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    Results: 1 to 20 of 29

    1.

    Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.

    Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K.

    Am J Med Genet A. 2012 Oct;158A(10):2621-3. doi: 10.1002/ajmg.a.35230. Epub 2012 Aug 10. No abstract available.

    PMID:
    22887345
    [PubMed - indexed for MEDLINE]
    2.

    Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.

    Forrest M, Chapman RM, Doyle AM, Tinsley CL, Waite A, Blake DJ.

    Hum Mutat. 2012 Dec;33(12):1676-86. doi: 10.1002/humu.22160. Epub 2012 Jul 27.

    PMID:
    22777675
    [PubMed - indexed for MEDLINE]
    3.

    Development, cognition, and behaviour in Pitt-Hopkins syndrome.

    Van Balkom ID, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC.

    Dev Med Child Neurol. 2012 Oct;54(10):925-31. doi: 10.1111/j.1469-8749.2012.04339.x. Epub 2012 Jun 19. Review.

    PMID:
    22712893
    [PubMed - indexed for MEDLINE]
    4.

    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. doi: 10.1002/ajmg.a.35419. Epub 2012 Jun 7.

    PMID:
    22678594
    [PubMed - indexed for MEDLINE]
    5.

    Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.

    Sepp M, Pruunsild P, Timmusk T.

    Hum Mol Genet. 2012 Jul 1;21(13):2873-88. doi: 10.1093/hmg/dds112. Epub 2012 Mar 28.

    PMID:
    22460224
    [PubMed - indexed for MEDLINE]
    6.

    Acetazolamide for severe apnea in Pitt-Hopkins syndrome.

    Verhulst SL, De Dooy J, Ramet J, Bockaert N, Van Coster R, Ceulemans B, De Backer W.

    Am J Med Genet A. 2012 Apr;158A(4):932-4. doi: 10.1002/ajmg.a.35247. Epub 2012 Mar 9. No abstract available.

    PMID:
    22407847
    [PubMed - indexed for MEDLINE]
    7.

    Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome.

    Armani R, Archer H, Clarke A, Vasudevan P, Zweier C, Ho G, Williamson S, Cloosterman D, Yang N, Christodoulou J.

    Am J Med Genet A. 2012 Apr;158A(4):713-9. doi: 10.1002/ajmg.a.34206. Epub 2012 Mar 1.

    PMID:
    22383159
    [PubMed - indexed for MEDLINE]
    8.

    Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome.

    Maini I, Cantalupo G, Turco EC, De Paolis F, Magnani C, Parrino L, Terzano MG, Pisani F.

    J Child Neurol. 2012 Dec;27(12):1585-8. doi: 10.1177/0883073811435917. Epub 2012 Feb 28.

    PMID:
    22378662
    [PubMed - indexed for MEDLINE]
    9.

    Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders.

    Ghosh PS, Friedman NR, Ghosh D.

    J Child Neurol. 2012 Dec;27(12):1602-6. doi: 10.1177/0883073812437242. Epub 2012 Feb 28.

    PMID:
    22378661
    [PubMed - indexed for MEDLINE]
    10.

    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. doi: 10.1002/humu.21639. Epub 2011 Nov 23.

    PMID:
    22045651
    [PubMed - indexed for MEDLINE]
    11.

    Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.

    Takano K, Tan WH, Irons MB, Jones JR, Schwartz CE.

    Clin Genet. 2011 Dec;80(6):600-1. doi: 10.1111/j.1399-0004.2011.01711.x. No abstract available.

    PMID:
    22040220
    [PubMed - indexed for MEDLINE]
    12.

    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

    Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C.

    BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106.

    PMID:
    21827697
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    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. doi: 10.1002/ajmg.a.34070. Epub 2011 Jun 10.

    PMID:
    21671391
    [PubMed - indexed for MEDLINE]
    14.

    Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.

    Lehalle D, Williams C, Siu VM, Clayton-Smith J.

    Am J Med Genet A. 2011 Jul;155A(7):1685-9. doi: 10.1002/ajmg.a.34055. Epub 2011 Jun 10.

    PMID:
    21671383
    [PubMed - indexed for MEDLINE]
    15.

    Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model.

    Brockschmidt A, Filippi A, Charbel Issa P, Nelles M, Urbach H, Eter N, Driever W, Weber RG.

    Hum Genet. 2011 Nov;130(5):645-55. doi: 10.1007/s00439-011-0999-4. Epub 2011 May 5.

    PMID:
    21544580
    [PubMed - indexed for MEDLINE]
    16.

    Mosaic microdeletion 18q21 as a cause of mental retardation.

    Stavropoulos DJ, MacGregor DL, Yoon G.

    Eur J Med Genet. 2010 Nov-Dec;53(6):396-9. doi: 10.1016/j.ejmg.2010.08.005. Epub 2010 Sep 21.

    PMID:
    20813211
    [PubMed - indexed for MEDLINE]
    17.

    TCF4, schizophrenia, and Pitt-Hopkins Syndrome.

    Blake DJ, Forrest M, Chapman RM, Tinsley CL, O'Donovan MC, Owen MJ.

    Schizophr Bull. 2010 May;36(3):443-7. doi: 10.1093/schbul/sbq035. Epub 2010 Apr 26.

    PMID:
    20421335
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

    Taddeucci G, Bonuccelli A, Mantellassi I, Orsini A, Tarantino E.

    Ital J Pediatr. 2010 Feb 2;36:12. doi: 10.1186/1824-7288-36-12.

    PMID:
    20205897
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.

    Takano K, Lyons M, Moyes C, Jones J, Schwartz CE.

    Clin Genet. 2010 Sep;78(3):282-8. doi: 10.1111/j.1399-0004.2010.01380.x. Epub 2010 Feb 10.

    PMID:
    20184619
    [PubMed - indexed for MEDLINE]
    20.

    Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.

    Rosenfeld JA, Leppig K, Ballif BC, Thiese H, Erdie-Lalena C, Bawle E, Sastry S, Spence JE, Bandholz A, Surti U, Zonana J, Keller K, Meschino W, Bejjani BA, Torchia BS, Shaffer LG.

    Genet Med. 2009 Nov;11(11):797-805. doi: 10.1097/GIM.0b013e3181bd38a9.

    PMID:
    19938247
    [PubMed - indexed for MEDLINE]

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