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rdf:type |
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lifeskim:mentions |
umls-concept:C0000768,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0243070,
umls-concept:C0348014,
umls-concept:C0392747,
umls-concept:C0443172,
umls-concept:C1414668,
umls-concept:C1418596,
umls-concept:C1707513,
umls-concept:C2827424
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pubmed:issue |
1
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pubmed:dateCreated |
2011-1-24
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pubmed:abstractText |
Anterior segment dysgenesis (ASD) comprises a heterogeneous group of developmental abnormalities that affect several structures of the anterior segment of the eye. The main purpose of this study was to assess the proportion of FOXC1 and PITX2 mutations and copy number changes in 80 probands with ASD.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1552-5783
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pubmed:author |
pubmed-author:ArensYvonne HYH,
pubmed-author:CasteelsIngeleI,
pubmed-author:ClaerhoutIlseI,
pubmed-author:D'haeneBarbaraB,
pubmed-author:De BaereElfrideE,
pubmed-author:De JaegereSarahS,
pubmed-author:De PaepeAnneA,
pubmed-author:GiltayJacquesJ,
pubmed-author:HoogheSallyS,
pubmed-author:KestelynPhilippeP,
pubmed-author:KroesHester YHY,
pubmed-author:LeroyBart PBP,
pubmed-author:MeireFrançoiseF,
pubmed-author:MentenBjörnB,
pubmed-author:OldenburgRogier ARA,
pubmed-author:PlompAstridA,
pubmed-author:RoulezFrançoiseF,
pubmed-author:Veenstra-KnolHermine EHE,
pubmed-author:VerheijJohanna B G MJB,
pubmed-author:WuytsWimW,
pubmed-author:de FaberJan-TjeerdJT,
pubmed-author:de RavelThomyT,
pubmed-author:van den EndeJennekeJ
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pubmed:issnType |
Electronic
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
324-33
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pubmed:dateRevised |
2011-3-4
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pubmed:meshHeading |
pubmed-meshheading:20881294-3' Untranslated Regions,
pubmed-meshheading:20881294-Adolescent,
pubmed-meshheading:20881294-Adult,
pubmed-meshheading:20881294-Anterior Eye Segment,
pubmed-meshheading:20881294-Child,
pubmed-meshheading:20881294-Child, Preschool,
pubmed-meshheading:20881294-Eye Abnormalities,
pubmed-meshheading:20881294-Female,
pubmed-meshheading:20881294-Forkhead Transcription Factors,
pubmed-meshheading:20881294-Gene Dosage,
pubmed-meshheading:20881294-Homeodomain Proteins,
pubmed-meshheading:20881294-Humans,
pubmed-meshheading:20881294-Male,
pubmed-meshheading:20881294-Middle Aged,
pubmed-meshheading:20881294-Mitochondrial Proteins,
pubmed-meshheading:20881294-Mutation,
pubmed-meshheading:20881294-Nucleic Acid Amplification Techniques,
pubmed-meshheading:20881294-Polymerase Chain Reaction,
pubmed-meshheading:20881294-Transcription Factors
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pubmed:year |
2011
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pubmed:articleTitle |
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
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pubmed:affiliation |
Center for Medical Genetics, Department of Ophthalmology, Ghen University Hospital, Ghent, Belgium.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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