediate to high copy number, and stable, high-level expression of the gene products. We constructed the BPV-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbe2ec99e7bf1c99d8b10f9d35f94ca4
https://doi.org/10.1186/1471-2199-3-5
https://doi.org/10.1186/1471-2199-3-5