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Select item 110877201.

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, Raissa Relator, Michael A. Levy, Slavica Trajkova, Sylvia A. Huisman, Emilia K. Bijlsma, Tjitske Kleefstra, Bregje W. van Bon, Özlem Baysal, Christiane Zweier, María Palomares-Bralo, Jan Fischer, Katalin Szakszon, Laurence Faivre, Amélie Piton, Simone Mesman, Ron Hochstenbach, Mariet W. Elting, Johanna M. van Hagen, Astrid S. Plomp, Marcel M.A.M. Mannens, Mariëlle Alders, Mieke M. van Haelst, Giovanni B. Ferrero, Alfredo Brusco, Peter Henneman, David A. Sweetser, Bekim Sadikovic, Antonio Vitobello, Leonie A. Menke

HGG Adv. 2024 Jul 18; 5(3): 100289. Published online 2024 Apr 2. doi: 10.1016/j.xhgg.2024.100289

PMCID:: PMC11087720

Abstract Article PDF–5.1M

Select item 110842552.

From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning

Marlena Telenga, Anna Rozensztrauch, Kaja Giżewska-Kacprzak, Robert Śmigiel

J Clin Med. 2024 May; 13(9): 2605. Published online 2024 Apr 29. doi: 10.3390/jcm13092605

PMCID:: PMC11084255

Abstract Article PDF–241K

Select item 108515723.

Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study

Tingting Zhao, Shengnan Wu, Yiping Shen, Jing Leng, Georgi Z. Genchev, Hui Lu, Jincai Feng

Orphanet J Rare Dis. 2024; 19: 51. Published online 2024 Feb 8. doi: 10.1186/s13023-024-03055-7

PMCID:: PMC10851572

Abstract Article PDF–1.0M

Select item 103934064.

Promyelinating drugs promote functional recovery in an autism spectrum disorder mouse model of Pitt–Hopkins syndrome

Joseph F Bohlen, Colin M Cleary, Debamitra Das, Srinidhi Rao Sripathy, Norah Sadowski, Gina Shim, Rakaia F Kenney, Ingrid P Buchler, Tapasree Banerji, Thomas S Scanlan, Daniel K Mulkey, Brady J Maher

Brain. 2023 Aug; 146(8): 3331–3346. Published online 2023 Apr 18. doi: 10.1093/brain/awad057

PMCID:: PMC10393406

Abstract Article PDF–1.7M

Select item 101085665.

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

Bernt Popp, Thierry Bienvenu, Irina Giurgea, Julia Metreau, Cornelia Kraus, André Reis, Jan Fischer, María Palomares Bralo, Jair Tenorio‐Castaño, Pablo Lapunzina, Berta Almoguera, Fermina Lopez‐Grondona, Heinrich Sticht, Christiane Zweier

Clin Genet. 2022 Dec; 102(6): 517–523. Published online 2022 Aug 16. doi: 10.1111/cge.14206

PMCID:: PMC10108566

Abstract Article PDF–3.3M

Select item 98127666.

Evaluation of Na_v1.8 as a therapeutic target for Pitt Hopkins Syndrome

Keri Martinowich, Debamitra Das, Srinidhi Rao Sripathy, Yishan Mai, Rakaia F. Kenney, Brady J. Maher

Mol Psychiatry. 2023; 28(1): 76–82. Published online 2022 Oct 12. doi: 10.1038/s41380-022-01811-4

PMCID:: PMC9812766

Abstract Article PDF–1.9M

Select item 97915057.

Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia: Two case reports

Ying Huang, Yue Di, Xiao-Xiao Zhang, Xin-Yue Li, Wang-Yi Fang, Tong Qiao

World J Clin Cases. 2022 Dec 6; 10(34): 12734–12741. Published online 2022 Dec 6. doi: 10.12998/wjcc.v10.i34.12734

PMCID:: PMC9791505

Abstract Article PDF–13M

Select item 90165668.

A Case Report of Topiramate for Severe Breath Holding Spells in a Teenage Boy with Pitt-Hopkins Syndrome

Megan Bone, Kimberly Goodspeed

Child Neurol Open. 2022 Jan-Dec; 9: 2329048X221093172. Published online 2022 Apr 13. doi: 10.1177/2329048X221093172

PMCID:: PMC9016566

Abstract Article PDF–767K

Select item 86488409.

Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia

Alex Sirp, Kaisa Roots, Kaja Nurm, Jürgen Tuvikene, Mari Sepp, Tõnis Timmusk

J Biol Chem. 2021 Dec; 297(6): 101381. Published online 2021 Nov 6. doi: 10.1016/j.jbc.2021.101381

PMCID:: PMC8648840

Abstract Article PDF–2.9M

Select item 863131410.

The Fecal Microbiome and Metabolome of Pitt Hopkins Syndrome, a Severe Autism Spectrum Disorder

Amanda H. Dilmore, Daniel McDonald, Tanya T. Nguyen, James B. Adams, Rosa Krajmalnik-Brown, Emmanuel Elijah, Pieter C. Dorrestein, Rob Knight

mSystems. 2021 Nov-Dec; 6(6): e01006-21. Published online 2021 Nov 30. doi: 10.1128/mSystems.01006-21

PMCID:: PMC8631314

Abstract Article PDF–1.1M

Select item 844035511.

