Search Results - "Kahre, T"

Large gene panel sequencing in clinical diagnostics—results from 501 consecutive cases by Pajusalu, S., Kahre, T., Roomere, H., Murumets, Ü., Roht, L., Simenson, K., Reimand, T., Õunap, K.

“…Background In addition to whole exomes, large gene panels of clinically associated genes are used as high‐throughput sequencing tests in many clinical centers,…”
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The number of CAG and GGN triplet repeats in the Androgen Receptor gene exert combinatorial effect on hormonal and sperm parameters in young men by Grigorova, M., Punab, M., Kahre, T., Ivandi, M., Tõnisson, N., Poolamets, O., Vihljajev, V., Žilaitienė, B., Erenpreiss, J., Matulevičius, V., Laan, M.

“…Summary Androgen receptor (AR) is a transcription factor that is activated upon binding to testosterone (T) and is implicated in regulating the expression of…”
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Factor V Leiden and prothrombin 21210G>A mutation and paediatric ischaemic stroke: a case-control study and two meta-analyses by Laugesaar, R, Kahre, T, Kolk, A, Uustalu, Ü, Kool, P, Talvik, T

“…Aim:  To determine whether factor V Leiden (FVL) and prothrombin (PT) 20210G>A mutation are associated with paediatric ischaemic stroke. Methods:  The study…”
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P202 – 2912: Methylenetetrahydrofolate reductase (MTHFR) polymorphisms A1298C and C677T as genetic risk factors for perinatal and childhood arterial ischemic stroke? by Kolk, A, Lorenz, A.-L, Laugessaar, R, Talvik, T, Kahre, T, Nikopensius, T, Mihailov, E, Metspalu, A

“…Objective The knowledge of arterial ischemic stroke (AIS) risk factors is still insufficient. Most frequently reported risk factors are cerebral…”
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Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients by Teek, R, Kruustük, K, Žordania, R, Joost, K, Kahre, T, Tõnisson, N, Nelis, M, Zilina, O, Tranebjaerg, L, Reimand, T, Õunap, K

“…The present study was initiated to establish the etiological causes of early onset hearing loss (HL) among Estonian children between 2000–2009. The study group…”
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374 Clinical and demographic characteristics of Estonian cystic fibrosis patients by Vasar, M, Julge, K, Kivivare, M, Moor, R, Puks, K, Putnik, U, Kahre, T

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Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia by Joost, K., Õunap, K., Žordania, R., Uudelepp, M.-L., Olsen, R. K., Kall, K., Kilk, K., Soomets, U., Kahre, T.

“…The aim of our study was to evaluate the prevalence of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the general Estonian population and…”
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Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report by Zhytnik, Lidiia, Peters, Maire, Tilk, Kadi, Reimand, Tiia, Ilisson, Piret, Kahre, Tiina, Murumets, Ülle, Ehrenberg, Aivar, Ustav, Eva-Liina, Tõnisson, Neeme, Mölder, Signe, Teder, Hindrek, Krjutškov, Kaarel, Salumets, Andres

“…Permanent progression of paternal age and development of reproductive medicine lead to increase in number of children conceived with assisted reproductive…”
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Factor V Leiden and prothrombin 20210G>A [corrected] mutation and paediatric ischaemic stroke: a case-control study and two meta-analyses by Laugesaar, R, Kahre, T, Kolk, A, Uustalu, U, Kool, P, Talvik, T

“…To determine whether factor V Leiden (FVL) and prothrombin (PT) 20210G>A mutation are associated with paediatric ischaemic stroke. The study consisted of two…”
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Descriptive epidemiology of spinal muscular atrophy type I in Estonia by Vaidla, Eve, Talvik, Inga, Kulla, Andres, Kahre, Tiina, Hamarik, Malle, Napa, Aita, Metsvaht, Tuuli, Piirsoo, Andres, Talvik, Tiina

“…Spinal muscular atrophy is the second most frequent autosomal-recessive disorder in Europeans. There are no published epidemiological data on SMA in Estonia…”
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A descriptive epidemiological study of Duchenne muscular dystrophy in childhood in Estonia by Talkop, Ülvi-Astra, Kahre, Tiina, Napa, Aita, Talvik, Inga, Sööt, Anu, Piirsoo, Andres, Sander, Valentin, Talvik, Tiina

“…Duchenne muscular dystrophy (DMD) is the most frequent muscle disorder in childhood. There are no data on the epidemiology of muscular dystrophy in Estonia and…”
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