Ballif BC - Search Results

1

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development.

Lage K, Greenway SC, Rosenfeld JA, Wakimoto H, Gorham JM, Segrè AV, Roberts AE, Smoot LB, Pu WT, Pereira AC, Mesquita SM, Tommerup N, Brunak S, Ballif BC, Shaffer LG, Donahoe PK, Daly MJ, Seidman JG, Seidman CE, Larsen LA. Lage K, et al. Among authors: ballif bc. Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):14035-40. doi: 10.1073/pnas.1210730109. Epub 2012 Aug 16. Proc Natl Acad Sci U S A. 2012. PMID: 22904188 Free PMC article.

2

Mouse model implicates GNB3 duplication in a childhood obesity syndrome.

Goldlust IS, Hermetz KE, Catalano LM, Barfield RT, Cozad R, Wynn G, Ozdemir AC, Conneely KN, Mulle JG, Dharamrup S, Hegde MR, Kim KH, Angle B, Colley A, Webb AE, Thorland EC, Ellison JW, Rosenfeld JA, Ballif BC, Shaffer LG, Demmer LA; Unique Rare Chromosome Disorder Support Group; Rudd MK. Goldlust IS, et al. Among authors: ballif bc. Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14990-4. doi: 10.1073/pnas.1305999110. Epub 2013 Aug 26. Proc Natl Acad Sci U S A. 2013. PMID: 23980137 Free PMC article.

3

Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions.

Ballif BC, Gajecka M, Shaffer LG. Ballif BC, et al. Chromosome Res. 2004;12(2):133-41. doi: 10.1023/b:chro.0000013165.88969.10. Chromosome Res. 2004. PMID: 15053483

4

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

Ballif BC, Wakui K, Gajecka M, Shaffer LG. Ballif BC, et al. Hum Genet. 2004 Jan;114(2):198-206. doi: 10.1007/s00439-003-1029-y. Epub 2003 Oct 25. Hum Genet. 2004. PMID: 14579147

5

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Rosenfeld JA, Ballif BC, Martin DM, Aylsworth AS, Bejjani BA, Torchia BS, Shaffer LG. Rosenfeld JA, et al. Among authors: ballif bc. Hum Genet. 2010 Apr;127(4):421-40. doi: 10.1007/s00439-009-0778-7. Hum Genet. 2010. PMID: 20066439

6

The use of new technologies in the detection of balanced translocations in hematologic disorders.

Shaffer LG, Schultz RA, Ballif BC. Shaffer LG, et al. Among authors: ballif bc. Curr Opin Genet Dev. 2012 Jun;22(3):264-71. doi: 10.1016/j.gde.2012.01.005. Epub 2012 Feb 13. Curr Opin Genet Dev. 2012. PMID: 22336526 Review.

7

The use of cytogenetic microarrays in myelodysplastic syndrome characterization.

Shaffer LG, Ballif BC, Schultz RA. Shaffer LG, et al. Among authors: ballif bc. Methods Mol Biol. 2013;973:69-85. doi: 10.1007/978-1-62703-281-0_5. Methods Mol Biol. 2013. PMID: 23412784

8

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.

Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. Ballif BC, et al. Hum Mol Genet. 2003 Sep 1;12(17):2153-65. doi: 10.1093/hmg/ddg231. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915474

9

The use of microarray technology for cytogenetics.

Bejjani BA, Shaffer LG, Ballif BC. Bejjani BA, et al. Among authors: ballif bc. Methods Mol Biol. 2010;632:125-39. doi: 10.1007/978-1-60761-663-4_8. Methods Mol Biol. 2010. PMID: 20217575

10

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.

Rosenfeld JA, Ballif BC, Torchia BS, Sahoo T, Ravnan JB, Schultz R, Lamb A, Bejjani BA, Shaffer LG. Rosenfeld JA, et al. Among authors: ballif bc. Genet Med. 2010 Nov;12(11):694-702. doi: 10.1097/GIM.0b013e3181f0c5f3. Genet Med. 2010. PMID: 20808228 Free article.

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