Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Mundlos, S, Otto, F, Mundlos, C, Mulliken, J.B, Aylsworth, A.S, Albright, S, Lindhout, D, Cole, W.G, Henn, W, Knoll, J.H.M, Owen, M.J, Mertelsmann, R, Zabel, B.U, Olsen, B.R
Published in Cell (30.05.1997)
Published in Cell (30.05.1997)
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Journal Article
Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia
Quack, I., Vonderstrass, B., Stock, M., Aylsworth, AS, Becker, A., Brueton, L., Lee, PJ, Majewski, F., Mulliken, JB, Suri, M., Zenker, M., Mundlos, S., Otto, F.
Published in American journal of human genetics (01.11.1999)
Published in American journal of human genetics (01.11.1999)
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Journal Article
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome
Zak, J, Vives, V, Szumska, D, Vernet, A, Schneider, J E, Miller, P, Slee, E A, Joss, S, Lacassie, Y, Chen, E, Escobar, L F, Tucker, M, Aylsworth, A S, Dubbs, H A, Collins, A T, Andrieux, J, Dieux-Coeslier, A, Haberlandt, E, Kotzot, D, Scott, D A, Parker, M J, Zakaria, Z, Choy, Y S, Wieczorek, D, Innes, A M, Jun, K R, Zinner, S, Prin, F, Lygate, C A, Pretorius, P, Rosenfeld, J A, Mohun, T J, Lu, X
Published in Cell death and differentiation (01.12.2016)
Published in Cell death and differentiation (01.12.2016)
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Journal Article
A molecular approach to dominance in hypophosphatasia
Lia-Baldini, A S, Muller, F, Taillandier, A, Gibrat, J F, Mouchard, M, Robin, B, Simon-Bouy, B, Serre, J L, Aylsworth, A S, Bieth, E, Delanote, S, Freisinger, P, Hu, J C, Krohn, H P, Nunes, M E, Mornet, E
Published in Human genetics (01.07.2001)
Published in Human genetics (01.07.2001)
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Journal Article
Genetic Studies of Autistic Disorder and Chromosome 7
Ashley-Koch, A., Wolpert, C.M., Menold, M.M., Zaeem, L., Basu, S., Donnelly, S.L., Ravan, S.A., Powell, C.M., Qumsiyeh, M.B., Aylsworth, A.S., Vance, J.M., Gilbert, J.R., Wright, H.H., Abramson, R.K., DeLong, G.R., Cuccaro, M.L., Pericak-Vance, M.A.
Published in Genomics (San Diego, Calif.) (01.11.1999)
Published in Genomics (San Diego, Calif.) (01.11.1999)
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Journal Article
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1
Stamm, D S, Powell, C M, Stajich, J M, Zismann, V L, Stephan, D A, Chesnut, B, Aylsworth, A S, Kahler, S G, Deak, K L, Gilbert, J R, Speer, M C
Published in Neurology (25.11.2008)
Published in Neurology (25.11.2008)
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A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
Bellus, Gary A, McIntosh, Iain, Smith, E. Anne, Aylsworth, Arthur S, Kaitila, Ilkka, Horton, William A, Greenhaw, Giselle A, Hecht, Jacqueline T, Francomano, Clair A
Published in Nature genetics (01.07.1995)
Published in Nature genetics (01.07.1995)
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Journal Article
New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome
Smith, A.C., Rubin, T., Shuman, C., Estabrooks, L., Aylsworth, A.S., McDonald, M.T., Steele, L., Ray, P.N., Weksberg, R.
