Search Results - Jackson, Laird

Genetic counseling by Jackson, Laird G.

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Clinical genetics handbook by Jackson, Laird G.

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Prenatal diagnosis of fetal aneuploidies: post-genomic developments by Hahn, Sinuhe, Jackson, Laird G, Zimmermann, Bernhard G

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Phenotypic Information in Genomic Variant Databases Enhances Clinical Care and Research: The ISCA Consortium Experience by Riggs, Erin Rooney, Jackson, Laird, Miller, David T., Van Vooren, Steven

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Women’s experiences receiving abnormal prenatal chromosomal microarray testing results by Bernhardt, Barbara A., Soucier, Danielle, Hanson, Karen, Savage, Melissa S., Jackson, Laird, Wapner, Ronald J.

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The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome by Lambert, Michele P., Jackson, Laird G., Clark, Dinah, Kaur, Mani, Krantz, Ian D., Deardorff, Matthew A.

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Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With... by DeScipio, Cheryl, Kaur, Maninder, Yaeger, Dinah, Innis, Jeffrey W., Spinner, Nancy B., Jackson, Laird G., Krantz, Ian D.

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Precocious Sister Chromatid Separation (PSCS) in Cornelia de Lange Syndrome by Kaur, Maninder, DeScipio, Cheryl, McCallum, Jennifer, Yaeger, Dinah, Devoto, Marcella, Jackson, Laird G., Spinner, Nancy B., Krantz, Ian D.

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Facial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey by Rohatgi, Sarika, Clark, Dinah, Kline, Antonie D., Jackson, Laird G., Pie, Juan, Siu, Victoria, Ramos, Feliciano J., Krantz, Ian D., Deardorff, Matthew A.

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Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies by Clark, Dinah M., Sherer, Ilana, Deardorff, Matthew A., Byrne, Janice L.B., Loomes, Kathleen M., Nowaczyk, Malgorzata J.M., Jackson, Laird G., Krantz, Ian D.

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Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis by Chatfield, Kathryn C., Schrier, Samantha A., Li, Jennifer, Clark, Dinah, Kaur, Maninder, Kline, Antonie D., Deardorff, Matthew A., Jackson, Laird S., Goldmuntz, Elizabeth, Krantz, Ian D.

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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation by Pehlivan, Davut, Hullings, Melanie, Carvalho, Claudia M.B., Gonzaga-Jauregui, Claudia G., Loy, Elizabeth, Jackson, Laird G., Krantz, Ian D., Deardorff, Matthew A., Lupski, James R.

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Exclusion of Linkage to the CDL1 Gene Region on Chromosome 3q26.3 in Some Familial Cases of Cornelia de Lange Syndrome by Krantz, Ian D., Tonkin, Emma, Smith, Melanie, Devoto, Marcella, Bottani, Armand, Simpson, Claire, Hofreiter, Mary, Abraham, Vinod, Jukofsky, Lori, Conti, Brian P., Strachan, Tom, Jackson, Laird

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Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals with Cornelia de Lange Syndrome and Review of the Literature by Schrier, Samantha A., Sherer, Ilana, Deardorff, Matthew A., Clark, Dinah, Audette, Lynn, Gillis, Lynette, Kline, Antonie D., Ernst, Linda, Loomes, Kathy, Krantz, Ian D., Jackson, Laird G.

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NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations by Gillis, Lynette A., McCallum, Jennifer, Kaur, Maninder, DeScipio, Cheryl, Yaeger, Dinah, Mariani, Allison, Kline, Antonie D., Li, Hui-hua, Devoto, Marcella, Jackson, Laird G., Krantz, Ian D.

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SMC1A Expression and Mechanism of Pathogenicity in Probands with X-linked Cornelia de Lange Syndrome by Liu, Jinglan, Feldman, Rachel, Zhang, Zhe, Deardorff, Matthew A., Haverfield, Eden V., Kaur, Maninder, Li, Jennifer R., Clark, Dinah, Kline, Antonie D., Waggoner, Darrel J., Das, Soma, Jackson, Laird G., Krantz, Ian D.

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Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells by Liu, Jinglan, Zhang, Zhe, 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.

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Clinical Report: Germline Mosaicism in Cornelia de Lange Syndrome by Slavin, Thomas P., Lazebnik, Noam, Clark, Dinah M., Vengoechea, Jaime, Cohen, Leslie, Kaur, Maninder, Konczal, Laura, Crowe, Carol A., Corteville, Jane E., Nowaczyk, Malgorzata J., Byrne, Janice L., Jackson, Laird G., Krantz, Ian D.

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Genome-wide DNA methylation analysis in cohesin mutant human cell lines by Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Li, Jennifer R., Clark, Dinah, Kaur, Maninder, Tatsuro, Kondo, Kline, Antonie D., Chang, Celia, Vega, Hugo, Jackson, Laird G., Spinner, Nancy B., Shirahige, Katsuhiko, Krantz, Ian D.

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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation by Deardorff, Matthew A., Kaur, Maninder, Yaeger, Dinah, Rampuria, Abhinav, Korolev, Sergey, Pie, Juan, Gil-Rodríguez, Concepcion, Arnedo, María, Loeys, Bart, Kline, Antonie D., Wilson, Meredith, Lillquist, Kaj, Siu, Victoria, Ramos, Feliciano J., Musio, Antonio, Jackson, Laird S., Dorsett, Dale, Krantz, Ian D.

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