Cohesin embraces new phenotypes

Por Krantz, Ian D
Publicado no Nat Genet (2014)

On the Molecular Etiology of Cornelia de Lange Syndrome

Por Dorsett, Dale, Krantz, Ian D.
Publicado em 2009

Response to “Germline Mosaicism in Cornelia de Lange Syndrome: Dilemmas and Risk Figures” by Mariani et al

Por Slavin, Thomas P., Krantz, Ian
Publicado em 2013

Cohesin and Human Disease

Por Liu, Jinglan, Krantz, Ian D.
Publicado no Annu Rev Genomics Hum Genet (2008)

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

Por Mannini, Linda, Liu, Jinglan, Krantz, Ian D., Musio, Antonio
Publicado em 2010

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

Por Zhang, Zhe, Liu, Jinglan, Kaur, Maninder, Krantz, Ian D.
Publicado no Genomics (2012)

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

Por Hunter, Alasdair GW, Collins, Julianne S, Deardorff, Matthew A, Krantz, Ian D
Publicado em 2009

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

Por Mannini, Linda, Cucco, Francesco, Quarantotti, Valentina, Krantz, Ian D., Musio, Antonio
Publicado em 2013

Immunologic Features of Cornelia de Lange Syndrome

Por Jyonouchi, Soma, Orange, Jordan, Sullivan, Kathleen E., Krantz, Ian, Deardorff, Matthew
Publicado em 2013

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

Por Yuen, Kobe C., Xu, Baoshan, Krantz, Ian D., Gerton, Jennifer L.
Publicado no Cell Rep (2015)

Rare Variants Create Synthetic Genome-Wide Associations

Por Dickson, Samuel P., Wang, Kai, Krantz, Ian, Hakonarson, Hakon, Goldstein, David B.
Publicado em 2010

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

Por Filloux, Francis M., Carey, John C., Krantz, Ian D., Ekstrand, Jeffrey J., Candee, Meghan S.
Publicado em 2012

Investigation of Autistic Features Among Individuals With Mild to Moderate Cornelia de Lange Syndrome

Por Nakanishi, Mariko, Deardorff, Matthew A., Clark, Dinah, Levy, Susan E., Krantz, Ian, Pipan, Mary
Publicado em 2012

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

Por Russell, Karen L., Ming, Jeffrey E., Patel, Ketan, Jukofsky, Lori, Magnusson, Mark, Krantz, Ian D.
Publicado no Am J Med Genet (2001)

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

Por Wang, Kai, Dickson, Samuel P., Stolle, Catherine A., Krantz, Ian D., Goldstein, David B., Hakonarson, Hakon
Publicado em 2010

The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome

Por Lambert, Michele P., Jackson, Laird G., Clark, Dinah, Kaur, Mani, Krantz, Ian D., Deardorff, Matthew A.
Publicado em 2010

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

Por Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke
Publicado no Mol Genet Genomic Med (2016)

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...

Por DeScipio, Cheryl, Kaur, Maninder, Yaeger, Dinah, Innis, Jeffrey W., Spinner, Nancy B., Jackson, Laird G., Krantz, Ian D.
Publicado no 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

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

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

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