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About 150 results

ALLMedicine™ Pitt-Hopkins Syndrome Center

Research & Reviews  58 results

Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn.
https://doi.org/10.1002/jdn.10203
International Journal of Developmental Neuroscience : The... Tas M, Kurtulus M et. al.

Jun 17th, 2022 - Hypoxic-ischemic encephalopathy (HIE) is one of the substantial causes of developmental-cognitive disability in neonates. In this early period, it is difficult to diagnose accompanying or predisposing genetic diseases in HIE patients. Herein, we p...

Transcription Factor 4 loss-of-function is associated with deficits in progenitor proli...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9061776
Nature Communications; Papes F, Camargo AP et. al.

May 3rd, 2022 - Transcription Factor 4 (TCF4) has been associated with autism, schizophrenia, and other neuropsychiatric disorders. However, how pathological TCF4 mutations affect the human neural tissue is poorly understood. Here, we derive neural progenitor cel...

Disruption and deletion of the proximal part of TCF4 are associated with mild intellect...
https://doi.org/10.1016/j.ejmg.2022.104458
European Journal of Medical Genetics; Masson J, Pons L et. al.

Feb 22nd, 2022 - TCF4 gene (18q21.1) encodes for a transcription factor with multiple isoforms playing a critical role during neurodevelopment. Molecular alterations of this gene are associated with Pitt-Hopkins syndrome, a severe condition characterized by intell...

Safety & Efficacy of AlloRx SC® in PTHS Patients
https://clinicaltrials.gov/ct2/show/NCT05165017

Dec 21st, 2021 - This is a phase 1/2, randomized placebo controlled double blinded standard dose study to evaluate the safety and tolerability of AlloRx® stem cells in pediatric patients with a confirmed diagnosis of a TCF4 mutation consistent with haploinsufficie...

Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafa...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8514575
Nature Communications; Cleary CM, James S et. al.

Oct 15th, 2021 - Pitt-Hopkins syndrome (PTHS) is a rare autism spectrum-like disorder characterized by intellectual disability, developmental delays, and breathing problems involving episodes of hyperventilation followed by apnea. PTHS is caused by functional hapl...

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Clinicaltrials.gov  1 results

Safety & Efficacy of AlloRx SC® in PTHS Patients
https://clinicaltrials.gov/ct2/show/NCT05165017

Dec 21st, 2021 - This is a phase 1/2, randomized placebo controlled double blinded standard dose study to evaluate the safety and tolerability of AlloRx® stem cells in pediatric patients with a confirmed diagnosis of a TCF4 mutation consistent with haploinsufficie...

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News  1 results

Trio-CES produces higher molecular diagnostic yield
https://www.mdedge.com/hematology-oncology/article/186428/related-issues/trio-ces-produces-higher-molecular-diagnostic-yield
HT Staff

Oct 20th, 2014 - Audrey Lapidus with her son Calvin, who was diagnosed with Pitt-Hopkins Syndrome via trio-CES Credit: Lapidus family A 3-pronged approach to clinical exome sequencing (CES) can provide a higher diagnostic yield than traditional molecular diagnosti.

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