Rappaport EF - Search Results

1

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q.

Vorstman JA, Jalali GR, Rappaport EF, Hacker AM, Scott C, Emanuel BS. Vorstman JA, et al. Among authors: rappaport ef. Hum Mutat. 2006 Aug;27(8):814-21. doi: 10.1002/humu.20330. Hum Mutat. 2006. PMID: 16791841 Free PMC article.

2

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.

Busse T, Graham JM Jr, Feldman G, Perin J, Catherwood A, Knowlton R, Rappaport EF, Emanuel B, Driscoll DA, Saitta SC. Busse T, et al. Among authors: rappaport ef. Hum Mutat. 2011 Jan;32(1):91-7. doi: 10.1002/humu.21395. Hum Mutat. 2011. PMID: 21120947

3

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.

Ming JE, Geiger E, James AC, Ciprero KL, Nimmakayalu M, Zhang Y, Huang A, Vaddi M, Rappaport E, Zackai EH, Shaikh TH. Ming JE, et al. Hum Mutat. 2006 May;27(5):467-73. doi: 10.1002/humu.20322. Hum Mutat. 2006. PMID: 16619270

4

Proline affects brain function in 22q11DS children with the low activity COMT 158 allele.

Vorstman JA, Turetsky BI, Sijmens-Morcus ME, de Sain MG, Dorland B, Sprong M, Rappaport EF, Beemer FA, Emanuel BS, Kahn RS, van Engeland H, Kemner C. Vorstman JA, et al. Among authors: rappaport ef. Neuropsychopharmacology. 2009 Feb;34(3):739-46. doi: 10.1038/npp.2008.132. Epub 2008 Sep 3. Neuropsychopharmacology. 2009. PMID: 18769474 Free PMC article.

5

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.

Ferraris A, Rappaport E, Santacroce R, Pollak E, Krantz I, Toth S, Lysholm F, Margaglione M, Restagno G, Dallapiccola B, Surrey S, Fortina P. Ferraris A, et al. Hum Mutat. 2002 Oct;20(4):312-20. doi: 10.1002/humu.10127. Hum Mutat. 2002. PMID: 12325027

6

Integrative genomics identifies distinct molecular classes of neuroblastoma and shows that multiple genes are targeted by regional alterations in DNA copy number.

Wang Q, Diskin S, Rappaport E, Attiyeh E, Mosse Y, Shue D, Seiser E, Jagannathan J, Shusterman S, Bansal M, Khazi D, Winter C, Okawa E, Grant G, Cnaan A, Zhao H, Cheung NK, Gerald W, London W, Matthay KK, Brodeur GM, Maris JM. Wang Q, et al. Cancer Res. 2006 Jun 15;66(12):6050-62. doi: 10.1158/0008-5472.CAN-05-4618. Cancer Res. 2006. PMID: 16778177

7

t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes.

Megonigal MD, Rappaport EF, Jones DH, Williams TM, Lovett BD, Kelly KM, Lerou PH, Moulton T, Budarf ML, Felix CA. Megonigal MD, et al. Among authors: rappaport ef. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6413-8. doi: 10.1073/pnas.95.11.6413. Proc Natl Acad Sci U S A. 1998. PMID: 9600980 Free PMC article.

8

Panhandle PCR for cDNA: a rapid method for isolation of MLL fusion transcripts involving unknown partner genes.

Megonigal MD, Rappaport EF, Wilson RB, Jones DH, Whitlock JA, Ortega JA, Slater DJ, Nowell PC, Felix CA. Megonigal MD, et al. Among authors: rappaport ef. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9597-602. doi: 10.1073/pnas.150241797. Proc Natl Acad Sci U S A. 2000. PMID: 10920186 Free PMC article.

9

Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes.

Scavello GS Jr, Paluru PC, Zhou J, White PS, Rappaport EF, Young TL. Scavello GS Jr, et al. Among authors: rappaport ef. Mol Vis. 2005 Feb 2;11:97-110. Mol Vis. 2005. PMID: 15723005 Free article.

10

Detection of the most common mutations causing beta-thalassemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS).

Fortina P, Dotti G, Conant R, Monokian G, Parrella T, Hitchcock W, Rappaport E, Schwartz E, Surrey S. Fortina P, et al. PCR Methods Appl. 1992 Nov;2(2):163-6. doi: 10.1101/gr.2.2.163. PCR Methods Appl. 1992. PMID: 1477672 Free article.

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