Search Results - "Hain, J Zenger"

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations by Tran-Fadulu, V, Pannu, H, Kim, D H, Vick, 3rd, G W, Lonsford, C M, Lafont, A L, Boccalandro, C, Smart, S, Peterson, K L, Hain, J Zenger, Willing, M C, Coselli, J S, LeMaire, S A, Ahn, C, Byers, P H, Milewicz, D M

“…Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic…”
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The impact of maternal serum screening programs for Down syndrome in southeast Michigan, 1988-2003 by Van Dyke, D. L., Ebrahim, S. A., Al Saadi, A. A., Powell, S. A., Zenger-Hain, J. L., Micale, M. A., Wiktor, A. E., Zou, Y. S.

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X-inactivation pattern in an Ullrich-Turner syndrome patient with a small ring X and normal intelligence by Zenger-Hain, J L, Wiktor, A, Goldman, J, Van Dyke, D L, Weiss, L

“…In a description of 8 girls who had Ullrich-Turner syndrome (UTS) with a small r(X), mental retardation, and other unusual findings, it was hypothesized that…”
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Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies by Zenger-Hain, J L, Roberson, J, Van Dyke, D L, Weiss, L

“…We describe a 4-year-old boy with an interstitial deletion of the long arm of chromosome 10: del(10) (q11.2q22.1). Frontal bossing, hypertelorism, bright blue…”
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Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter) by Scheuerle, A, Zenger-Hain, J L, Van Dyke, D L, Ledbetter, D H, Greenberg, F, Shaffer, L G

“…We present a patient with a chromosomal mosaicism involving the X chromosome. One cell line is 45,X and the other has a de novo paternally derived dicentric…”
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Diagnosis of inborn errors of phytanic acid oxidation using tritiated phytanic acid by Zenger-Hain, J, Craft, D A, Rizzo, W B

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Clinical and molecular characterization of patients with distal 11q deletions by PENNY, L. A, DELL'AQUILA, M, SYME, J, VOULLAIRE, L, ZELANTE, L, ZENGER-HAIN, J, JONES, O. W, EVANS, G. A, JONES, M. C, BERGOFFEN, J, CUNNIFF, C, FRYNS, J.-P, GRACE, E, GRAHAM, J. M, KOUSSEFF, B, MATTINA, T

“…Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mild to moderate psychomotor…”
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Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization by Zenger-Hain, J L, Van Dyke, D L, Wiktor, A, Walker, H, Feldman, G L

“…Duplication of the short arm of chromosome 5 [dup(5)(p13.1p15.3)] has been associated with craniofacial malformations, cardiac defects, renal and intestinal…”
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Mosaicism for trisomy 12: four cases with varying outcomes by Bischoff, F Z, Zenger-Hain, J, Moses, D, Van Dyke, D L, Shaffer, L G

“…Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report,…”
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Detection of mosaicism in amniotic fluid cultures: a CYTO2000 collaborative study by Ing, P S, Van Dyke, D L, Caudill, S P, Reidy, J A, Bice, G, Bieber, F R, Buchanan, P D, Carroll, A J, Cheung, S W, DeWald, G, Donahue, R P, Gardner, H A, Higgins, J, Hsu, L Y, Jamehdor, M, Keitges, E A, Laundon, C H, Luthardt, F W, Mascarello, J, May, K M, Meck, J M, Morton, C, Patil, S, Peakman, D, Pettenati, M J, Rao, N, Sanger, W G, Saxe, D F, Schwartz, S, Sekhon, G S, Vance, G H, Wyandt, H E, Yu, C W, Zenger-Hain, J, Chen, A T

“…To evaluate the assumptions on which the American College of Medical Genetics (ACMG) Standards and Guidelines for detecting mosaicism in amniotic fluid…”
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A Multicenter Investigation with D-FISH BCR/ABL1 Probes by Dewald, Gordon, Stallard, Richard, Alsaadi, A., Arnold, Susan, Blough, Ruthann, Ceperich, Tina M., Elejalde, B.Rafael, Fink, James, Higgins, James V., Higgins, Rodney R., Hoeltge, Gerald A., Hsu, Wei-Tong, Johnson, Eric B., Kronberger, Diane, McCorquodale, D.James, Meisner, Lorraine F., Micale, Mark A., Oseth, LeAnn, Payne, Janet S., Schwartz, Stuart, Sheldon, Susan, Sophian, Ardis, Storto, Patrick, Van Tuinen, Peter, Wenger, Gail D., Wiktor, Ann, Willis, Leslie A., Yung, Jar-Fee, Zenger-Hain, Julie

“…Twenty-eight laboratories evaluated a new fluorescence in situ hybridization (FISH) strategy for chronic myeloid leukemia. In a three-part study, bcr/abl1…”
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Toward quality assurance for metaphase FISH: A multicenter experience by Dewald, Gordon W., Stallard, Richard, Bader, Patricia I., Chen, Kathy, Zenger-Hain, Julie, Harris, Catherine J., Higgins, Rodney, Hirsch, Betsy, Hsu, Wei-Tong, Johnson, Eric, Kubic, Virginia, Kurczynski, T.W., Malone, James M., McCorquodale, D. James, Meilinger, Karen, Meisner, Lorraine F., Moore, J.W., Schwartz, Stuart, Siembieda, Steven, Storto, Patrick D., Vance, Gail, Tuinen, Peter Van, Wiktor, Ann, Yung, Jar-Fee

“…Although fluorescent in situ hybridization (FISH) is rapidly becoming a part of clinical cytogenetics, no organization sponsors multicenter determinations of…”
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Toward quality assurance for metaphase FISH: A multi-center experience by Dewald, Gordon, Stallard, Richard, Bader, Patricia I., Chen, Kathy, Zenger-Hain, Julie, Harris, Catherine J., Higgins, Rodney, Hirsch, Betsy, Hsu, Wei-Tong, Johnson, Eric, Kubic, Virginia, Kurczynski, T. W., Malone, James M., McCorquodale, D. James, Meilinger, Karen, Meisner, Lorraine F., Moore, J. W., Schwartz, Stuart, Siembieda, Steven, Storto, Patrick D., Vance, Gail, Van Tuinen, Peter, Wiktor, Ann, Yung, Jar-Fee

“…Although fluorescent in situ hybridization (FISH) is rapidly becoming a part of clinical cytogenetics, no organization sponsors multi‐center determinations of…”
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