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Results: 1 to 20 of 97

1.

Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.

Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA.

Hum Mol Genet. 2011 Oct 15;20(20):3943-52. doi: 10.1093/hmg/ddr313. Epub 2011 Jul 20.

PMID:
21775501
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB.

Am J Hum Genet. 2008 Nov;83(5):616-22. doi: 10.1016/j.ajhg.2008.10.004. Epub 2008 Oct 23.

PMID:
18950742
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, Lüttgen S, Bald R, Besoke R, Held K, Mundlos S, Kurth I.

Eur J Hum Genet. 2012 Jun;20(6):705-8. doi: 10.1038/ejhg.2011.264. Epub 2012 Jan 18.

PMID:
22258522
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA.

Am J Hum Genet. 2010 Jul 9;87(1):154-60. doi: 10.1016/j.ajhg.2010.06.010.

PMID:
20598276
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Genetics of clubfoot.

Dobbs MB, Gurnett CA.

J Pediatr Orthop B. 2012 Jan;21(1):7-9. doi: 10.1097/BPB.0b013e328349927c. Review.

PMID:
21817922
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development.

Szeto DP, Rodriguez-Esteban C, Ryan AK, O'Connell SM, Liu F, Kioussi C, Gleiberman AS, Izpisúa-Belmonte JC, Rosenfeld MG.

Genes Dev. 1999 Feb 15;13(4):484-94.

PMID:
10049363
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.

Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E, Lindenbaum P, Benajjou A, Fontaine K, Vazart C, Gesnouin P, Brooks P, Hager J.

BMC Med Genet. 2007 Dec 6;8:74.

PMID:
18053270
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Deletion of the Pitx1 genomic locus affects mandibular tooth morphogenesis and expression of the Barx1 and Tbx1 genes.

Mitsiadis TA, Drouin J.

Dev Biol. 2008 Jan 15;313(2):887-96. Epub 2007 Nov 17.

PMID:
18082678
[PubMed - indexed for MEDLINE]
Free Article
9.

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.

Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA.

Eur J Hum Genet. 2013 Apr;21(4):373-80. doi: 10.1038/ejhg.2012.177. Epub 2012 Aug 15.

PMID:
22892537
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Pitx1 determines the morphology of muscle, tendon, and bones of the hindlimb.

DeLaurier A, Schweitzer R, Logan M.

Dev Biol. 2006 Nov 1;299(1):22-34. Epub 2006 Jul 14.

PMID:
16989801
[PubMed - indexed for MEDLINE]
Free Article
11.

Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.

Al-Qattan MM, Al-Thunayan A, Alabdulkareem I, Al Balwi M.

Gene. 2013 Jul 15;524(1):65-71. doi: 10.1016/j.gene.2013.03.120. Epub 2013 Apr 12.

PMID:
23587911
[PubMed - indexed for MEDLINE]
12.

Pitx1 broadly associates with limb enhancers and is enriched on hindlimb cis-regulatory elements.

Infante CR, Park S, Mihala AG, Kingsley DM, Menke DB.

Dev Biol. 2013 Feb 1;374(1):234-44. doi: 10.1016/j.ydbio.2012.11.017. Epub 2012 Nov 27.

PMID:
23201014
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.

Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG.

Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8.

PMID:
21744490
[PubMed - indexed for MEDLINE]
14.

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.

Kevelam SH, van Harssel JJ, van der Zwaag B, Smeets HJ, Paulussen AD, Lichtenbelt KD.

Am J Med Genet A. 2012 Jan;158A(1):166-73. doi: 10.1002/ajmg.a.34350. Epub 2011 Nov 21.

PMID:
22106008
[PubMed - indexed for MEDLINE]
15.

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA.

Am J Med Genet A. 2014 Feb;164A(2):364-9. doi: 10.1002/ajmg.a.36238.

PMID:
24592505
[PubMed - indexed for MEDLINE]
16.

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.

Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT.

Am J Med Genet A. 2012 Jul;158A(7):1620-7. doi: 10.1002/ajmg.a.35418. Epub 2012 Jun 7.

PMID:
22678995
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.

MacDonald ST, Bamforth SD, Chen CM, Farthing CR, Franklyn A, Broadbent C, Schneider JE, Saga Y, Lewandoski M, Bhattacharya S.

Cardiovasc Res. 2008 Aug 1;79(3):448-57. doi: 10.1093/cvr/cvn101. Epub 2008 Apr 25.

PMID:
18440989
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.

Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S.

Am J Hum Genet. 2012 Oct 5;91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014. Epub 2012 Sep 27.

PMID:
23022097
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Pitx1 and Pitx2 are required for development of hindlimb buds.

Marcil A, Dumontier E, Chamberland M, Camper SA, Drouin J.

Development. 2003 Jan;130(1):45-55.

PMID:
12441290
[PubMed - indexed for MEDLINE]
Free Article
20.

New emerging role of pitx1 transcription factor in osteoarthritis pathogenesis.

Picard C, Azeddine B, Moldovan F, Martel-Pelletier J, Moreau A.

Clin Orthop Relat Res. 2007 Sep;462:59-66.

PMID:
17549029
[PubMed - indexed for MEDLINE]

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