Recent advances in prenatal genetic screening and testing

Por Van den Veyver, Ignatia B.
Publicado no F1000Res (2016)

Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders

Por Van den Veyver, Ignatia B., Eng, Christine M.
Publicado no Cold Spring Harb Perspect Med (2015)

Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis

Por Westerfield, Lauren, Darilek, Sandra, van den Veyver, Ignatia B.
Publicado no J Clin Med (2014)

Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care?

Por Chandrasekharan, Subhashini, McGuire, Amy L., Van den Veyver, Ignatia B.
Publicado no Prenat Diagn (2014)

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

Por Mahadevan, Sangeetha, Sathappan, Varsha, Utama, Budi, Lorenzo, Isabel, Kaskar, Khalied, Van den Veyver, Ignatia B.
Publicado no Sci Rep (2017)

Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients

Por Wong, Bibiana K. Y., Sutton, Vernon R., Lewis, Richard A., Van den Veyver, Ignatia B.
Publicado no Mol Genet Genomic Med (2017)

Erratum: Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

Por Mahadevan, Sangeetha, Sathappan, Varsha, Utama, Budi, Lorenzo, Isabel, Kaskar, Khalied, Van den Veyver, Ignatia B.
Publicado no Sci Rep (2017)

Terminal Osseous Dysplasia with Pigmentary Defects Maps to Human Chromosome Xq27.3-Xqter

Por Zhang, Wenzheng, Amir, Ruthie, Stockton, David W., Van den Veyver, Ignatia B., Bacino, Carlos A., Zoghbi, Huda Y.
Publicado em 2000

Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients

Por Delgado, Ivan J, Kim, Dong Sun, Thatcher, Karen N, LaSalle, Janine M, Van den Veyver, Ignatia B
Publicado em 2006

Ophthalmologic findings in Aicardi syndrome

Por Fruhman, Gary, Eble, Tanya N., Gambhir, Nikki, Sutton, V. Reid, Van den Veyver, Ignatia B., Lewis, Richard A.
Publicado em 2012

A genome-wide screen for copy number alterations in an adolescent pilot cohort with Müllerian anomalies

Por Murry, Jaclyn B., Santos, Xiomara, Wang, Xiaoling, Wan, Ying-Wooi, Van den Veyver, Ignatia B., Dietrich, Jennifer E.
Publicado no Fertil Steril (2014)

Chronic Maternal Low-Protein Diet in Mice Affects Anxiety, Night-Time Energy Expenditure and Sleep Patterns, but Not Circadian Rhythm in Male Offspring

Por Crossland, Randy F., Balasa, Alfred, Ramakrishnan, Rajesh, Mahadevan, Sangeetha K., Fiorotto, Marta L., Van den Veyver, Ignatia B.
Publicado no PLoS One (2017)

A Genome-Wide Screen for Copy Number Alterations in Aicardi Syndrome

Por Wang, Xiaoling, Sutton, V. Reid, Eble, Tanya, Lewis, Richard Alan, Gunaratne, Preethi, Patel, Ankita, Van den Veyver, Ignatia B.
Publicado em 2009

Terminal Osseous Dysplasia With Pigmentary Defects (TODPD): Follow-Up of the First Reported Family, Characterization of the Radiological Phenotype, and Refinement of the Linkage Re...

Por Brunetti-Pierri, Nicola, Lachman, Ralph, Lee, Kwanghyuk, Leal, Suzanne M., Piccolo, Pasquale, Van den Veyver, Ignatia B., Bacino, Carlos A.
Publicado em 2010

Deletion of Porcn in Mice Leads to Multiple Developmental Defects and Models Human Focal Dermal Hypoplasia (Goltz Syndrome)

Por Liu, Wei, Shaver, Timothy M., Balasa, Alfred, Ljungberg, M. Cecilia, Wang, Xiaoling, Wen, Shu, Nguyen, Hoang, Van den Veyver, Ignatia B.
Publicado em 2012

Goltz syndrome: report of two severe cases

Por Scott, Riddell W, Pivnick, Eniko K, Dowell, Stacy H, Eubanks, James W, Huang, Eunice Y, Van den Veyver, Ignatia B, Wang, Xiaoling
Publicado em 2009

Non-random X chromosome inactivation in Aicardi syndrome

Por Eble, Tanya N., Sutton, V. Reid, Sangi-Haghpeykar, Haleh, Wang, Xiaoling, Jin, Weihong, Lewis, Richard A., Fang, Ping, Van den Veyver, Ignatia B.
Publicado em 2009

Chronic Maternal Protein Deprivation in Mice Is Associated with Overexpression of the Cohesin-Mediator Complex in Liver of Their Offspring(2)

Por Balasa, Alfred, Sanchez-Valle, Amarilis, Sadikovic, Bekim, Sangi-Haghpeykar, Haleh, Bravo, Jaclyn, Chen, Liang, Liu, Wei, Wen, Shu, Fiorotto, Marta L., Van den Veyver, Ignatia B.
Publicado em 2011

Prenatal Diagnosis of CLOVES Syndrome Confirmed by Detection of a Mosaic PIK3CA Mutation in Cultured Amniocytes

Por Emrick, Lisa T., Murphy, Lauren, Shamshirsaz, Alireza A., Ruano, Rodrigo, Cassady, Christopher I., Liu, Liu, Chang, Fengqi, Sutton, V. Reid, Li, Marilyn, Van den Veyver, Ignatia B.
Publicado no Am J Med Genet A (2014)

NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation

Por Mahadevan, Sangeetha, Wen, Shu, Wan, Ying-Wooi, Peng, Hsiu-Huei, Otta, Subhendu, Liu, Zhandong, Iacovino, Michelina, Mahen, Elisabeth M., Kyba, Michael, Sadikovic, Bekim, Van den Veyver, Ignatia B.
Publicado em 2014