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Items: 1 to 20 of 36

1.

A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.

Li WL, Buckley J, Sanchez-Lara PA, Maglinte DT, Viduetsky L, Tatarinova TV, Aparicio JG, Kim JW, Au M, Ostrow D, Lee TC, O'Gorman M, Judkins A, Cobrinik D, Triche TJ.

J Mol Diagn. 2016 May 4. pii: S1525-1578(16)30029-0. doi: 10.1016/j.jmoldx.2016.02.006. [Epub ahead of print]

PMID:
27155049
2.

Clinical and Genomic Approaches for the Diagnosis of Craniofacial Disorders.

Sanchez-Lara PA.

Curr Top Dev Biol. 2015;115:543-59. doi: 10.1016/bs.ctdb.2015.09.004. Epub 2015 Oct 26.

PMID:
26589937
3.

Parental risk factors for oral clefts among Central Africans, Southeast Asians, and Central Americans.

Figueiredo JC, Ly S, Magee KS, Ihenacho U, Baurley JW, Sanchez-Lara PA, Brindopke F, Nguyen TH, Nguyen V, Tangco MI, Giron M, Abrahams T, Jang G, Vu A, Zolfaghari E, Yao CA, Foong A, DeClerk YA, Samet JM, Magee W 3rd.

Birth Defects Res A Clin Mol Teratol. 2015 Oct;103(10):863-79. doi: 10.1002/bdra.23417. Epub 2015 Aug 25.

PMID:
26466527
4.

Disruption of the ERK/MAPK pathway in neural crest cells as a potential cause of Pierre Robin sequence.

Parada C, Han D, Grimaldi A, Sarrión P, Park SS, Pelikan R, Sanchez-Lara PA, Chai Y.

Development. 2015 Nov 1;142(21):3734-45. doi: 10.1242/dev.125328. Epub 2015 Sep 22.

5.

Integration of comprehensive 3D microCT and signaling analysis reveals differential regulatory mechanisms of craniofacial bone development.

Ho TV, Iwata J, Ho HA, Grimes WC, Park S, Sanchez-Lara PA, Chai Y.

Dev Biol. 2015 Apr 15;400(2):180-90. doi: 10.1016/j.ydbio.2015.02.010. Epub 2015 Feb 23.

6.

A model for interprofessional health care: lessons learned from craniofacial teams.

Slavkin HC, Sanchez-Lara PA, Chai Y, Urata M.

J Calif Dent Assoc. 2014 Sep;42(9):637-44.

PMID:
25265730
7.

Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians.

Figueiredo JC, Ly S, Raimondi H, Magee K, Baurley JW, Sanchez-Lara PA, Ihenacho U, Yao C, Edlund CK, van den Berg D, Casey G, DeClerk YA, Samet JM, Magee W 3rd.

Am J Med Genet A. 2014 Oct;164A(10):2572-80. doi: 10.1002/ajmg.a.36693. Epub 2014 Aug 5.

PMID:
25099202
8.

TGFβ regulates epithelial-mesenchymal interactions through WNT signaling activity to control muscle development in the soft palate.

Iwata J, Suzuki A, Yokota T, Ho TV, Pelikan R, Urata M, Sanchez-Lara PA, Chai Y.

Development. 2014 Feb;141(4):909-17. doi: 10.1242/dev.103093.

9.

Erratum: Impact of stem cells in craniofacial regenerative medicine.

Sanchez-Lara PA.

Front Physiol. 2013 Aug 29;4:219. eCollection 2013.

10.

Modulation of lipid metabolic defects rescues cleft palate in Tgfbr2 mutant mice.

Iwata J, Suzuki A, Pelikan RC, Ho TV, Sanchez-Lara PA, Chai Y.

Hum Mol Genet. 2014 Jan 1;23(1):182-93. doi: 10.1093/hmg/ddt410. Epub 2013 Aug 23.

11.

Investigation of NRXN1 deletions: clinical and molecular characterization.

Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG.

Am J Med Genet A. 2013 Apr;161A(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12.

PMID:
23495017
12.

Smad4-Irf6 genetic interaction and TGFβ-mediated IRF6 signaling cascade are crucial for palatal fusion in mice.

Iwata J, Suzuki A, Pelikan RC, Ho TV, Sanchez-Lara PA, Urata M, Dixon MJ, Chai Y.

Development. 2013 Mar;140(6):1220-30. doi: 10.1242/dev.089615. Epub 2013 Feb 13.

13.

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA.

Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2.

14.

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA.

Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18.

15.

Extrinsic factors influencing fetal deformations and intrauterine growth restriction.

Moh W, Graham JM Jr, Wadhawan I, Sanchez-Lara PA.

J Pregnancy. 2012;2012:750485. doi: 10.1155/2012/750485. Epub 2012 Jul 19.

16.

Hypertrophic scarring in cleft lip repair: a comparison of incidence among ethnic groups.

Soltani AM, Francis CS, Motamed A, Karatsonyi AL, Hammoudeh JA, Sanchez-Lara PA, Reinisch JF, Urata MM.

Clin Epidemiol. 2012;4:187-91. doi: 10.2147/CLEP.S31119. Epub 2012 Jul 26.

17.

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA.

Hum Mutat. 2012 Dec;33(12):1626-9. doi: 10.1002/humu.22166. Epub 2012 Aug 13.

18.

Impact of stem cells in craniofacial regenerative medicine.

Sanchez-Lara PA, Warburton D.

Front Physiol. 2012 Jun 21;3:188. doi: 10.3389/fphys.2012.00188. eCollection 2012. Erratum in: Front Physiol. 2013;4:219. Zhao, Hu [removed]; Bajpai, Ruchi [removed]; Abdelhamid, Alaa I [removed].

19.

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA.

Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi: 10.1002/ajmg.a.35415. Epub 2012 Jun 18.

20.

Bilateral maxillary duplication: case report and literature review.

Borzabadi-Farahani A, Yen SL, Yamashita DD, Sanchez-Lara PA.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2012 May;113(5):e29-32. doi: 10.1016/j.tripleo.2011.06.017. Epub 2011 Sep 16. Review.

PMID:
22676989
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