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Dielectrophoretic capture and genetic analysis of single neuroblastoma tumor cells.
Published in:
Frontiers in Oncology, 2014, v. 4, p. 1, doi. 10.3389/fonc.2014.00201
By:
- Carpenter, Erica L.;
- Rader, Julie Ann;
- Ruden, Jacob;
- Rappaport, Eric F.;
- Hunter, Kristen N.;
- Hallberg, Paul L.;
- Krytska, Kate;
- O'Dwyer, Peter J.;
- Mosse, Yael P.
Publication type:
Article
Mapping of Deletional Forms of α- and γδβ-Thalassemia.
Published in:
Annals of the New York Academy of Sciences, 1990, v. 612, n. 1, p. 480, doi. 10.1111/j.1749-6632.1990.tb24337.x
By:
- FORTINA, PAOLO;
- DELGROSSO, KATHLEEN;
- HAINES, KATHLEEN;
- RAPPAPORT, ERIC;
- WERNER, ERIC;
- SCHWARTZ, ELIAS;
- SURREY, SAUL
Publication type:
Article
Rheological Properties of SickleErythrocytes in the Steady State Predict the Frequency and Severity of the Sickle Cell Painful Crisis.
Published in:
Annals of the New York Academy of Sciences, 1989, v. 565, n. 1, p. 363, doi. 10.1111/j.1749-6632.1989.tb24188.x
By:
- BALLAS, SAMIR K.;
- LARNER, JAMES;
- SMITH, EUGENE D.;
- SURREY, SAUL;
- SCHWARTZ, ELIAS;
- RAPPAPORT, ERIC F.
Publication type:
Article
The Effect of Alpha Thalassemia on the Clinical Course of Hemoglobin SC Disease.
Published in:
Annals of the New York Academy of Sciences, 1989, v. 565, n. 1, p. 365, doi. 10.1111/j.1749-6632.1989.tb24189.x
By:
- TALACKI, CAROL A.;
- LARNER, JAMES;
- SCHWARTZ, ELIAS;
- SURREY, SAUL;
- RAPPAPORT, ERIC F.;
- BALLAS, SAMIR K.
Publication type:
Article
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Published in:
Nature Genetics, 2004, v. 36, n. 6, p. 631, doi. 10.1038/ng1364
By:
- Krantz, Ian D.;
- McCallum, Jennifer;
- DeScipio, Cheryl;
- Kaur, Maninder;
- Gillis, Lynette A.;
- Yaeger, Dinah;
- Jukofsky, Lori;
- Wasserman, Nora;
- Bottani, Armand;
- Morris, Colleen A.;
- Nowaczyk, Malgorzata J. M.;
- Toriello, Helga;
- Bamshad, Michael J.;
- Carey, John C.;
- Rappaport, Eric;
- Kawauchi, Shimako;
- Lander, Arthur D.;
- Calof, Anne L.;
- Hui-Hua Li;
- Devoto, Marcella
Publication type:
Article
The type 2 diabetes presumed causal variant within TCF7L2 resides in an element that controls the expression of ACSL5.
Published in:
Diabetologia, 2016, v. 59, n. 11, p. 2360, doi. 10.1007/s00125-016-4077-2
By:
- Xia, Qianghua;
- Chesi, Alessandra;
- Manduchi, Elisabetta;
- Johnston, Brian;
- Lu, Sumei;
- Leonard, Michelle;
- Parlin, Ursula;
- Rappaport, Eric;
- Huang, Peng;
- Wells, Andrew;
- Blobel, Gerd;
- Johnson, Matthew;
- Grant, Struan
Publication type:
Article
Primary Respiratory Chain Disease Causes Tissue-Specific Dysregulation of the Global Transcriptome and Nutrient-Sensing Signaling Network.
Published in:
PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069282
By:
- Zhang, Zhe;
- Tsukikawa, Mai;
- Peng, Min;
- Polyak, Erzsebet;
- Nakamaru-Ogiso, Eiko;
- Ostrovsky, Julian;
- McCormack, Shana;
- Place, Emily;
- Clarke, Colleen;
- Reiner, Gail;
- McCormick, Elizabeth;
- Rappaport, Eric;
- Haas, Richard;
- Baur, Joseph A.;
- Falk, Marni J.
