Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 320

1.

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. doi: 10.1136/jmg.2008.060129. Epub 2008 Aug 26.

PMID:
18728071
[PubMed - indexed for MEDLINE]
2.

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]
3.

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 Article
4.

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 Article
5.

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]
6.

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. doi: 10.1002/humu.20935.

PMID:
19235238
[PubMed - indexed for MEDLINE]
7.

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. doi: 10.1002/ajmg.a.32419.

PMID:
18627065
[PubMed - indexed for MEDLINE]
8.

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]
9.

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]
10.

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
11.

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]
12.

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. doi: 10.1002/humu.20859.

PMID:
18781613
[PubMed - indexed for MEDLINE]
13.

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]
Free Article
14.

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M.

Am J Med Genet A. 2003 Jun 15;119A(3):257-65.

PMID:
12784289
[PubMed - indexed for MEDLINE]
15.

Pitt-Hopkins Syndrome.

Peippo M, Ignatius J.

Mol Syndromol. 2012 Apr;2(3-5):171-180. Epub 2011 Dec 29.

PMID:
22670138
[PubMed]
Free PMC Article
16.

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]
17.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A.

Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a.

PMID:
19770472
[PubMed - indexed for MEDLINE]
18.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.

Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.

PMID:
16053902
[PubMed - indexed for MEDLINE]
19.

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V.

Am J Med Genet A. 2006 Jun 1;140(11):1223-7.

PMID:
16688751
[PubMed - indexed for MEDLINE]
20.

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]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk