Search Results - "KOCOVA, M"

Genetic spectrum of neonatal diabetes by Kocova, M

“…Neonatal diabetes (ND) appears during the first months of life and is caused by a single gene mutation. It is heterogenous and very different compared to other…”
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Trends in childhood type 1 diabetes incidence in Europe during 1989–2008: evidence of non-uniformity over time in rates of increase by Patterson, C. C., Gyürüs, E., Rosenbauer, J., Cinek, O., Neu, A., Schober, E., Parslow, R. C., Joner, G., Svensson, J., Castell, C., Bingley, P. J., Schoenle, E., Jarosz-Chobot, P., Urbonaité, B., Rothe, U., Krzisnik, C., Ionescu-Tirgoviste, C., Weets, I., Kocova, M., Stipancic, G., Samardzic, M., de Beaufort, C. E., Green, A, Dahlquist, G. G., Soltész, G.

“…Aims/hypothesis The aim of the study was to describe 20-year incidence trends for childhood type 1 diabetes in 23 EURODIAB centres and compare rates of…”
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Effect of exogenously applied 20-hydroxyecdysone on the efficiency of primary photosynthetic processes substantially differs across plant species by HOLÁ, D., FRIMLOVÁ, K., KOČOVÁ, M., MARKOVÁ, H., ROTHOVÁ, O., TŮMOVÁ, L.

“…The effects of 20-hydroxyecdysone on the primary photosynthetic processes (PPP) were examined across twelve plant species using the OJIP chlorophyll…”
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Novel glucokinase gene mutation in the first Macedonian family tested for MODY by Kocova, M, Elblova, L, Pruhova, S, Lebl, J, Dusatkova, P

“…Highlights • We describe a novel GCK-MODY mutation in a Macedonian family, the very first family tested for GCK-MODY gene in the country. • To our knowledge,…”
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Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis by Kocova, M, Plaseska-Karanfilska, D, Noveski, P, Kuzmanovska, M

“…Steroid 5-α-reductase-2 (5-ARD) deficiency is a result of mutations of the gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals…”
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Age-period-cohort modelling of type 1 diabetes incidence rates among children included in the EURODIAB 25-year follow-up study by Svensson, J., Ibfelt, E. H., Carstensen, B., Neu, A., Cinek, O., Skrivarhaug, T., Rami-Merhar, B., Feltbower, R. G., Castell, C., Konrad, D., Gillespie, K., Jarosz-Chobot, P., Marčiulionytė, D., Rosenbauer, J., Bratina, N., Ionescu-Tirgoviste, C., Gorus, F., Kocova, M., de Beaufort, C., Patterson, C. C.

“…Aims Specific patterns in incidence may reveal environmental explanations for type 1 diabetes incidence. We aimed to study type 1 diabetes incidence in…”
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High Incidence of Congenital Hypothyroidism in One Region of the Republic of Macedonia by Anastasovska, V., R., Koviloska, M., Kocova

“…Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation in children. Diagnosis is difficult at birth without neonatal…”
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Seasonal variation in month of diagnosis in children with type 1 diabetes registered in 23 European centers during 1989-2008: little short-term influence of sunshine hours or average temperature by Patterson, CC, Gyürüs, E, Rosenbauer, J, Cinek, O, Neu, A, Schober, E, Parslow, RC, Joner, G, Svensson, J, Castell, C, Bingley, PJ, Schoenle, E, Jarosz-Chobot, P, Urbonaité, B, Rothe, U, Kržišnik, C, Ionescu-Tirgoviste, C, Weets, I, Kocova, M, Stipancic, G, Samardzic, M, de Beaufort, CE, Green, A, Soltész, G, Dahlquist, GG

“…Background The month of diagnosis in childhood type 1 diabetes shows seasonal variation. Objective We describe the pattern and investigate if year‐to‐year…”
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Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes? by Cameron, F. J., Skinner, T. C., De Beaufort, C. E., Hoey, H., Swift, P. G. F., Aanstoot, H., Åman, J., Martul, P., Chiarelli, F., Daneman, D., Danne, T., Dorchy, H., Kaprio, E. A., Kaufman, F., Kocova, M., Mortensen, H. B., Njølstad, P. R., Phillip, M., Robertson, K. J., Schoenle, E. J., Urakami, T., Vanelli, M., Ackermann, R. W., Skovlund, S. E.