Publication type:
Article
The next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity.
Published in:
BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2836-6
By:
- Dapprich, Johannes;
- Ferriola, Deborah;
- Mackiewicz, Kate;
- Clark, Peter M.;
- Rappaport, Eric;
- D'Arcy, Monica;
- Sasson, Ariella;
- Xiaowu Gai;
- Schug, Jonathan;
- Kaestner, Klaus H.;
- Monos, Dimitri
Publication type:
Article
Reciprocal DNA topoisomerase II cleavage events at 5'-TATTA-3' sequences in MLL and AF-9 create homologous single-stranded overhangs that anneal to form der(11) and der(9) genomic breakpoint junctions in treatment-related AML without further processing.
Published in:
Oncogene, 2003, v. 22, n. 52, p. 8448, doi. 10.1038/sj.onc.1207052
By:
- Whitmarsh, Ryan J.;
- Saginario, Charles;
- Zhuo, Ya;
- Hilgenfeld, Eva;
- Rappaport, Eric F.;
- Megonigal, Maureen D.;
- Carroll, Martin;
- Liu, Mingli;
- Osheroff, Neil;
- Cheung, Nai-Kong V.;
- Slater, Diana J.;
- Ried, Thomas;
- Knutsen, Turid;
- Blair, Ian A.;
- Felix, Carolyn A.
Publication type:
Article
MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase.
Published in:
Oncogene, 2002, v. 21, n. 30, p. 4706, doi. 10.1038/sj.onc.1205572
By:
- Slater, Diana J.;
- Hilgenfeld, Eva;
- Rappaport, Eric F.;
- Shah, Narayan;
- Meek, Rita G.;
- Williams, Wendy Reed;
- Lovett, Brian D.;
- Osheroff, Neil;
- Autar, Reshma S.;
- Ried, Thomas;
- Felix, Carolyn A.
Publication type:
Article
Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus – A GISC study.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 5, p. 567, doi. 10.1038/sj.ejhg.5200328
By:
- Annese, Vito;
- Latiano, Anna;
- Bovio, Paola;
- Forabosco, Paola;
- Piepoli, Ada;
- Lombardi, Giovanni;
- Andreoli, Arnaldo;
- Astegiano, Marco;
- Gionchetti, Paolo;
- Riegler, Gabriele;
- Sturniolo, Giacomo C;
- Clementi, Maurizio;
- Rappaport, Eric;
- Fortina, Paolo;
- Devoto, Marcella;
- Gasparini, Paolo;
- Andriulli, Angelo
Publication type:
Article
Parallel molecular genetic analysis.
Published in:
European Journal of Human Genetics, 1998, v. 6, n. 5, p. 417, doi. 10.1038/sj.ejhg.5200218
By:
- McKenzie, Steven E;
- Mansfield, Elaine;
- Rappaport, Eric;
- Surrey, Saul;
- Fortina, Paolo
Publication type:
Article
CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.
Published in:
BMC Bioinformatics, 2010, v. 11, p. 1, doi. 10.1186/1471-2105-11-4
By:
- Xiaowu Gai;
- Perin, Juan C.;
- Murphy, Kevin;
- O'Hara, Ryan;
- D'arcy, Monica;
- Wenocur, Adam;
- Xie, Hongbo M.;
- Rappaport, Eric F.;
- Shaikh, Tamim H.;
- White, Peter S.
Publication type:
Article
α THALASSEMIA AND THE EXPRESSION OF HEMOGLOBIN G-PHILADELPHIA *.
Published in:
Annals of the New York Academy of Sciences, 1980, v. 344, n. 1, p. 62, doi. 10.1111/j.1749-6632.1980.tb33649.x
By:
- Surrey, Saul;
- Ohene-Frempong, Kwaku;
- Rappaport, Eric;
- Atwater, Jean;
- Schwartz, Elias
Publication type:
Article
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Published in:
Nature, 2009, v. 459, n. 7246, p. 528, doi. 10.1038/nature07999
By:
- Wang, Kai;
- Zhang, Haitao;
- Ma, Deqiong;
- Bucan, Maja;
- Glessner, Joseph T.;
- Abrahams, Brett S.;
- Salyakina, Daria;
- Imielinski, Marcin;
- Bradfield, Jonathan P.;
- Sleiman, Patrick M. A.;
- Kim, Cecilia E.;
- Hou, Cuiping;
- Frackelton, Edward;
- Chiavacci, Rosetta;
- Takahashi, Nagahide;
- Sakurai, Takeshi;
- Rappaport, Eric;
- Lajonchere, Clara M.;
- Munson, Jeffrey;
- Estes, Annette
Publication type:
Article
Identification of ALK as a major familial neuroblastoma predisposition gene.
