Detection of Pitt–Hopkins Syndrome Based on Morphological Facial Features by Elena D’Amato, Constantino Carlos Reyes-Aldasoro, Arianna Consiglio, Gabriele D’Amato, Maria Felicia Faienza, Marcella Zollino

Subjects: “…Pitt–Hopkins syndrome…”
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The Fecal Microbiome and Metabolome of Pitt Hopkins Syndrome, a Severe Autism Spectrum Disorder by Amanda H. Dilmore, Daniel McDonald, Tanya T. Nguyen, James B. Adams, Rosa Krajmalnik-Brown, Emmanuel Elijah, Pieter C. Dorrestein, Rob Knight

“…However, no study to date has characterized the gut microbiome or metabolome in Pitt Hopkins syndrome (PTHS), a severe ASD with a high incidence of gastrointestinal (GI) disturbances such as constipation. …”
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Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient by Florin Tripon, Alina Bogliș, Cristian Micheu, Ioana Streață, Claudia Bănescu

Subjects: “…Pitt-Hopkins syndrome…”
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Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report by N. G. Lyukshina

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Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study by Tingting Zhao, Shengnan Wu, Yiping Shen, Jing Leng, Georgi Z. Genchev, Hui Lu, Jincai Feng

Subjects: “…Pitt–Hopkins syndrome…”
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Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes by Alice Watkins, Stacey Bissell, Jo Moss, Chris Oliver, Jill Clayton-Smith, Lorraine Haye, Mary Heald, Alice Welham

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P452: A 33-year-old male diagnosed with Pitt-Hopkins syndrome: The spectrum broadens by Jeffrey Baek, Jayden Lee, Hua Wang

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Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of Tcf4 expression by Hyojin Kim, Eric B Gao, Adam Draper, Noah C Berens, Hanna Vihma, Xinyuan Zhang, Alexandra Higashi-Howard, Kimberly D Ritola, Jeremy M Simon, Andrew J Kennedy, Benjamin D Philpot

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Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome by Laura Tamberg, Mariliis Jaago, Kristi Säälik, Alex Sirp, Jürgen Tuvikene, Anastassia Shubina, Carl Sander Kiir, Kaja Nurm, Mari Sepp, Tõnis Timmusk, Mari Palgi

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Molecular Organization and Patterning of the Medulla Oblongata in Health and Disease by Dina Diek, Marten Piet Smidt, Simone Mesman

“…This schematic overview can further be used to help in the explanation of medulla-related symptoms of neurodevelopmental disorders, e.g., congenital central hypoventilation syndrome, Wold–Hirschhorn syndrome, Rett syndrome, and Pitt–Hopkins syndrome. Based on the genetic defects seen in these syndromes, we can use our model to predict which medullary nuclei might be affected, which can be used to quickly direct the research into these diseases to the likely affected nuclei.…”
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Expression of alternative transcription factor 4 mRNAs and protein isoforms in the developing and adult rodent and human tissues by Alex Sirp, Anastassia Shubina, Jürgen Tuvikene, Jürgen Tuvikene, Laura Tamberg, Carl Sander Kiir, Laura Kranich, Tõnis Timmusk, Tõnis Timmusk

“…Aberrations in the TCF4 gene are associated with several neurocognitive disorders such as schizophrenia, intellectual disability, post-traumatic stress disorder, depression, and Pitt-Hopkins Syndrome, a rare but severe autism spectrum disorder. …”
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