Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Giannoulia‐Karantana, Aglaia"'
Publikováno v:
In Pharmacological Research 2006 53(1):1-5
Context: In our neonatal program, a number of infants with congenital hypothyroidism (CH) had escaped diagnosis, when a spot RIA-TSH value of 20 mU/liter whole blood was used as a cutoff point. Objective: The objective of the study was to find out pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::372a8b0fd8e84a1562ce5166801004a8
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3146924
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3146924
A variety of techniques have been developed for screening the GJB2 gene for known and unknown mutations, especially the most common mutation in the Caucasian population, the c. 35delG. Other mutations that have been so far characterized in the GJB2 g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::9ade538e71d6a9df34b6b7ee6913caa4
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3145565
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3145565
One specific mutation of the GJB2 gene that encodes the connexin 26 protein, the 35delG mutation, has become a major interest among scientists who focus on the genetics of nonsyndromic hearing loss. The mutation accounts for the majority of GJB2 muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::a0dca4b346c1502b5210a3eb02752833
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3145563
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3145563
Hearing impairment is a frequent condition, and genes have an important role in its etiology. The majority of hearing loss occurs in non-syndromic form, with deafness being the only clinically recognizable feature. More than 60 nuclear genes or loci
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https://explore.openaire.eu/search/publication?articleId=od______2127::23700b6a258aad3683dcc5453b0560c6
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3145799
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3145799
Mitochondrial DNA mutations are undoubtedly a factor that contributes to sensorineural, non-syndromic deafness. One specific mutation, the A1555G, is associated with both aminoglycoside-induced and nonsyndromic hearing impairment. The mutation is con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::3afc81913cefd9dcd98023b6b6f6e1dd
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3144158
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3144158
Chromosomal aneuploidy consists the leading cause of fetal death in our species. Around 50% of spontaneous abortions until 15 weeks of gestational age are chromosomally aneuploid, with trisomies accounting for 50% of the abnormal abortions. Trisomy 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::066eadf1fd286ca9b9d4efe7cfe8e773
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3140955
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3140955
Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow han
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https://explore.openaire.eu/search/publication?articleId=od______2127::d077f1f3de8841acf1df5a088f227a1a
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3139743
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3139743
Melatonin is the main hormone secreted by the pineal gland in the human brain. It has a strong impact on the sleep- wake cycle and is considered a general modulator of the human circadian rhythm. Apart from these well- established properties, melaton
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::5b9be690ea2761de0093d72ee90b2e56
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3098417
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3098417
Vitamin D status in humans depends on the amount of sun exposure and vitamin D intake. Recent reports suggest that hypovitammosis D (as defined by serum 25-hydroxyvitamin D [25(OH)D] < 10 ng/mL) is reemerging in developed countries and in the Middle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::f47168ee6bd2b6b00d4d99a302298fef
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3115238
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3115238