Published in:
Nature, 2008, v. 455, n. 7215, p. 930, doi. 10.1038/nature07261
By:
- Mossé, Yaël P.;
- Laudenslager, Marci;
- Longo, Luca;
- Cole, Kristina A.;
- Wood, Andrew;
- Attiyeh, Edward F.;
- Laquaglia, Michael J.;
- Sennett, Rachel;
- Lynch, Jill E.;
- Perri, Patrizia;
- Laureys, Geneviève;
- Speleman, Frank;
- Kim, Cecilia;
- Hou, Cuiping;
- Hakonarson, Hakon;
- Torkamani, Ali;
- Schork, Nicholas J.;
- Brodeur, Garrett M.;
- Tonini, Gian P.;
- Rappaport, Eric
Publication type:
Article
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
Published in:
2007
By:
- Hakonarson, Hakon;
- Grant, Struan F. A.;
- Bradfield, Jonathan P.;
- Marchand, Luc;
- Kim, Cecilia E.;
- Glessner, Joseph T.;
- Grabs, Rosemarie;
- Casalunovo, Tracy;
- Taback, Shayne P.;
- Frackelton, Edward C.;
- Lawson, Margaret L.;
- Robinson, Luke J.;
- Skraban, Robert;
- Lu, Yang;
- Chiavacci, Rosetta M.;
- Stanley, Charles A.;
- Kirsch, Susan E.;
- Rappaport, Eric F.;
- Orange, Jordan S.;
- Monos, Dimitri S.
Publication type:
Letter
Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT<sup>158</sup> Allele.
Published in:
Neuropsychopharmacology, 2009, v. 34, n. 3, p. 739, doi. 10.1038/npp.2008.132
By:
- Vorstman, Jacob A. S.;
- Turetsky, Bruce I.;
- Sijmens-Morcus, Monique E. J.;
- de Sain, Monique G.;
- Dorland, Bert;
- Sprong, Mirjam;
- Rappaport, Eric F.;
- Beemer, Frits A.;
- Emanuel, Beverly S.;
- Kahn, René S.;
- van Engeland, Herman;
- Kemner, Chantal
Publication type:
Article
Potential role for wild-type p53 in leukemias with MLL gene translocations.
Published in:
Oncogene, 1998, v. 16, n. 10, p. 1351, doi. 10.1038/sj.onc.1201637
By:
- Megonigal, Maureen D;
- Rappaport, Eric F;
- Nowell, Peter C;
- Lange, Beverly J;
- Felix, Carolyn A
Publication type:
Article
Identification and characterization of a novel heparan sulfate-binding domain in Activin A longest variants and implications for function.
Published in:
PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0222784
By:
- Yang, Evan;
- Mundy, Christina;
- Rappaport, Eric F.;
- Pacifici, Maurizio;
- Billings, Paul C.
Publication type:
Article
Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects.
Published in:
Developmental Dynamics, 2008, v. 237, n. 6, p. 1754, doi. 10.1002/dvdy.21580
By:
- Loomes, Kathleen M.;
- Stevens, Stacey A.;
- O'Brien, Megan L.;
- Gonzalez, Dorian M.;
- Ryan, Matthew J.;
- Segalov, Michelle;
- Dormans, Nicholas J.;
- Mimoto, Mizuho S.;
- Gibson, Joshua D.;
- Sewell, William;
- Schaffer, Alyssa A.;
- Nah, Hyun-Duck;
- Rappaport, Eric F.;
- Pratt, Stephen C.;
- Dunwoodie, Sally L.;
- Kusumi, Kenro
Publication type:
Article
Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects.
