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Results: 1 to 20 of 110

Similar articles for PubMed (Select 23165966)

1.

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. Epub 2012 Nov 19.

PMID:
23165966
2.

Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.

Tamhankar PM, Vasudevan L, Bansal V, Menon SR, Gawde H, D'Souza A, Babu S, Kondurkar S, Adhia R, Das DK.

Eur J Med Genet. 2015 Jun 24. pii: S1769-7212(15)00111-1. doi: 10.1016/j.ejmg.2015.06.002. [Epub ahead of print]

PMID:
26117586
3.

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.

Iossa S, Costa V, Corvino V, Auletta G, Barruffo L, Cappellani S, Ceglia C, Cennamo G, D'Adamo AP, D'Amico A, Di Paolo N, Forte R, Gasparini P, Laria C, Lombardo B, Malesci R, Vitale A, Marciano E, Franzè A.

Mol Cytogenet. 2015 Mar 20;8:18. doi: 10.1186/s13039-015-0120-0. eCollection 2015.

4.

Pitt-Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo.

Grubišić V, Kennedy AJ, Sweatt JD, Parpura V.

Autism Res. 2015 Feb 26. doi: 10.1002/aur.1467. [Epub ahead of print]

PMID:
25728630
5.

Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.

Bertossi C, Cassina M, Cappellari A, Toldo I, Nosadini M, Rigon C, Suppiej A, Sartori S.

Neuropediatrics. 2015 Feb;46(1):56-64. doi: 10.1055/s-0034-1395345. Epub 2015 Jan 7.

PMID:
25565401
6.

4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.

Hemati P, du Souich C, Boerkoel CF.

Am J Med Genet A. 2015 Jan;167A(1):231-7. doi: 10.1002/ajmg.a.36821. Epub 2014 Oct 29.

PMID:
25355368
7.

Molecular convergence of neurodevelopmental disorders.

Chen ES, Gigek CO, Rosenfeld JA, Diallo AB, Maussion G, Chen GG, Vaillancourt K, Lopez JP, Crapper L, Poujol R, Shaffer LG, Bourque G, Ernst C.

Am J Hum Genet. 2014 Nov 6;95(5):490-508. doi: 10.1016/j.ajhg.2014.09.013. Epub 2014 Oct 9.

9.

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. Epub 2014 Mar 1. Review.

PMID:
24594265
10.

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
11.

Absence of low frequency variants associated with schizophrenia at the ultraconserved non-coding region of TCF4.

González-Penas J, Arrojo M, Páramo M, Paz E, Agra S, Ramos-Ríos R, Brenlla J, Costas J.

Psychiatry Res. 2014 Jan 30;215(1):255-7. doi: 10.1016/j.psychres.2013.10.008. Epub 2013 Oct 22. No abstract available.

PMID:
24210665
12.

Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation.

Forrest MP, Waite AJ, Martin-Rendon E, Blake DJ.

PLoS One. 2013 Aug 23;8(8):e73169. doi: 10.1371/journal.pone.0073169. eCollection 2013.

13.

Microdeletion 5q14.3 and anomalies of brain development.

Hotz A, Hellenbroich Y, Sperner J, Linder-Lucht M, Tacke U, Walter C, Caliebe A, Nagel I, Saunders DE, Wolff G, Martin P, Morris-Rosendahl DJ.

Am J Med Genet A. 2013 Sep;161A(9):2124-33. doi: 10.1002/ajmg.a.36020. Epub 2013 Jul 4.

PMID:
23824879
14.

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.

15.

Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients.

Hannachi H, Mougou S, Benabdallah I, Soayh N, Kahloul N, Gaddour N, Le Lorc'h M, Sanlaville D, El Ghezal H, Saad A.

Cytogenet Genome Res. 2013;140(1):1-11. doi: 10.1159/000350785. Epub 2013 Apr 27.

PMID:
23635516
16.

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

Nguyen-Minh S, Drossel K, Horn D, Rost I, Spors B, Kaindl AM.

Gene. 2013 Jul 1;523(1):92-8. doi: 10.1016/j.gene.2013.03.078. Epub 2013 Apr 5.

PMID:
23566840
17.

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. Epub 2013 Mar 23.

PMID:
23528641
18.

MEF2C deletions and mutations versus duplications: a clinical comparison.

Novara F, Rizzo A, Bedini G, Girgenti V, Esposito S, Pantaleoni C, Ciccone R, Sciacca FL, Achille V, Della Mina E, Gana S, Zuffardi O, Estienne M.

Eur J Med Genet. 2013 May;56(5):260-5. doi: 10.1016/j.ejmg.2013.01.011. Epub 2013 Feb 10.

PMID:
23402836
19.

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E.

Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3.

20.

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. Epub 2012 Dec 17.

PMID:
23248353
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