genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
Korbel, Jan O, Tirosh-Wagner, Tal, Urban, Alexander Eckehart, Chen, Xiao-Ning, Kasowski, Maya, Dai, Li, Grubert, Fabian, Erdman, Chandra, Gao, Michael C, Lange, Ken, Sobel, Eric M, Barlow, Gillian M, Aylsworth, Arthur S, Carpenter, Nancy J, Clark, Robin Dawn, Cohen, Monika Y, Doran, Eric, Falik-Zaccai, Tzipora, Lewin, Susan O, Lott, Ira T, McGillivray, Barbara C, Moeschler, John B, Pettenati, Mark J, Pueschel, Siegfried M, Rao, Kathleen W, Shaffer, Lisa G, Shohat, Mordechai, Van Riper, Alexander J, Warburton, Dorothy, Weissman, Sherman, Gerstein, Mark B, Snyder, Michael, Korenberg, Julie R
Published in Proceedings of the National Academy of Sciences - PNAS (21.07.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (21.07.2009)
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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene
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Published in American journal of human genetics (01.07.2005)
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
Kato, Mitsuhiro, Das, Soma, Petras, Kristin, Kitamura, Kunio, Morohashi, Ken-ichirou, Abuelo, Diane N., Barr, Mason, Bonneau, Dominique, Brady, Angela F., Carpenter, Nancy J., Cipero, Karen L., Frisone, Francesco, Fukuda, Takayuki, Guerrini, Renzo, Iida, Eri, Itoh, Masayuki, Lewanda, Amy Feldman, Nanba, Yukiko, Oka, Akira, Proud, Virginia K., Saugier-Veber, Pascale, Schelley, Susan L., Selicorni, Angelo, Shaner, Rachel, Silengo, Margherita, Stewart, Fiona, Sugiyama, Noriyuki, Toyama, Jun, Toutain, Annick, Vargas, Ana Lía, Yanazawa, Masako, Zackai, Elaine H., Dobyns, William B.
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Anterior sacral meningocele
Say, B, Carpenter, N J, Coldwell, J G
Published in JAMA : the journal of the American Medical Association (13.06.1977)
Published in JAMA : the journal of the American Medical Association (13.06.1977)
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Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population
Crawford, Dana C., Schwartz, Charles E., Meadows, Kellen L., Newman, James L., Taft, Lisa F., Gunter, Chris, Brown, W. Ted, Carpenter, Nancy J., Howard-Peebles, Patricia N., Monaghan, Kristin G., Nolin, Sarah L., Reiss, Allan L., Feldman, Gerald L., Rohlfs, Elizabeth M., Warren, Stephen T., Sherman, Stephanie L.
Published in American journal of human genetics (01.02.2000)
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Familial mental retardation with an incidental balanced t(12;16) translocation
Barber, N D, Carpenter, N J, Munshi, G, Jones, K, Miller, G C, Say, B
Published in Southern medical journal (Birmingham, Ala.) (01.08.1981)
Published in Southern medical journal (Birmingham, Ala.) (01.08.1981)
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Prenatal Diagnosis of Monosomy 6 and Ring Chromosome 6 in a Fetus with Ventriculomegaly
Anderson, Craig, Carpenter, Nancy J, Siegler, David, Say, Burhan
Published in Pediatric research (01.04.1999)
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Genital malformations in a child with VATER association
Say, B, Carpenter, N J, Smith, E I
Published in American journal of diseases of children (1960) (01.04.1979)
Published in American journal of diseases of children (1960) (01.04.1979)
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Diversity of Cystic Fibrosis Mutation-Screening Practices
Grody, Wayne W., Desnick, Robert J., Carpenter, Nancy J., Noll, Walter W.
Published in American journal of human genetics (01.05.1998)
Published in American journal of human genetics (01.05.1998)
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Maternal serum free beta hCG screening: results of studies including 480 cases of Down syndrome
Macri, J N, Spencer, K, Garver, K, Buchanan, P D, Say, B, Carpenter, N J, Muller, F, Boué, A
Published in Prenatal diagnosis (01.02.1994)
Published in Prenatal diagnosis (01.02.1994)
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A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene
MacDonald, Marcy E., Anderson, Mary Anne, Gilliam, T. Conrad, Tranebjaerg, Lisbeth, Carpenter, Nancy J., Magenis, Ellen, Hayden, Michael R., Healey, Steven T., Bonner, Tom I., Gusella, James F.
Published in Genomics (San Diego, Calif.) (01.09.1987)
Published in Genomics (San Diego, Calif.) (01.09.1987)
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