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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(1):12.PMID: 20205897 [PubMed]Free PMC ArticleFree textRelated citations

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG.

Hum Mol Genet. 2007 Jun 15;16(12):1488-94. Epub 2007 May 3.PMID: 17478476 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

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.PMID: 19938247 [PubMed - indexed for MEDLINE]Related citations

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A.

Am J Hum Genet. 2007 May;80(5):994-1001. Epub 2007 Mar 23.PMID: 17436255 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

TCF4 deletions in Pitt-Hopkins Syndrome.

Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Claude Lambert J, Philip N, Sarda P, Villard L, Goossens M, Moncla A.

Hum Mutat. 2008 Nov;29(11):E242-51.PMID: 18781613 [PubMed - indexed for MEDLINE]Related citations

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A.

J Med Genet. 2008 Nov;45(11):738-44. Epub 2008 Aug 26.PMID: 18728071 [PubMed - indexed for MEDLINE]Related citations

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

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

Clin Genet. 2010 Feb 10. [Epub ahead of print]PMID: 20184619 [PubMed - as supplied by publisher]Related citations

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.

Kalscheuer VM, Feenstra I, Van Ravenswaaij-Arts CM, Smeets DF, Menzel C, Ullmann R, Musante L, Ropers HH.

Am J Med Genet A. 2008 Aug 15;146A(16):2053-9.PMID: 18627065 [PubMed - indexed for MEDLINE]Related citations

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J.

Hum Mutat. 2009 Apr;30(4):669-76.PMID: 19235238 [PubMed - indexed for MEDLINE]Related citations

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L.

Am J Hum Genet. 2007 May;80(5):988-93. Epub 2007 Mar 23.PMID: 17436254 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

Andrieux J, Lepretre F, Cuisset JM, Goldenberg A, Delobel B, Manouvrier-Hanu S, Holder-Espinasse M.

Eur J Med Genet. 2008 Mar-Apr;51(2):172-7. Epub 2008 Jan 14.PMID: 18222743 [PubMed - indexed for MEDLINE]Related citations

MECP2-Related Disorders.

Christodoulou J, Ho G

In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
2001 Oct 3 [updated 2009 Apr 2].PMID: 20301670 [PubMed]Books & DocumentsFree textRelated citations

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. Epub 2010 Apr 26.PMID: 20421335 [PubMed - in process]Related citations

Joubert Syndrome.

Parisi M, Glass I

In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
2003 Jul 9 [updated 2007 Mar 8].PMID: 20301500 [PubMed]Books & DocumentsFree textRelated citations

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.PMID: 19728970 [PubMed - indexed for MEDLINE]Related citations

[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases]

Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, Barsi P, Karcagi V, Claes L, De Jonghe P, Herczegfalvi A, Fogarasi A.

Ideggyogy Sz. 2008 Nov 30;61(11-12):402-8. Hungarian. PMID: 19070316 [PubMed - indexed for MEDLINE]Related citations

Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome.

Van Balkom ID, Quartel S, Hennekam RC.

Am J Med Genet. 1998 Jan 23;75(3):273-6. Review.PMID: 9475596 [PubMed - indexed for MEDLINE]Related citations

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.

Pediatrics. 2001 Nov;108(5):E92.PMID: 11694676 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.PMID: 15121991 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

Sleep breathing and periodic leg movement pattern in Angelman Syndrome: a polysomnographic study.

Miano S, Bruni O, Elia M, Musumeci SA, Verrillo E, Ferri R.

Clin Neurophysiol. 2005 Nov;116(11):2685-92. Epub 2005 Oct 6.PMID: 16213786 [PubMed - indexed for MEDLINE]Related citations