These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 30677142)

  • 1. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
    Zollino M; Zweier C; Van Balkom ID; Sweetser DA; Alaimo J; Bijlsma EK; Cody J; Elsea SH; Giurgea I; Macchiaiolo M; Smigiel R; Thibert RL; Benoist I; Clayton-Smith J; De Winter CF; Deckers S; Gandhi A; Huisman S; Kempink D; Kruisinga F; Lamacchia V; Marangi G; Menke L; Mulder P; Nordgren A; Renieri A; Routledge S; Saunders CJ; Stembalska A; Van Balkom H; Whalen S; Hennekam RC
    Clin Genet; 2019 Apr; 95(4):462-478. PubMed ID: 30677142
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
    Bedeschi MF; Marangi G; Calvello MR; Ricciardi S; Leone FPC; Baccarin M; Guerneri S; Orteschi D; Murdolo M; Lattante S; Frangella S; Keena B; Harr MH; Zackai E; Zollino M
    Eur J Med Genet; 2017 Nov; 60(11):565-571. PubMed ID: 28807867
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.
    Goodspeed K; Newsom C; Morris MA; Powell C; Evans P; Golla S
    J Child Neurol; 2018 Mar; 33(3):233-244. PubMed ID: 29318938
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Fatal gastrointestinal complications in Pitt-Hopkins syndrome.
    Koppen IJN; Menke LA; Westra WM; Struik F; Mesman S; van Wijk MP; Huisman SA
    Am J Med Genet A; 2023 Mar; 191(3):855-858. PubMed ID: 36511359
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
    Marangi G; Ricciardi S; Orteschi D; Lattante S; Murdolo M; Dallapiccola B; Biscione C; Lecce R; Chiurazzi P; Romano C; Greco D; Pettinato R; Sorge G; Pantaleoni C; Alfei E; Toldo I; Magnani C; Bonanni P; Martinez F; Serra G; Battaglia D; Lettori D; Vasco G; Baroncini A; Daolio C; Zollino M
    Am J Med Genet A; 2011 Jul; 155A(7):1536-45. PubMed ID: 21671391
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.
    Thaxton C; Kloth AD; Clark EP; Moy SS; Chitwood RA; Philpot BD
    J Neurosci; 2018 Jan; 38(4):918-936. PubMed ID: 29222403
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.
    Tripon F; Bogliș A; Micheu C; Streață I; Bănescu C
    Genes (Basel); 2020 May; 11(6):. PubMed ID: 32481733
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A case of Pitt-hopkins Syndrome with de novo mutation in TCF4: Clinical features and treatment for epilepsy.
    Liu Y; Guo Y; Liu P; Li F; Yang C; Song J; Hu J; Xin D; Chen Z
    Int J Dev Neurosci; 2018 Jun; 67():51-54. PubMed ID: 29604340
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.
    Aldeeri AA; Abu-El-Haija A
    Am J Med Genet A; 2023 Apr; 191(4):1070-1076. PubMed ID: 36574749
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.
    Macchiaiolo M; Panfili FM; Gonfiantini MV; Mastrogiorgio G; Buonuomo PS; Gaspari S; Longo D; Zollino M; Bartuli A
    Am J Med Genet A; 2020 Nov; 182(11):2746-2750. PubMed ID: 32945094
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
    Mary L; Piton A; Schaefer E; Mattioli F; Nourisson E; Feger C; Redin C; Barth M; El Chehadeh S; Colin E; Coubes C; Faivre L; Flori E; Geneviève D; Capri Y; Perrin L; Fabre-Teste J; Timbolschi D; Verloes A; Olaso R; Boland A; Deleuze JF; Mandel JL; Gerard B; Giurgea I
    Eur J Hum Genet; 2018 Jul; 26(7):996-1006. PubMed ID: 29695756
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.
    Sparber P; Filatova A; Anisimova I; Markova T; Voinova V; Chuhrova A; Tabakov V; Skoblov M
    Eur J Med Genet; 2020 Dec; 63(12):104088. PubMed ID: 33069932
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of
    Kim H; Gao EB; Draper A; Berens NC; Vihma H; Zhang X; Higashi-Howard A; Ritola KD; Simon JM; Kennedy AJ; Philpot BD
    Elife; 2022 May; 11():. PubMed ID: 35535852
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
    Marangi G; Ricciardi S; Orteschi D; Tenconi R; Monica MD; Scarano G; Battaglia D; Lettori D; Vasco G; Zollino M
    Am J Med Genet A; 2012 Jul; 158A(7):1604-11. PubMed ID: 22678594
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Repurposing the Dihydropyridine Calcium Channel Inhibitor Nicardipine as a Na
    Ekins S; Puhl AC; Davidow A
    Pharm Res; 2020 Jun; 37(7):127. PubMed ID: 32529312
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Overlap of the Pitt-Hopkins and Lennox-Gastaut syndromes.
    Sulentic V; Petelin Gadze Z; Dapic Ivancic B; Mrak G; Borovecki F
    Acta Neurol Belg; 2020 Apr; 120(2):399-401. PubMed ID: 30426346
    [No Abstract]   [Full Text] [Related]  

  • 17. The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
    Popp B; Bienvenu T; Giurgea I; Metreau J; Kraus C; Reis A; Fischer J; Bralo MP; Tenorio-Castaño J; Lapunzina P; Almoguera B; Lopez-Grondona F; Sticht H; Zweier C
    Clin Genet; 2022 Dec; 102(6):517-523. PubMed ID: 35908153
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome.
    Chen HY; Bohlen JF; Maher BJ
    Dev Neurosci; 2021; 43(3-4):159-167. PubMed ID: 34134113
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
    Whalen S; Héron D; Gaillon T; Moldovan O; Rossi M; Devillard F; Giuliano F; Soares G; Mathieu-Dramard M; Afenjar A; Charles P; Mignot C; Burglen L; Van Maldergem L; Piard J; Aftimos S; Mancini G; Dias P; Philip N; Goldenberg A; Le Merrer M; Rio M; Josifova D; Van Hagen JM; Lacombe D; Edery P; Dupuis-Girod S; Putoux A; Sanlaville D; Fischer R; Drévillon L; Briand-Suleau A; Metay C; Goossens M; Amiel J; Jacquette A; Giurgea I
    Hum Mutat; 2012 Jan; 33(1):64-72. PubMed ID: 22045651
    [TBL] [Abstract][Full Text] [Related]  

  • 20. CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.
    Currò A; Doddato G; Bruttini M; Zollino M; Marangi G; Zappella M; Renieri A; Pinto AM
    Eur J Med Genet; 2021 Jan; 64(1):104102. PubMed ID: 33220470
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.