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Results: 1 to 20 of 39

PubMed Links for Books (Select 2972912)

1.

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
2.

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
3.

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
4.

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
5.

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. Epub 2012 Mar 15.

PMID:
22335494
6.

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
7.

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
8.

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.

Harrison V, Connell L, Hayesmoore J, McParland J, Pike MG, Blair E.

Am J Med Genet A. 2011 Nov;155A(11):2826-31. doi: 10.1002/ajmg.a.34255. Epub 2011 Sep 30.

PMID:
21964664
9.

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. Epub 2011 Jul 15.

10.

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
11.

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
12.

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
13.

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.

14.

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
15.

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
16.

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A.

Am J Hum Genet. 2009 Nov;85(5):655-66. doi: 10.1016/j.ajhg.2009.10.004. Epub 2009 Nov 5.

17.

Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).

Kato Z, Morimoto W, Kimura T, Matsushima A, Kondo N.

Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):132-5. doi: 10.1002/bdra.20633.

PMID:
19813260
18.

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.

Demos MK, Fullston T, Partington MW, Gécz J, Gibson WT.

Am J Med Genet A. 2009 Jul;149A(7):1482-6. doi: 10.1002/ajmg.a.32851.

PMID:
19507262
19.

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
20.

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
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