Published in:
Developmental Dynamics, 2007, v. 236, n. 10, p. 2943, doi. 10.1002/dvdy.21296
By:
- Loomes, Kathleen M.;
- Stevens, Stacey A.;
- O'Brien, Megan L.;
- Gonzalez, Dorian M.;
- Ryan, Matthew J.;
- Segalov, Michelle;
- Dormans, Nicholas J.;
- Mimoto, Mizuho S.;
- Gibson, Joshua D.;
- Sewell, William;
- Schaffer, Alyssa A.;
- Nah, Hyun-Duck;
- Rappaport, Eric F.;
- Pratt, Stephen C.;
- Dunwoodie, Sally L.;
- Kusumi, Kenro
Publication type:
Article
KMT2A‐MAML2 rearrangement emerged and regressed during neuroblastoma therapy without leukemia after 12.8‐year follow‐up.
Published in:
Pediatric Blood & Cancer, 2022, v. 69, n. 1, p. 1, doi. 10.1002/pbc.29344
By:
- Felix, Carolyn A.;
- Slater, Diana J.;
- Davenport, James W.;
- Yu, Xiang;
- Gregory, Brian D.;
- Li, Marilyn M.;
- Rappaport, Eric F.;
- Cheung, Nai‐Kong V.
Publication type:
Article
Unique Familial MLL(KMT2A)-Rearranged Precursor B-Cell Infant Acute Lymphoblastic Leukemia in Non-twin Siblings.
Published in:
2016
By:
- Urtishak, Karen A.;
- Robinson, Blaine W.;
- Rappaport, Eric F.;
- Sarezky, Margaret D.;
- Biegel, Jaclyn A.;
- Nichols, Kim E.;
- Wilmoth, Donna M.;
- Wang, Li‐San;
- Stern, Julie W.;
- Felix, Carolyn A.;
- Wang, Li-San
Publication type:
journal article
Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells.
Published in:
PLoS Biology, 2009, v. 7, n. 5, p. 1, doi. 10.1371/journal.pbio.1000119
By:
- Jinglan Liu;
- Zhe Zhang;
- Bando, Masashige;
- Itoh, Takehiko;
- Deardorff, Matthew A.;
- Clark, Dinah;
- Kaur, Maninder;
- Tandy, Stephany;
- Kondoh, Tatsuro;
- Rappaport, Eric;
- Spinner, Nancy B.;
- Vega, Hugo;
- Jackson, Laird G.;
- Shirahige, Katsuhiko;
- Krantz, Ian D.
Publication type:
Article
Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I.
Published in:
Bipolar Disorders, 2012, v. 14, n. 8, p. 809, doi. 10.1111/bdi.12002
By:
- Doyle, Glenn A;
- Lai, Alison T;
- Chou, Andrew D;
- Wang, Min‐Jung;
- Gai, Xiaowu;
- Rappaport, Eric F;
- Berrettini, Wade H
Publication type:
Article
Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome.
Published in:
British Journal of Haematology, 2009, v. 145, n. 1, p. 101, doi. 10.1111/j.1365-2141.2009.07595.x
By:
- Teachey, David T.;
- Greiner, Robert;
- Seif, Alix;
- Attiyeh, Edward;
- Bleesing, Jack;
- Choi, John;
- Manno, Catherine;
- Rappaport, Eric;
- Schwabe, Dirk;
- Sheen, Cecilia;
- Sullivan, Kathleen E.;
- Zhuang, Hongming;
- Wechsler, Daniel S.;
- Grupp, Stephan A.
Publication type:
Article
CYP3A genotypes and treatment response in paediatric acute lymphoblastic leukaemia.
Published in:
British Journal of Haematology, 2003, v. 122, n. 2, p. 240, doi. 10.1046/j.1365-2141.2003.04430.x
By:
- Aplenc, Richard;
- Glatfelter, Wendy;
- Han, Peggy;
- Rappaport, Eric;
- La, Mei;
- Cnaan, Avital;
- Blackwood, M. Anne;
- Lange, Beverly;
- Rebbeck, Timothy
Publication type:
Article
Preclinical evaluation of pemetrexed in pediatric solid tumors.
Published in:
Pediatric Blood & Cancer, 2011, v. 57, n. 7, p. 1233, doi. 10.1002/pbc.23286
By:
- Norris, Robin E.;
- Rappaport, Eric F.;
- Adamson, Peter C.
