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Items: 1 to 20 of 31

1.

Update on 13 Syndromes Affecting Craniofacial and Dental Structures.

Bartzela TN, Carels C, Maltha JC.

Front Physiol. 2017 Dec 14;8:1038. doi: 10.3389/fphys.2017.01038. eCollection 2017. Review.

2.

Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia.

Ping LY, Chuang YA, Hsu SH, Tsai HY, Cheng MC.

Genes (Basel). 2016 Nov 22;7(11). pii: E102.

3.
4.

TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome.

Gao S, Moreno M, Eliason S, Cao H, Li X, Yu W, Bidlack FB, Margolis HC, Baldini A, Amendt BA.

Hum Mol Genet. 2015 Apr 15;24(8):2330-48. doi: 10.1093/hmg/ddu750. Epub 2015 Jan 2.

5.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK.

Circ Res. 2014 Oct 24;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

6.

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

Uwineza A, Caberg JH, Hitayezu J, Hellin AC, Jamar M, Dideberg V, Rusingiza EK, Bours V, Mutesa L.

BMC Med Genet. 2014 Jul 12;15:79. doi: 10.1186/1471-2350-15-79.

7.

Genetic evidence for conserved non-coding element function across species-the ears have it.

Turner EE, Cox TC.

Front Physiol. 2014 Jan 21;5:7. doi: 10.3389/fphys.2014.00007. eCollection 2014.

8.

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population.

Paranaíba LM, de Aquino SN, Bufalino A, Martelli-Júnior H, Graner E, Brito LA, e Passos-Bueno MR, Coletta RD, Swerts MS.

Med Oral Patol Oral Cir Bucal. 2013 May 1;18(3):e414-20.

9.

Early de novo DNA methylation and prolonged demethylation in the muscle lineage.

Tsumagari K, Baribault C, Terragni J, Varley KE, Gertz J, Pradhan S, Badoo M, Crain CM, Song L, Crawford GE, Myers RM, Lacey M, Ehrlich M.

Epigenetics. 2013 Mar;8(3):317-32. doi: 10.4161/epi.23989. Epub 2013 Feb 15.

10.

Genetics and management of the patient with orofacial cleft.

Brito LA, Meira JG, Kobayashi GS, Passos-Bueno MR.

Plast Surg Int. 2012;2012:782821. doi: 10.1155/2012/782821. Epub 2012 Nov 1.

11.

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium.

Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3.

12.

Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.

Quina LA, Kuramoto T, Luquetti DV, Cox TC, Serikawa T, Turner EE.

Dis Model Mech. 2012 Nov;5(6):812-22. doi: 10.1242/dmm.009910. Epub 2012 Jun 26.

13.

How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease.

Chin AJ, Saint-Jeannet JP, Lo CW.

Mech Dev. 2012 Jul;129(5-8):75-97. doi: 10.1016/j.mod.2012.05.005. Epub 2012 May 26. Review.

14.

Zebrafish cardiac development requires a conserved secondary heart field.

Hami D, Grimes AC, Tsai HJ, Kirby ML.

Development. 2011 Jun;138(11):2389-98. doi: 10.1242/dev.061473.

15.

Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.

Tomita-Mitchell A, Mahnke DK, Larson JM, Ghanta S, Feng Y, Simpson PM, Broeckel U, Duffy K, Tweddell JS, Grossman WJ, Routes JM, Mitchell ME.

Physiol Genomics. 2010 Sep;42A(1):52-60. doi: 10.1152/physiolgenomics.00073.2010. Epub 2010 Jun 15.

16.

A novel role for transcription factor Lmo4 in thymus development through genetic interaction with Cited2.

Michell AC, Bragança J, Broadbent C, Joyce B, Franklyn A, Schneider JE, Bhattacharya S, Bamforth SD.

Dev Dyn. 2010 Jul;239(7):1988-94. doi: 10.1002/dvdy.22334.

17.

The embryonic genes Dkk3, Hoxd8, Hoxd9 and Tbx1 identify muscle types in a diet-independent and fiber-type unrelated way.

de Wilde J, Hulshof MF, Boekschoten MV, de Groot P, Smit E, Mariman EC.

BMC Genomics. 2010 Mar 15;11:176. doi: 10.1186/1471-2164-11-176.

18.

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG.

Am J Hum Genet. 2010 Mar 12;86(3):454-61. doi: 10.1016/j.ajhg.2010.01.038. Epub 2010 Mar 4.

19.

Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.

Heike CL, Starr JR, Rieder MJ, Cunningham ML, Edwards KL, Stanaway IB, Crawford DC.

Birth Defects Res A Clin Mol Teratol. 2010 Jan;88(1):54-63. doi: 10.1002/bdra.20604.

20.

Enamel-free teeth: Tbx1 deletion affects amelogenesis in rodent incisors.

Catón J, Luder HU, Zoupa M, Bradman M, Bluteau G, Tucker AS, Klein O, Mitsiadis TA.

Dev Biol. 2009 Apr 15;328(2):493-505. doi: 10.1016/j.ydbio.2009.02.014. Epub 2009 Feb 20.

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