Molecular and Cellular Function of TCF4 in Pitt-Hopkins Syndrome

Huei-Ying Chen, Joseph F. Bohlen, Brady J. Maher

Dev Neurosci. Author manuscript; available in PMC 2022 Jun 16.

Published in final edited form as: Dev Neurosci. 2021; 43(3-4): 159–167. Published online 2021 Jun 16. doi: 10.1159/000516666

PMCID:: PMC8440355

Abstract Article PDF–511K

Select item 759208412.

Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome

S.R. Sripathy, Y. Wang, R.L. Moses, A. Fatemi, D.A. Batista, B.J. Maher

Stem Cell Res. Author manuscript; available in PMC 2020 Oct 28.

Published in final edited form as: Stem Cell Res. 2020 Oct; 48: 102001. Published online 2020 Sep 17. doi: 10.1016/j.scr.2020.102001

PMCID:: PMC7592084

Abstract Article PDF–988K

Select item 734926213.

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient

Florin Tripon, Alina Bogliș, Cristian Micheu, Ioana Streață, Claudia Bănescu

Genes (Basel) 2020 Jun; 11(6): 596. Published online 2020 May 28. doi: 10.3390/genes11060596

PMCID:: PMC7349262

Abstract Article PDF–1.4M

Select item 706595514.

BaDoi N. Phan, Joseph F. Bohlen, Brittany A. Davis, Zengyou Ye, Huei-Ying Chen, Brent Mayfield, Srinidhi Rao Sripathy, Stephanie Cerceo Page, Morganne N. Campbell, Hannah L. Smith, Danisha Gallop, Hyojin Kim, Courtney L. Thaxton, Jeremy M. Simon, Emily E. Burke, Joo Heon Shin, Andrew J. Kennedy, J. David Sweatt, Benjamin D. Philpot, Andrew E. Jaffe, Brady J. Maher

Nat Neurosci. Author manuscript; available in PMC 2020 Aug 3.

Published in final edited form as: Nat Neurosci. 2020 Mar; 23(3): 375–385. Published online 2020 Feb 3. doi: 10.1038/s41593-019-0578-x

PMCID:: PMC7065955

Abstract Article PDF–4.7M

Select item 681425815.

Repurposing Approved Drugs as Inhibitors of K_v7.1 and Na_v1.8 To Treat Pitt Hopkins Syndrome

Sean Ekins, Jacob Gerlach, Kimberley M. Zorn, Brett M. Antonio, Zhixin Lin, Aaron Gerlach

Pharm Res. Author manuscript; available in PMC 2020 Jul 22.

Published in final edited form as: Pharm Res. 2019 Jul 22; 36(9): 137. Published online 2019 Jul 22. doi: 10.1007/s11095-019-2671-y

PMCID:: PMC6814258

Abstract Article PDF–980K

Select item 677836416.

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

Alice Watkins, Stacey Bissell, Jo Moss, Chris Oliver, Jill Clayton-Smith, Lorraine Haye, Mary Heald, Alice Welham

J Neurodev Disord. 2019; 11: 24. Published online 2019 Oct 5. doi: 10.1186/s11689-019-9282-0

PMCID:: PMC6778364

Abstract Article PDF–717K

Select item 637696017.

Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome

Matthew D. Rannals, Brady J. Maher

Curr Genet Med Rep. Author manuscript; available in PMC 2019 Feb 15.

Published in final edited form as: Curr Genet Med Rep. 2017 Mar; 5(1): 1–7. Published online 2017 Feb 11. doi: 10.1007/s40142-017-0110-0

PMCID:: PMC6376960

Abstract Article PDF–314K

Select item 592226518.

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series

Kimberly Goodspeed, Cassandra Newsom, Mary Ann Morris, Craig Powell, Patricia Evans, Sailaja Golla

J Child Neurol. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: J Child Neurol. 2018 Mar; 33(3): 233–244. Published online 2018 Jan 10. doi: 10.1177/0883073817750490

PMCID:: PMC5922265

Abstract Article PDF–2.1M

Select item 558244519.

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4

Krista M. Hennig, Daniel M. Fass, Wen-Ning Zhao, Steven D. Sheridan, Ting Fu, Serkan Erdin, Alexei Stortchevoi, Diane Lucente, Jannine D. Cody, David Sweetser, James F. Gusella, Michael E. Talkowski, Stephen J. Haggarty

Mol Neuropsychiatry. 2017 Jul; 3(1): 53–71. Published online 2017 Jul 14. doi: 10.1159/000475666

PMCID:: PMC5582445

Abstract Article PDF–585K

Select item 530696920.

Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome

Alessandro Aquino, Mattia Perini, Silvia Cosmai, Silvia Zanon, Viviana Pisa, Carmine Castagna, Stefano Uberti

Case Rep Pediatr. 2017; 2017: 5437830. Published online 2017 Jan 31. doi: 10.1155/2017/5437830

PMCID:: PMC5306969

Abstract Article PDF–524K

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