Publication type:
Article
Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
Published in:
2015
By:
- Kelsen, Judith R;
- Dawany, Noor;
- Martinez, Alejandro;
- Grochowski, Christopher M;
- Maurer, Kelly;
- Rappaport, Eric;
- Piccoli, David A;
- Baldassano, Robert N;
- Mamula, Petar;
- Sullivan, Kathleen E;
- Devoto, Marcella
Publication type:
corrected article
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
Published in:
2015
By:
- Kelsen, Judith R;
- Dawany, Noor;
- Martinez, Alejandro;
- Martinez, Alejuandro;
- Grochowski, Christopher M;
- Maurer, Kelly;
- Rappaport, Eric;
- Piccoli, David A;
- Baldassano, Robert N;
- Mamula, Petar;
- Sullivan, Kathleen E;
- Devoto, Marcella
Publication type:
journal article
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.
Published in:
Human Mutation, 2011, v. 32, n. 1, p. 91, doi. 10.1002/humu.21395
By:
- Busse, Tracy;
- Graham, John M.;
- Feldman, Gerald;
- Perin, Juan;
- Catherwood, Anne;
- Knowlton, Robert;
- Rappaport, Eric F.;
- Emanuel, Beverly;
- Driscoll, Deborah A.;
- Saitta, Sulagna C.
Publication type:
Article
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.
Published in:
Human Mutation, 2006, v. 27, n. 5, p. 467, doi. 10.1002/humu.20322
By:
- Ming, Jeffrey E.;
- Geiger, Elizabeth;
- James, Alison C.;
- Ciprero, Karen L.;
- Nimmakayalu, Manjunath;
- Zhang, Yi;
- Huang, Andrew;
- Vaddi, Madhavi;
- Rappaport, Eric;
- Zackai, Elaine H.;
- Shaikh, Tamim H.
Publication type:
Article
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
Published in:
Human Mutation, 2002, v. 20, n. 4, p. 312, doi. 10.1002/humu.10127
By:
- Ferraris, Alessandro;
- Rappaport, Eric;
- Santacroce, Rosa;
- Pollak, Eleanor;
- Krantz, Ian;
- Toth, Stephen;
- Lysholm, Frida;
- Margaglione, Maurizio;
- Restagno, Gabriella;
- Dallapiccola, Bruno;
- Surrey, Saul;
- Fortina, Paolo
Publication type:
Article
Correction to: HnRNPA2 is a novel histone acetyltransferase that mediates mitochondrial stress-induced nuclear gene expression.
Published in:
2019
By:
- Guha, Manti;
- Srinivasan, Satish;
- Guja, Kip;
- Mejia, Edison;
- Garcia-Diaz, Miguel;
- Johnson, F Brad;
- Ruthel, Gordon;
- Kaufman, Brett A;
- Rappaport, Eric F;
- Glineburg, M Rebecca;
- Fang, Ji-Kang;
- Klein-Szanto, Andres J;
- Nakagawa, Hiroshi;
- Basha, Jeelan;
- Kundu, Tapas;
- Avadhani, Narayan G
Publication type:
Correction Notice
Correction to: HnRNPA2 is a novel histone acetyltransferase that mediates mitochondrial stress-induced nuclear gene expression.
Published in:
2019
By:
- Guha, Manti;
- Srinivasan, Satish;
- Guja, Kip;
- Mejia, Edison;
- Garcia-Diaz, Miguel;
- Johnson, F Brad;
- Ruthel, Gordon;
- Kaufman, Brett A;
- Rappaport, Eric F;
- Glineburg, M Rebecca;
- Fang, Ji-Kang;
- Klein-Szanto, Andres J;
- Nakagawa, Hiroshi;
- Basha, Jeelan;
- Kundu, Tapas;
- Avadhani, Narayan G
Publication type:
Correction Notice
Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 9, p. 1605, doi. 10.1093/hmg/6.9.1605
By:
- Zelante, Leopoldo;
- Gasparini, Paolo;
- Estivill, Xavier;
- Melchionda, Salvatore;
- D'Agruma, Leonardo;
- Govea, Nancy;
- Milá, Monserrat;
- Della Monica, Matteo;
- Lutfi, Jaber;
- Shohat, Mordechai;
- Mansfield, Elaine;
- Delgrosso, Kathleen;
- Rappaport, Eric;
- Surrey, Saul;
- Fortina, Paolo
Publication type:
Article

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