Zobrazeno 1 - 10
of 337
pro vyhledávání: '"M. Kocova"'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 17, Iss 1, Pp 31-35 (2014)
Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation in children. Diagnosis is difficult at birth without neonatal screening. Neonatal thyroid screening was established in Prilep, Republic of Macedonia as an integ
Externí odkaz:
https://doaj.org/article/9120797807324affab05bd77449ece61
Publikováno v:
Balkan Journal of Medical Genetics, Vol 17, Iss 1, Pp 23-30 (2014)
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic “Greek helmet” like face, seiz
Externí odkaz:
https://doaj.org/article/9e9e381a33cb4958a0486082c7bf8e32
Autor:
J. Svensson, E. H. Ibfelt, B. Carstensen, A. Neu, O. Cinek, T. Skrivarhaug, B. Rami-Merhar, R. G. Feltbower, C. Castell, D. Konrad, K. Gillespie, P. Jarosz-Chobot, D. Marčiulionytė, J. Rosenbauer, N. Bratina, C. Ionescu-Tirgoviste, F. Gorus, M. Kocova, C. de Beaufort, C. C. Patterson
AIMS: Specific patterns in incidence may reveal environmental explanations for type 1 diabetes incidence. We aimed to study type 1 diabetes incidence in European childhood populations to assess whether an increase could be attributed to either period
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::587ec8419c6878e130c95c656a39f4d4
https://hdl.handle.net/20.500.14017/f557b9af-c6f8-4f9f-95e9-14b18cc42e42
https://hdl.handle.net/20.500.14017/f557b9af-c6f8-4f9f-95e9-14b18cc42e42
Autor:
J, Svensson, E H, Ibfelt, B, Carstensen, A, Neu, O, Cinek, T, Skrivarhaug, B, Rami-Merhar, R G, Feltbower, C, Castell, D, Konrad, K, Gillespie, P, Jarosz-Chobot, D, Marčiulionytė, J, Rosenbauer, N, Bratina, C, Ionescu-Tirgoviste, F, Gorus, M, Kocova, C, de Beaufort, C C, Patterson
Publikováno v:
Acta diabetologica. 60(1)
Specific patterns in incidence may reveal environmental explanations for type 1 diabetes incidence. We aimed to study type 1 diabetes incidence in European childhood populations to assess whether an increase could be attributed to either period or co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::44cf19811ea1ddcf901e41a9cd7cd3a6
https://pubmed.ncbi.nlm.nih.gov/36205797
https://pubmed.ncbi.nlm.nih.gov/36205797
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 69-76 (2019)
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics : BJMG
Steroid 5-α-reductase-2 (5-ARD) deficiency is a result of mutations of the SRD5A2 gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals with a variable genital phenotype. We present two siblings with female external genit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6db9ea7f3dd20f718df3f47a596337a
https://doaj.org/article/fcb73ea3025b415780ed35574c63f7ae
https://doaj.org/article/fcb73ea3025b415780ed35574c63f7ae
Autor:
M Kocova
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 5-15 (2021)
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 5-15 (2021)
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 forms of multi-factorial or polygenic diabetes. Clinically, this form is extremely severe,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb6dda11dcdb75848506b376edab037
https://pubmed.ncbi.nlm.nih.gov/33816067
https://pubmed.ncbi.nlm.nih.gov/33816067
Autor:
T. Hristova-Dimkovska, M. Kocova, E. Sukarova-Angelovska, G. Ilieva, E. Sukarova-Stefanovska, S. Kostadinova-Kunovska
Publikováno v:
Journal of Fetal Medicine. :133-137
Reciprocal chromosomal rearrangements, de novo or inherited, often raise a concern about the foetal health and outcome of the affected pregnancies. The size and origin of the translocated chromosomes could be variable. Cryptic translocations often re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf3df5f6419fbfb3bd263b106b99f194
https://doi.org/10.1007/s40556-018-0161-7
https://doi.org/10.1007/s40556-018-0161-7
Akademický článek
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Publikováno v:
Diabetes Research and Clinical Practice. 130:86-89
We present a boy with mild hyperglycemia detected during an upper respiratory infection. Novel splicing mutation in the intron 1 of the GCK gene (c.45+1G>A) was detected, and was subsequently confirmed in his father. This is the first case of genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cecf5fde36e157e73a779cacfcf4992
https://doi.org/10.1016/j.diabres.2017.04.001
https://doi.org/10.1016/j.diabres.2017.04.001
Autor:
Marco Ritelli, Marina Colombi, S Prijic, Chiara Dordoni, M Kocova, M Lazareska, R Kacarska, K Kuzevska-Maneva
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 47-52 (2018)
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 47-52 (2018)
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 (SLC2A10) gene encoding a glucose/ascorbic acid transporter. The clinical features of ATS are mild-to-severe tortuo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f4a78e4f9798e205c6c8b60996bceb
http://hdl.handle.net/11379/514067
http://hdl.handle.net/11379/514067