Cohesin embraces new phenotypes

af Krantz, Ian D
Udgivet i Nat Genet (2014)

On the Molecular Etiology of Cornelia de Lange Syndrome

af Dorsett, Dale, Krantz, Ian D.
Udgivet 2009

Cohesin and Human Disease

af Liu, Jinglan, Krantz, Ian D.
Udgivet i Annu Rev Genomics Hum Genet (2008)

Spectrum and Consequences of SMC1A Mutations: The Unexpected Involvement of a Core Component of Cohesin in Human Disease

af Mannini, Linda, Liu, Jinglan, Krantz, Ian D., Musio, Antonio
Udgivet 2010

Characterization of DNA methylation and its association with other biological systems in lymphoblastoid cell lines

af Zhang, Zhe, Liu, Jinglan, Kaur, Maninder, Krantz, Ian D.
Udgivet i Genomics (2012)

Detailed Assessment of the Ear in Cornelia de Lange Syndrome: Comparison with a Control Sample Using the New Dysmorphology Guidelines

af Hunter, Alasdair GW, Collins, Julianne S, Deardorff, Matthew A, Krantz, Ian D
Udgivet 2009

Mutation Spectrum and Genotype–Phenotype Correlation in Cornelia de Lange Syndrome

af Mannini, Linda, Cucco, Francesco, Quarantotti, Valentina, Krantz, Ian D., Musio, Antonio
Udgivet 2013

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR

af Yuen, Kobe C., Xu, Baoshan, Krantz, Ian D., Gerton, Jennifer L.
Udgivet i Cell Rep (2015)

Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister–Killian syndrome

af Filloux, Francis M., Carey, John C., Krantz, Ian D., Ekstrand, Jeffrey J., Candee, Meghan S.
Udgivet 2012

Dominant Paternal Transmission of Cornelia de Lange Syndrome: A New Case and Review of 25 Previously Reported Familial Recurrences

af Russell, Karen L., Ming, Jeffrey E., Patel, Ketan, Jukofsky, Lori, Magnusson, Mark, Krantz, Ian D.
Udgivet i Am J Med Genet (2001)

Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

af Wang, Kai, Dickson, Samuel P., Stolle, Catherine A., Krantz, Ian D., Goldstein, David B., Hakonarson, Hakon
Udgivet 2010

The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome

af Lambert, Michele P., Jackson, Laird G., Clark, Dinah, Kaur, Mani, Krantz, Ian D., Deardorff, Matthew A.
Udgivet 2010

Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR

af Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke
Udgivet i Mol Genet Genomic Med (2016)

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes

af Schindler, Emma A., Gilbert, Melissa A., Piccoli, David A., Spinner, Nancy B., Krantz, Ian D., Loomes, Kathleen M.
Udgivet i Am J Med Genet A (2020)

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...

af DeScipio, Cheryl, Kaur, Maninder, Yaeger, Dinah, Innis, Jeffrey W., Spinner, Nancy B., Jackson, Laird G., Krantz, Ian D.
Udgivet i Am J Med Genet A (2005)

Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells With Distinct Mutations in SMC1A and SMC3 Genes

af Gimigliano, Anna, Mannini, Linda, Bianchi, Laura, Puglia, Michele, Deardorff, Matthew A., Menga, Stefania, Krantz, Ian D, Musio, Antonio, Bini, Luca
Udgivet 2012

NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

af McDaniell, Ryan, Warthen, Daniel M., Sanchez-Lara, Pedro A., Pai, Athma, Krantz, Ian D., Piccoli, David A., Spinner, Nancy B.
Udgivet 2006

Precocious Sister Chromatid Separation (PSCS) in Cornelia de Lange Syndrome

af Kaur, Maninder, DeScipio, Cheryl, McCallum, Jennifer, Yaeger, Dinah, Devoto, Marcella, Jackson, Laird G., Spinner, Nancy B., Krantz, Ian D.
Udgivet 2005

Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome

af Kaur, Maninder, Izumi, Kosuke, Wilkens, Alisha B., Chatfield, Kathryn C., Spinner, Nancy B., Conlin, Laura K., Zhang, Zhe, Krantz, Ian D.
Udgivet 2014

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome

af Mannini, Linda, C. Lamaze, Fabien, Cucco, Francesco, Amato, Clelia, Quarantotti, Valentina, Rizzo, Ilaria M, Krantz, Ian D, Bilodeau, Steve, Musio, Antonio
Udgivet i Sci Rep (2015)