Published in Cytogenetic and genome research (01.03.2006)
Published in Cytogenetic and genome research (01.03.2006)
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Journal Article
Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10
Rampersaud, E, Bassuk, A G, Enterline, D S, George, T M, Siegel, D G, Melvin, E C, Aben, J, Allen, J, Aylsworth, A, Brei, T, Bodurtha, J, Buran, C, Floyd, L E, Hammock, P, Iskandar, B, Ito, J, Kessler, J A, Lasarsky, N, Mack, P, Mackey, J, McLone, D, Meeropol, E, Mehltretter, L, Mitchell, L E, Oakes, W J, Nye, J S, Powell, C, Sawin, K, Stevenson, R, Walker, M, West, S G, Worley, G, Gilbert, J R, Speer, M C
Published in Journal of medical genetics (01.12.2005)
Published in Journal of medical genetics (01.12.2005)
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Journal Article
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene
Heim, R A, Kam-Morgan, L N, Binnie, C G, Corns, D D, Cayouette, M C, Farber, R A, Aylsworth, A S, Silverman, L M, Luce, M C
Published in Human molecular genetics (01.06.1995)
Published in Human molecular genetics (01.06.1995)
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P63 mutations are not a major cause of non-syndromic split hand/foot malformation
de Mollerat, X J, Everman, D B, Morgan, C T, Clarkson, K B, Rogers, R C, Colby, R S, Aylsworth, A S, Graham, J M, Stevenson, R E, Schwartz, C E
Published in Journal of medical genetics (01.01.2003)
Published in Journal of medical genetics (01.01.2003)
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Journal Article
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS)
Du, Y Z, Dickerson, C, Aylsworth, A S, Schwartz, C E
Published in Journal of medical genetics (01.06.1998)
Published in Journal of medical genetics (01.06.1998)
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Journal Article
Maternal Body Mass Index and Lifestyle Exposures and the Risk of Bilateral Renal Agenesis or Hypoplasia : The National Birth Defects Prevention Study
SLICKERS, Jennifer E, OLSHAN, Andrew F, SIEGA-RIZ, Anna Maria, HONEIN, Margaret A, AYLSWORTH, Arthur S
Published in American journal of epidemiology (01.12.2008)
Published in American journal of epidemiology (01.12.2008)
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Journal Article
MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 2 AND CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 IN A FETUS WITH INTRAUTERINE GROWTH RESTRICTION, HYPOSPADIAS, AND OLIGOHYDRAMNIOS
HANSEN, WENDY F., BERNARD, LYNN E., LANGLOIS, SYLVIE, RAO, KATHLEEN W., CHESCHEIR, NANCY C., AYLSWORTH, ARTHUR S., SMITH, D. IAN, ROBINSON, WENDY P., BARRETT, IRENE J., KALOUSEK, DAGMAR K.
Published in Prenatal diagnosis (01.05.1997)
Published in Prenatal diagnosis (01.05.1997)
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Journal Article
Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome
Estabrooks, L L, Lamb, A N, Aylsworth, A S, Callanan, N P, Rao, K W
Published in Journal of medical genetics (01.02.1994)
Published in Journal of medical genetics (01.02.1994)
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Journal Article
Conference Proceeding
Similarities of EEG and seizures in del(1q) and benign rolandic epilepsy
Vaughn, Bradley V., Greenwood, Robert S., Aylsworth, Arthur S., Tennison, Michael B.
Published in Pediatric neurology (01.10.1996)
Published in Pediatric neurology (01.10.1996)
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Journal Article
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
Shaffer, Lisa G, Theisen, Aaron, Bejjani, Bassem A, Ballif, Blake C, Aylsworth, Arthur S, Lim, Cynthia, McDonald, Marie, Ellison, Jay W, Kostiner, Dana, Saitta, Sulagna, Shaikh, Tamim
Published in Genetics in medicine (01.09.2007)
Published in Genetics in medicine (01.09.2007)
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Journal Article
Monozygotic twins discordant for partial trisomy 1
Watson, W J, Katz, V L, Albright, S G, Rao, K W, Aylsworth, A S
Published in Obstetrics and gynecology (New York. 1953) (01.11.1990)
Published in Obstetrics and gynecology (New York. 1953) (01.11.1990)
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