|1.||Blake, Derek J: 4 articles (06/2014 - 05/2010)|
|2.||Zweier, Christiane: 3 articles (01/2011 - 05/2007)|
|3.||Bijlsma, Emilia K: 3 articles (01/2011 - 05/2007)|
|4.||Rauch, Anita: 3 articles (01/2011 - 05/2007)|
|5.||Sweatt, J David: 2 articles (10/2015 - 01/2013)|
|6.||Forrest, Marc P: 2 articles (06/2014 - 01/2013)|
|7.||Martin-Rendon, Enca: 2 articles (06/2014 - 01/2013)|
|8.||Zweier, C: 2 articles (01/2013 - 11/2008)|
|9.||Rauch, A: 2 articles (01/2013 - 11/2008)|
|10.||Tinsley, Caroline L: 2 articles (12/2012 - 05/2010)|
|1.||Pervasive Child Development Disorders
10/01/2012 - "The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with Pitt-Hopkins syndrome (PTHS), with specific attention to manifestations of autism spectrum disorder (ASD). "
10/01/2015 - "Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder, classified as an autism spectrum disorder that is caused by the haploinsufficiency of Transcription Factor 4 (TCF4). "
01/01/2013 - "TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. "
|2.||Mental Retardation (Idiocy)
06/01/2014 - "By contrast, rare TCF4 mutations cause Pitt-Hopkins syndrome, a disorder characterized by intellectual disability and developmental delay, and have also been described in patients with other neurodevelopmental disorders. "
01/01/2013 - "Haploinsufficiency of TCF4 causes Pitt-Hopkins syndrome (PTHS): a severe form of mental retardation with phenotypic similarities to Angelman, Mowat-Wilson and Rett syndromes. "
01/01/2013 - "Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription."
01/01/2013 - "Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, unusual face and breathing abnormalities and can be caused by haploinsufficiency of TCF4. "
07/01/2012 - "Missense, nonsense, frame-shift and splice-site mutations as well as translocations and large deletions encompassing TCF4 gene cause Pitt-Hopkins syndrome (PTHS), a rare developmental disorder characterized by severe motor and mental retardation, typical facial features and breathing anomalies. "
12/01/2013 - "A case of Pitt-Hopkins syndrome with absence of hyperventilation."
12/01/2012 - "Pitt-Hopkins syndrome is characterized by marked intellectual impairment, hyperventilation episodes, and dysmorphic facial features. "
07/01/2008 - "Hyperventilation and the Pitt-Hopkins syndrome."
05/01/2007 - "Pitt-Hopkins syndrome (PHS) is a rare syndromic encephalopathy characterized by daily bouts of hyperventilation and a facial gestalt. "
12/01/2013 - "We report a case of Pitt-Hopkins syndrome in a 2½-year-old boy presenting with psychomotor retardation, recurrent respiratory tract infections, and dysmorphic features with absence of hyperventilation or other breathing abnormalities. "
12/01/2012 - "Pitt-Hopkins syndrome (PTHS) is characterized by distinctive facial dysmorphism, profound intellectual disability, and the possible occurrence of epilepsy and breathing anomalies. "
11/01/2009 - "We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome. "
01/01/2010 - "Another possible diagnosis was the Pitt-Hopkins Syndrome (PHS), characterized by severe mental retardation, breathing anomalies (paroxisms of hyperpnea-apnea), dysmorphisms and sometimes epilepsy. "
08/15/2008 - "Only recently, mutations in this gene have been shown to result in Pitt-Hopkins syndrome (PHS), defined by severe MR, epilepsy, mild growth retardation, microcephaly, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth. "
11/01/2009 - "All patients have features consistent with Pitt-Hopkins syndrome, although only three have breathing anomalies, and none has seizures. "
11/01/2009 - "Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations."
12/01/2013 - "Pitt-Hopkins syndrome is a rare debilitating disease that should be in the differential diagnosis of other neurodevelopmental disorders characterized by mental retardation and hypotonicity despite the absence of hyperapnea and seizures. "
11/01/2009 - "Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, hyperventilation episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures. "
11/01/2009 - "Pitt-Hopkins syndrome is characterized by severe mental retardation, characteristic dysmorphic features, and susceptibility to childhood-onset seizures and intermittent episodes of hyperventilation. "
|1.||Transcription Factors (Transcription Factor)
|3.||Complementary DNA (cDNA)
|4.||Messenger RNA (mRNA)
|5.||4- ethoxymethylene- 2- phenyl- 2- oxazoline- 5- one (phOx)