CADASIL: Notch signaling defect or protein accumulation problem?

Por Spinner, Nancy B.
Publicado em 2000

Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

Por Tayoun, Ahmad Abou, Krock, Bryan, Spinner, Nancy B.
Publicado no Expert Rev Mol Diagn (2016)

Conditional JAG1 Mutation Shows the Developing Heart Is More Sensitive Than Developing Liver to JAG1 Dosage

Por Lu, Fengmin, Morrissette, Jennifer J. D., Spinner, Nancy B.
Publicado em 2003

Notch signaling in human development and disease

Por Penton, Andrea L., Leonard, Laura D., Spinner, Nancy B.
Publicado em 2012

Jagged1 (JAG1): Structure, Expression, and Disease Associations

Por Grochowski, Christopher M., Loomes, Kathleen M., Spinner, Nancy B.
Publicado no Gene (2015)

Clinical utility gene card for: Alagille Syndrome (ALGS)

Por Leonard, Laura D, Chao, Grace, Baker, Alastair, Loomes, Kathleen, Spinner, Nancy B
Publicado em 2014

Unique forms of human and mouse nuclear receptor corepressor SMRT

Por Ordentlich, Peter, Downes, Michael, Xie, Wen, Genin, Anna, Spinner, Nancy B., Evans, Ronald M.
Publicado em 1999

Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

Por Shackelford, Amy L., Conlin, Laura K., Hummel, Marybeth, Spinner, Nancy B., Wenger, Sharon L.
Publicado em 2013

A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome-Wide Testing in Pediatric Clinical Practice

Por Reiff, Marian, Mueller, Rebecca, Mulchandani, Surabhi, Spinner, Nancy B., Pyeritz, Reed E., Bernhardt, Barbara A.
Publicado em 2013

A Longitudinal Study to Identify Laboratory Predictors of Liver Disease Outcome in Alagille Syndrome

Por Kamath, Binita M., Munoz, Pedro S., Bab, Natalie, Baker, Alastair, Chen, Zhongxue, Spinner, Nancy B., Piccoli, David A.
Publicado em 2010

“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing

Por Reiff, Marian, Bernhardt, Barbara A., Mulchandani, Surabhi, Soucier, Danielle, Cornell, Diana, Pyeritz, Reed E., Spinner, Nancy B.
Publicado em 2012

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

Por Reiff, Marian, Giarelli, Ellen, Bernhardt, Barbara A., Easley, Ebony, Spinner, Nancy B., Sankar, Pamela L., Mulchandani, Surabhi
Publicado no J Autism Dev Disord (2015)

Physicians’ Perspectives on the Uncertainties and Implications of Chromosomal Microarray Testing of Children and Families

Por Reiff, Marian, Ross, Kathryn, Mulchandani, Surabhi, Propert, Kathleen Joy, Pyeritz, Reed E., Spinner, Nancy B., Bernhardt, Barbara A.
Publicado em 2012

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)

Detection of Mutually Exclusive Mosaicism in a Girl with Genotype-Phenotype Discrepancies

Por Luo, Minjie, Mulchandani, Surabhi, Dubbs, Holly A., Swarr, Daniel, Pyle, Louise, Zackai, Elaine H., Spinner, Nancy B., Conlin, Laura K.
Publicado no Am J Med Genet A (2015)

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

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

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

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

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

Alagille Syndrome in a Vietnamese Cohort: Mutation Analysis and Assessment of Facial Features

Por Lin, Henry C., Le Hoang, Phuc, Hutchinson, Anne, Chao, Grace, Gerfen, Jennifer, Loomes, Kathleen M., Krantz, Ian, Kamath, Binita M., Spinner, Nancy B.
Publicado em 2012

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Por Jurkiewicz, Dorota, Gliwicz, Dorota, Ciara, Elżbieta, Gerfen, Jennifer, Pelc, Magdalena, Piekutowska-Abramczuk, Dorota, Kugaudo, Monika, Chrzanowska, Krystyna, Spinner, Nancy B., Krajewska-Walasek, Małgorzata
Publicado em 2014