Blastopathies and microcephaly in a Chornobyl impacted region of Ukraine
Wertelecki, Wladimir, Yevtushok, Lyubov, Zymak-Zakutnia, Natalia, Wang, Bin, Sosyniuk, Zoriana, Lapchenko, Serhiy, Hobart, Holly H.
Published in Congenital anomalies (01.08.2014)
Published in Congenital anomalies (01.08.2014)
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Down-regulation of replication factor C-40 (RFC40) causes chromosomal missegregation in neonatal and hypertrophic adult rat cardiac myocytes
Ata, Hirotaka, Shrestha, Deepa, Oka, Masahiko, Ochi, Rikuo, Jong, Chian Ju, Gebb, Sarah, Benjamin, John, Schaffer, Stephen, Hobart, Holly H, Downey, James, McMurtry, Ivan, Gupte, Rakhee
Published in PloS one (14.06.2012)
Published in PloS one (14.06.2012)
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Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome
Pani, Ariel M, Hobart, Holly H, Morris, Colleen A, Mervis, Carolyn B, Bray-Ward, Patricia, Kimberley, Kendra W, Rios, Cecilia M, Clark, Robin C, Gulbronson, Maricela D, Gowans, Gordon C, Gregg, Ronald G
Published in PloS one (31.08.2010)
Published in PloS one (31.08.2010)
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Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11
Marshall, Christian R., Young, Edwin J., Pani, Ariel M., Freckmann, Mary-Louise, Lacassie, Yves, Howald, Cédric, Fitzgerald, Kristi K., Peippo, Maarit, Morris, Colleen A., Shane, Kate, Priolo, Manuela, Morimoto, Masafumi, Kondo, Ikuko, Manguoglu, Esra, Berker-Karauzum, Sibel, Edery, Patrick, Hobart, Holly H., Mervis, Carolyn B., Zuffardi, Orsetta, Reymond, Alexandre, Kaplan, Paige, Tassabehji, May, Gregg, Ronald G., Scherer, Stephen W., Osborne, Lucy R.
Published in American journal of human genetics (01.07.2008)
Published in American journal of human genetics (01.07.2008)
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Journal Article
BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
Kimberley, Kendra W, Morris, Colleen A, Hobart, Holly H
Published in BMC medical genetics (18.05.2006)
Published in BMC medical genetics (18.05.2006)
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Journal Article
Heat shock protein 27 gene: Chromosomal and molecular location and relationship to Williams syndrome
Stock, A. Dean, Spallone, Patricia A., Dennis, Thomas R., Netski, Dale, Morris, Colleen A., Mervis, Carolyn B., Hobart, Holly H.
Published in American journal of medical genetics. Part A (30.07.2003)
Published in American journal of medical genetics. Part A (30.07.2003)
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Journal Article
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome
Hobart, Holly H., Morris, Colleen A., Mervis, Carolyn B., Pani, Ariel M., Kistler, Doris J., Rios, Cecilia M., Kimberley, Kendra W., Gregg, Ronald G., Bray-Ward, Patricia
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.05.2010)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.05.2010)
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GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region
Morris, Colleen A., Mervis, Carolyn B., Hobart, Holly H., Gregg, Ronald G., Bertrand, Jacquelyn, Ensing, Gregory J., Sommer, Annemarie, Moore, Cynthia A., Hopkin, Robert J., Spallone, Patricia A., Keating, Mark T., Osborne, Lucy, Kimberley, Kendra W., Stock, A. Dean
Published in American journal of medical genetics. Part A (15.11.2003)
Published in American journal of medical genetics. Part A (15.11.2003)
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Bilateral semilunar valve disease in a child with partial deletion of the Williams-Beuren syndrome region is associated with elastin haploinsufficiency
Hinton, Jr, Robert B, Deutsch, Gail H, Pearl, Jeffrey M, Hobart, Holly H, Morris, Colleen A, Benson, D Woodrow
Published in The Journal of heart valve disease (01.05.2006)
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Published in The Journal of heart valve disease (01.05.2006)
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Distribution of non-telomeric sites of the (TTAGGG)n telomeric sequence in vertebrate chromosomes
Meyne, J, Baker, R J, Hobart, H H, Hsu, T C, Ryder, O A, Ward, O G, Wiley, J E, Wurster-Hill, D H, Yates, T L, Moyzis, R K
Published in Chromosoma (01.04.1990)
Published in Chromosoma (01.04.1990)
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Down-Regulation of Replication Factor C-40
Ata, Hirotaka, Shrestha, Deepa, Oka, Masahiko, Ochi, Rikuo, Jong, Chian Ju, Gebb, Sarah, Benjamin, John, Schaffer, Stephen, Hobart, Holly H, Downey, James, McMurtry, Ivan, Gupte, Rakhee
Published in PloS one (14.06.2012)
Published in PloS one (14.06.2012)
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Inversion of the Williams Syndrome Region Is a Common Polymorphism Found More Frepuently in Parents of Children With Williams Syndrome: Williams Syndrome
HOBART, Holly H, MORRIS, Colleen A, MERVIS, Carolyn B, PANI, Ariel M, KISTLER, Doris J, RIOS, Cecilia M, KIMBERLEY, Kendra W, GREGG, Ronald G, BRAY-WARD, Patricia
Published in American journal of medical genetics. Part C, Seminars in medical genetics (2010)
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Published in American journal of medical genetics. Part C, Seminars in medical genetics (2010)
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