GFAP mutations, age at onset, and clinical subtypes in Alexander disease
Prust, M, Wang, J, Morizono, H, Messing, A, Brenner, M, Gordon, E, Hartka, T, Sokohl, A, Schiffmann, R, Gordish-Dressman, H, Albin, R, Amartino, H, Brockman, K, Dinopoulos, A, Dotti, M T, Fain, D, Fernandez, R, Ferreira, J, Fleming, J, Gill, D, Griebel, M, Heilstedt, H, Kaplan, P, Lewis, D, Nakagawa, M, Pedersen, R, Reddy, A, Sawaishi, Y, Schneider, M, Sherr, E, Takiyama, Y, Wakabayashi, K, Gorospe, J R, Vanderver, A
Published in Neurology (27.09.2011)
Published in Neurology (27.09.2011)
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Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality
Heilstedt, HA, Ballif, BC, Howard, LA, Kashork, CD, Shaffer, LG
Published in Clinical genetics (01.10.2003)
Published in Clinical genetics (01.10.2003)
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Molecular Refinement of the 1p36 Deletion Syndrome Reveals Size Diversity and a Preponderance of Maternally Derived Deletions
Wu, Yuan-Qing, Heilstedt, Heidi A., Bedell, Joseph A., May, Kristin M., Starkey, David E., McPherson, John D., Shapira, Stuart K., Shaffer, Lisa G.
Published in Human molecular genetics (01.02.1999)
Published in Human molecular genetics (01.02.1999)
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Journal Article
Loss of the Potassium Channel β‐Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome
Heilstedt, Heidi A., Burgess, Daniel L., Anderson, Anne E., Chedrawi, Aziza, Tharp, Barry, Lee, Olivia, Kashork, Catherine D., Starkey, David E., Wu, Yuan‐Qing, Noebels, Jeffrey L., Shaffer, Lisa G., Shapira, Stuart K.
Published in Epilepsia (Copenhagen) (01.09.2001)
Published in Epilepsia (Copenhagen) (01.09.2001)
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Differential phylogenetic footprinting as a means to identify base changes responsible for recruitment of the anthropoid gamma gene to a fetal expression pattern
GUMUCIO, D. L, SHELTON, D. A, BLANCHARD-MCQUATE, K, GRAY, T, TARLE, S, HEILSTEDT-WILLIMASON, H, SLIGHTOM, J. L, COLLINS, F, GOODMAN, M
Published in The Journal of biological chemistry (27.05.1994)
Published in The Journal of biological chemistry (27.05.1994)
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Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human gamma and epsilon globin genes
Gumucio, D L, Heilstedt-Williamson, H, Gray, T A, Tarlé, S A, Shelton, D A, Tagle, D A, Slightom, J L, Goodman, M, Collins, F S
Published in Molecular and Cellular Biology (01.11.1992)
Published in Molecular and Cellular Biology (01.11.1992)
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Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome
Bacino, C A, Stockton, D W, Sierra, R A, Heilstedt, H A, Lewandowski, R, Van den Veyver, I B
Published in American journal of medical genetics (11.09.2000)
Published in American journal of medical genetics (11.09.2000)
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Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome
Johnston, Jennifer J., Olivos-Glander, Isabelle, Turner, Joyce, Aleck, Kyrieckos, Bird, Lynne M., Mehta, Lakshmi, Schimke, R. Neil, Heilstedt, Heidi, Spence, J. Edward, Blancato, Jan, Biesecker, Leslie G.
Published in American journal of medical genetics. Part A (15.12.2003)
Published in American journal of medical genetics. Part A (15.12.2003)
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Journal Article
Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome
Heilstedt, Heidi A., Ballif, Blake C., Howard, Leslie A., Lewis, Richard A., Stal, Samuel, Kashork, Catherine D., Bacino, Carlos A., Shapira, Stuart K., Shaffer, Lisa G.
Published in American journal of human genetics (01.05.2003)
Published in American journal of human genetics (01.05.2003)
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Journal Article
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski −/− mice
Colmenares, Clemencia, Heilstedt, Heidi A, Shaffer, Lisa G, Schwartz, Stuart, Berk, Michael, Murray, Jeffrey C, Stavnezer, Ed
Published in Nature genetics (01.01.2002)
Published in Nature genetics (01.01.2002)
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Journal Article
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
Yu, Wei, Ballif, Blake C., Kashork, Catherine D., Heilstedt, Heidi A., Howard, Leslie A., Cai, Wei-Wen, White, Lisa D., Liu, Wenbin, Beaudet, Arthur L., Bejjani, Bassem A., Shaw, Chad A., Shaffer, Lisa G.
Published in Human molecular genetics (01.09.2003)
Published in Human molecular genetics (01.09.2003)
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Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure
Gajecka, Marzena, Yu, Wei, Ballif, Blake C, Glotzbach, Caron D, Bailey, Kristen A, Shaw, Chad A, Kashork, Catherine D, Heilstedt, Heidi A, Ansel, David A, Theisen, Aaron, Rice, Ritva, Rice, David P C, Shaffer, Lisa G
Published in European journal of human genetics : EJHG (01.02.2005)
Published in European journal of human genetics : EJHG (01.02.2005)
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A Novel GJB2 (Connexin 26) Mutation, F142L, in a Patient with Unusual Mucocutaneous Findings and Deafness
Brown, Chester W., Levy, Moise L., Flaitz, Catherine M., Reid, Barbara S., Manolidis, Spiros, Hebert, Adelaide A., Bender, Matthew M., Heilstedt, Heidi A., Plunkett, Katie S., Fang, Ping, Roa, Benjamin B., Chung, Pil, Tang, Hsiao-Yuan, Richard, Gabriele, Alford, Raye L.
Published in Journal of investigative dermatology (01.11.2003)
Published in Journal of investigative dermatology (01.11.2003)
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Journal Article
Loss of the SKI protooncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski super(-/-) mice
Colmenares, C, Heilstedt, HA, Shaffer, L G, Schwartz, S, Berk, M, Murray, J C, Stavnezer, E
Published in Nature genetics (01.01.2002)
Published in Nature genetics (01.01.2002)
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Journal Article
Infantile hypotonia as a presentation of Rett syndrome
Heilstedt, Heidi A, Shahbazian, Mona D, Lee, Brendan
Published in American journal of medical genetics (15.08.2002)
Published in American journal of medical genetics (15.08.2002)
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Journal Article
Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human gamma and member of globin genes
Gumucio, D L, Heilstedt-Williamson, H, Gray, T A, Tarle, SA, Shelton, DA, Tagle, DA, Slightom, J L, Goodman, M, Collins, F S
Published in Molecular and cellular biology (01.01.1992)
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Published in Molecular and cellular biology (01.01.1992)
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