20205897

Source:http://linkedlifedata.com/resource/pubmed/id/20205897

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0596611, umls-concept:C0684224, umls-concept:C1420639, umls-concept:C1533148, umls-concept:C1970431
pubmed:dateCreated	2010-3-8
pubmed:abstractText	We will discuss the clinical and genetic diagnosis of a child with severe psychomotor delay, who at 3 years of age presented with paroxysms of hyperpnea-apnea and seizures unrelated to breathing anomalies.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-11568923, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-16531728, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-17436255, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-17478476, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-18222743, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-18627065, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-18728071, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-18781613, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-19235238, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-728011, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-8489799, http://linkedlifedata.com/resource/pubmed/commentcorrection/20205897-9475596
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/101510759
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Basic Helix-Loop-Helix Leucine..., http://linkedlifedata.com/resource/pubmed/chemical/DNA, http://linkedlifedata.com/resource/pubmed/chemical/TCF4 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
pubmed:status	MEDLINE
pubmed:issn	1824-7288
pubmed:author	pubmed-author:BonuccelliAliceA, pubmed-author:MantellassiIlariaI, pubmed-author:OrsiniAlessandroA, pubmed-author:TaddeucciGraziaG, pubmed-author:TarantinoEnricoE
pubmed:issnType	Electronic
pubmed:volume	36
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	12
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:20205897-Abnormalities, Multiple, pubmed-meshheading:20205897-Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, pubmed-meshheading:20205897-Child, Preschool, pubmed-meshheading:20205897-DNA, pubmed-meshheading:20205897-Diagnosis, Differential, pubmed-meshheading:20205897-Electroencephalography, pubmed-meshheading:20205897-Face, pubmed-meshheading:20205897-Haplotypes, pubmed-meshheading:20205897-Humans, pubmed-meshheading:20205897-Hyperventilation, pubmed-meshheading:20205897-Intellectual Disability, pubmed-meshheading:20205897-Language Development Disorders, pubmed-meshheading:20205897-Magnetic Resonance Imaging, pubmed-meshheading:20205897-Male, pubmed-meshheading:20205897-Mutation, pubmed-meshheading:20205897-Sequence Analysis, DNA, pubmed-meshheading:20205897-Syndrome, pubmed-meshheading:20205897-Transcription Factors
pubmed:year	2010
pubmed:articleTitle	Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.
pubmed:affiliation	Department of Procreation Medicine and Developmental Age, Section of Paediatric Neurology, University of Pisa, Italy. g.taddeucci@clp.med.unipi.it
pubmed:publicationType	Letter, Case Reports