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62 results
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Prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome.
Mitra AG, Salvino AR, Spence JE. Mitra AG, et al. Among authors: spence je. Prenat Diagn. 1999 Apr;19(4):375-8. doi: 10.1002/(sici)1097-0223(199904)19:4<375::aid-pd528>;2-j. Prenat Diagn. 1999. PMID: 10327146
Novel ring chromosome composed of X- and Y-derived material in a girl with manifestations of Ullrich-Turner syndrome.
Grass FS, Brown CA, Backeljauw PF, Lucas A, Brasington C, Gazak JM, Nakano S, Ostrowski RS, Spence JE. Grass FS, et al. Among authors: spence je. Am J Med Genet. 2000 Aug 28;93(5):343-8. Am J Med Genet. 2000. PMID: 10951455
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.
Traylor RN, Dobyns WB, Rosenfeld JA, Wheeler P, Spence JE, Bandholz AM, Bawle EV, Carmany EP, Powell CM, Hudson B, Schultz RA, Shaffer LG, Ballif BC. Traylor RN, et al. Among authors: spence je. Mol Syndromol. 2012 Sep;3(3):102-112. doi: 10.1159/000342008. Epub 2012 Aug 23. Mol Syndromol. 2012. PMID: 23112752 Free PMC article.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. Girirajan S, et al. Among authors: spence je. N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12. N Engl J Med. 2012. PMID: 22970919 Free PMC article.
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group. Rosenfeld JA, et al. Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8. Eur J Hum Genet. 2012. PMID: 22317977 Free PMC article.
The nutrition transition in amazonia: rapid economic change and its impact on growth and development in Ribeirinhos.
Piperata BA, Spence JE, Da-Gloria P, Hubbe M. Piperata BA, et al. Among authors: spence je. Am J Phys Anthropol. 2011 Sep;146(1):1-13. doi: 10.1002/ajpa.21459. Am J Phys Anthropol. 2011. PMID: 21541919
Nutrition in transition: dietary patterns of rural Amazonian women during a period of economic change.
Piperata BA, Ivanova SA, Da-gloria P, Veiga G, Polsky A, Spence JE, Murrieta RS. Piperata BA, et al. Among authors: spence je. Am J Hum Biol. 2011 Jul-Aug;23(4):458-69. doi: 10.1002/ajhb.21147. Epub 2011 Apr 27. Am J Hum Biol. 2011. PMID: 21538648
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Zhang F, et al. Among authors: spence je. Am J Hum Genet. 2010 Mar 12;86(3):462-70. doi: 10.1016/j.ajhg.2010.02.001. Epub 2010 Feb 25. Am J Hum Genet. 2010. PMID: 20188345 Free PMC article.
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.
Theisen A, Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG. Theisen A, et al. Among authors: spence je. Mol Syndromol. 2010;1(5):262-271. doi: 10.1159/000328405. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22140379 Free PMC article.
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
Rosenfeld JA, Leppig K, Ballif BC, Thiese H, Erdie-Lalena C, Bawle E, Sastry S, Spence JE, Bandholz A, Surti U, Zonana J, Keller K, Meschino W, Bejjani BA, Torchia BS, Shaffer LG. Rosenfeld JA, et al. Among authors: spence je. Genet Med. 2009 Nov;11(11):797-805. doi: 10.1097/GIM.0b013e3181bd38a9. Genet Med. 2009. PMID: 19938247 Free article.
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