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Items: 1 to 20 of 116

1.

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.

PMID:
22777675
2.
3.

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.

PMID:
22045651
4.

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
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. doi: 10.1002/ajmg.a.34070.

PMID:
21671391
6.

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.

PMID:
22678594
7.

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.

Rossi M, Labalme A, Cordier MP, Till M, Blanchard G, Dubois R, Guibaud L, Heissat S, Javouhey E, Lachaux A, Mure PY, Ville D, Edery P, Sanlaville D.

Am J Med Genet A. 2012 Dec;158A(12):3174-81. doi: 10.1002/ajmg.a.35588.

PMID:
23165966
8.

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.

PMID:
20184619
9.

A case of Pitt-Hopkins syndrome with absence of hyperventilation.

Inati A, Abbas HA, Korjian S, Daaboul Y, Harajeily M, Saab R.

J Child Neurol. 2013 Dec;28(12):1698-701. doi: 10.1177/0883073812468054.

PMID:
23248353
10.

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

Steinbusch CV, van Roozendaal KE, Tserpelis D, Smeets EE, Kranenburg-de Koning TJ, de Waal KH, Zweier C, Rauch A, Hennekam RC, Blok MJ, Schrander-Stumpel CT.

Clin Genet. 2013 Jan;83(1):73-7. doi: 10.1111/j.1399-0004.2012.01857.x.

PMID:
22335494
11.

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.

Kharbanda M, Kannike K, Lampe A, Berg J, Timmusk T, Sepp M.

Eur J Med Genet. 2016 Jun;59(6-7):310-4. doi: 10.1016/j.ejmg.2016.04.003.

PMID:
27132474
12.

Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.

Sweatt JD.

Exp Mol Med. 2013 May 3;45:e21. doi: 10.1038/emm.2013.32. Review.

13.

263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.

Kousoulidou L, Tanteles G, Moutafi M, Sismani C, Patsalis PC, Anastasiadou V.

Eur J Med Genet. 2013 Jun;56(6):314-8. doi: 10.1016/j.ejmg.2013.03.005.

PMID:
23528641
14.

Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing.

Sepp M, Kannike K, Eesmaa A, Urb M, Timmusk T.

PLoS One. 2011;6(7):e22138. doi: 10.1371/journal.pone.0022138.

15.

The emerging roles of TCF4 in disease and development.

Forrest MP, Hill MJ, Quantock AJ, Martin-Rendon E, Blake DJ.

Trends Mol Med. 2014 Jun;20(6):322-31. doi: 10.1016/j.molmed.2014.01.010. Review.

PMID:
24594265
16.

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.

17.

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.

18.

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.

19.

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.

PMID:
22383159
20.

Psychiatric Risk Gene Transcription Factor 4 Regulates Intrinsic Excitability of Prefrontal Neurons via Repression of SCN10a and KCNQ1.

Rannals MD, Hamersky GR, Page SC, Campbell MN, Briley A, Gallo RA, Phan BN, Hyde TM, Kleinman JE, Shin JH, Jaffe AE, Weinberger DR, Maher BJ.

Neuron. 2016 Apr 6;90(1):43-55. doi: 10.1016/j.neuron.2016.02.021.

PMID:
26971948

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