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Items: 10

1.

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
2.

Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation.

Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D.

Am J Med Genet A. 2005 Aug 1;136A(4):390-4. Review.

PMID:
16007608
3.

Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective.

Quednow BB, Brzózka MM, Rossner MJ.

Cell Mol Life Sci. 2014 Aug;71(15):2815-35. doi: 10.1007/s00018-013-1553-4. Epub 2014 Jan 12. Review.

PMID:
24413739
4.

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.

5.

Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature.

Fernández-Jaén A, Fernández-Mayoralas DM, Calleja-Pérez B, Muñoz-Jareño N, Moreno N.

Pediatr Neurol. 2009 Jan;40(1):58-62. doi: 10.1016/j.pediatrneurol.2008.10.001. Review.

PMID:
19068257
6.

Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism.

Avina Fierro JA, Avina DA.

J Pediatr Genet. 2014 Sep;3(3):141-5. doi: 10.3233/PGE-14094. Review.

7.

Early development of occipital horns in a classical Menkes patient.

Gérard-Blanluet M, Birk-Møller L, Caubel I, Gélot A, Billette de Villemeur T, Horn N.

Am J Med Genet A. 2004 Oct 1;130A(2):211-3. Review. No abstract available. Erratum in: Am J Med Genet A. 2005 Apr 30;134(3):346.

PMID:
15372525
8.

Hyperventilation and the Pitt-Hopkins syndrome.

Ouvrier R.

Dev Med Child Neurol. 2008 Jul;50(7):481. doi: 10.1111/j.1469-8749.2008.03022.x. Review. No abstract available.

9.

Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.

Marangi G, Zollino M.

J Pediatr Genet. 2015 Sep;4(3):168-76. doi: 10.1055/s-0035-1564570. Epub 2015 Sep 25. Review.

10.

Further case of metaphyseal acroscyphodysplasia with cone-shaped epiphyses (Bellini disease or metaphyseal dyschondroplasia).

De Toni T, Baban A, Colombo E, Arnello A, Divizia MT, Lerone M.

Clin Dysmorphol. 2008 Oct;17(4):275-8. doi: 10.1097/MCD.0b013e3282fc77ec. Review. No abstract available.

PMID:
18978659

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