“…Aims  To assess the importance of family factors in determining metabolic outcomes in adolescents with Type 1 diabetes in 19 countries. Methods  Adolescents…”
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Clinical variability in two Macedonian families with Arterial tortuosity syndrome by Kocova, M, Kacarska, R, Kuzevska-Maneva, K, Prijic, S, Lazareska, M, Dordoni, C, Ritelli, M, Colombi, M

“…Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 ( ) gene encoding a…”
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Myopathic form of carnitine palmitoyltransferase II deficiency – Case report by Angelkova, N, Sukarova-Angelovska, E, Kocova, M, Duma, F, Sabolic, V

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Target setting in intensive insulin management is associated with metabolic control: the Hvidoere Childhood Diabetes Study Group Centre Differences Study 2005 by Swift, PGF, Skinner, TC, De Beaufort, CE, Cameron, FJ, Åman, J, Aanstoot, H-J, Castaño, L, Chiarelli, F, Daneman, D, Danne, T, Dorchy, H, Hoey, H, Kaprio, EA, Kaufman, F, Kocova, M, Mortensen, HB, Njølstad, PR, Phillip, M, Robertson, KJ, Schoenle, EJ, Urakami, T, Vanelli, M, Ackermann, RW, Skovlund, SE

“…Swift PGF, Skinner TC, de Beaufort CE, Cameron FJ, Åman J, Aanstoot H‐J, Castaño L, Chiarelli F, Daneman D, Danne T, Dorchy H, Hoey H, Kaprio EA, Kaufman F,…”
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The effects of brassinosteroids on photosynthetic parameters in leaves of two field-grown maize inbred lines and their F1 hybrid by Kocova, M.,Karlova Univ., Prague (Czech Republic). Prirodovedecka Fakulta, Rothova, O.,Karlova Univ., Prague (Czech Republic). Prirodovedecka Fakulta, Hola, D.,Karlova Univ., Prague (Czech Republic). Prirodovedecka Fakulta, Kvasnica, M.,Akademie Ved, Prague (Czech Republic). Ustav Organicke Chemie a Biochemie, Kohout, L.,Akademie Ved, Prague (Czech Republic). Ustav Organicke Chemie a Biochemie

“…The effect of foliar spray with 10-12 M aqueous solutions of 24-epibrassinolide or a synthetic androstane analogue of castasterone on the activity of…”
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Phenotypic variations in wolf-hirschhorn syndrome by Sukarova-Angelovska, E, Kocova, M, Sabolich, V, Palcevska, S, Angelkova, N

“…Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes…”
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The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations by Kocova, M., Sukarova-Angelovska, E., Kacarska, R., Maffei, P., Milan, G., Marshall, J.D.

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Phenotypic Variations in Wolfhirschhorn Syndrome by E, Sukarova-Angelovska, M, Kocova, V, Sabolich, S, Palcevska, N, Angelkova

“…Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes…”
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Insulin management and metabolic control of Type 1 diabetes mellitus in childhood and adolescence in 18 countries by Mortensen, H.B., Robertson, K.J., Aanstoot, H.-J., Danne, T., Holl, R.W., Hougaard, P., Atchison, J.A., Chiarelli, F., Daneman, D., Dinesen, B., Dorchy, H., Garandeau, P., Greene, S., Hoey, H., Kaprio, E.A., Kocova, M., Martul, P., Matsuura, N., Schoenle, E.J., Søvik, O., Swift, P.G.F., Tsou, R.M., Vanelli, M., Åman, J.

“…Insulin regimens and metabolic control in children and adolescents with Type 1 diabetes mellitus were evaluated in a cross‐sectional, non‐population‐based…”
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The Many Faces of Oral-Facial-Digital Syndrome by Sukarova-Angelovska, E, Angelkova, N, Palcevska-Kocevska, S, Kocova, M

“…The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On…”
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Systemic chimerism in human female recipients of male livers by Starzl, T E, Demetris, A J, Trucco, M, Ramos, H, Zeevi, A, Rudert, W A, Kocova, M, Ricordi, C, Ildstad, S, Murase, N

“…We have previously reported data from clinical and laboratory animal observations which suggest that organ tolerance after transplantation depends on a state…”
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Intron 2 Splice Mutation at CYP21 Gene in Patients with Congenital Adrenal Hyperplasia in the Republic of Macedonia by Anastasovska, V, Kocova, M

“…Intron 2 Splice Mutation at CYP21 Gene in Patients with Congenital Adrenal Hyperplasia in the Republic of Macedonia Congenital adrenal hyperplasia (CAH) is an…”
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