About: Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease

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About: Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://www.ncbi.nlm.nih.gov/pubmed/25275257
Description	Amelogenesis imperfecta (AI) is an overarching term for a group of rare inherited disorders of hard tooth tissues. It is characterized by various defects in proper enamel formation. AI is a severe disorder that affects both the aesthetics and function of the dentition, with affected teeth increasingly suffering from dental caries. Therefore, early diagnosis and lifelong stomatological interventions are important. Due to the complex nature of AI family history, stomatological, radiographic, and molecular genetic examinations should be part of the diagnostic portfolio. Additionally, we utilized new visualization methods for the assessment of teeth demineralization. We present a case report of two affected Czech sisters (6 and 8 years old) with clinically defined AI. These are the first Czech cases in which comprehensive clinical and genetic analysis had been carried out and reflect the complex clinical nature, positive treatment options, and limitations of candidate-gene molecular genetic testing. Amelogenesis imperfecta (AI) is an overarching term for a group of rare inherited disorders of hard tooth tissues. It is characterized by various defects in proper enamel formation. AI is a severe disorder that affects both the aesthetics and function of the dentition, with affected teeth increasingly suffering from dental caries. Therefore, early diagnosis and lifelong stomatological interventions are important. Due to the complex nature of AI family history, stomatological, radiographic, and molecular genetic examinations should be part of the diagnostic portfolio. Additionally, we utilized new visualization methods for the assessment of teeth demineralization. We present a case report of two affected Czech sisters (6 and 8 years old) with clinically defined AI. These are the first Czech cases in which comprehensive clinical and genetic analysis had been carried out and reflect the complex clinical nature, positive treatment options, and limitations of candidate-gene molecular genetic testing. (en)
Title	Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease (en)
skos:prefLabel	Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease (en)
skos:notation	RIV/00216208:11130/14:10293169!RIV15-MSM-11130___
http://linked.open...avai/riv/aktivita	I
http://linked.open...avai/riv/aktivity	I
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Krulišová, Veronika Kripnerová, Tereza Macek jr., Milan Dostálová, Taťjána Ptáková, Nikola
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	8366
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/14:10293169
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	exome sequencing; oculo-dental syndrome (Jalili syndrome); Heimler syndrome; amelo-cerebro-hypohidrotic syndrome (Kohlsch-Tonz syndrome); amelogenesis imperfecta; candidate genes; genetic testing; stomatology (en)
http://linked.open.../riv/klicoveSlovo	stomatology amelogenesis imperfecta exome sequencing candidate genes genetic testing Heimler syndrome amelo-cerebro-hypohidrotic syndrome (Kohlsch-Tonz syndrome) oculo-dental syndrome (Jalili syndrome)
http://linked.open...odStatuVydavatele	SE - Švédské království
http://linked.open...ontrolniKodProRIV	[65BDF617450D]
http://linked.open...i/riv/nazevZdroje	Neuroendocrinology Letters
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	35
http://linked.open...iv/tvurceVysledku	Dostálová, Taťjána Macek, Milan Krulišová, Veronika Kripnerová, Tereza Ptáková, Nikola
http://linked.open...ain/vavai/riv/wos	000349383900003
issn	0172-780X
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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