Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases
Edelman, EA, Girirajan, S, Finucane, B, Patel, PI, Lupski, JR, Smith, ACM, Elsea, SH
Published in Clinical genetics (01.06.2007)
Published in Clinical genetics (01.06.2007)
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Discriminating Power of Localized Three-Dimensional Facial Morphology
Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Buxton, Bernard, Campbell, Linda E., Clayton-Smith, Jill, Donnai, Dian, Karmiloff-Smith, Annette, Metcalfe, Kay, Murphy, Kieran C., Patton, Michael, Pober, Barbara, Prescott, Katrina, Scambler, Pete, Shaw, Adam, Smith, Ann C.M., Stevens, Angela F., Temple, I. Karen, Hennekam, Raoul, Tassabehji, May
Published in American journal of human genetics (01.12.2005)
Published in American journal of human genetics (01.12.2005)
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Journal Article
Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome
Lo Nigro, Cristiana, Chong, Samuel S., Smith, Ann C. M., Dobyns, William B., Carrozzo, Romeo, Ledbetter, David H.
Published in Human molecular genetics (01.02.1997)
Published in Human molecular genetics (01.02.1997)
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Journal Article
A complete set of human telomeric probes and their clinical application
Ning, Yi, Roschke, Anna, Smith, Ann C.M, Macha, Michelle, Precht, Kathrin, Riethman, Harold, Ledbetter, David H, Flint, Jonathan, Horsley, Sharon, Regan, Regina, Kearney, Lyndal, Knight, Samantha, Kvaloy, Kirsti, Brown, William R.A
Published in Nature genetics (01.09.1996)
Published in Nature genetics (01.09.1996)
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Journal Article
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
LIBURD, Nikki, GHOSH, Manju, SMITH, Ann C. M, CHEN, Ken-Shiung, LUPSKI, James R, WILCOX, Edward R, POTOCKI, Lorraine, FRIEDMAN, Thomas B, RIAZUDDIN, Saima, NAZ, Sadaf, KHAN, Shaheen, AHMED, Zubair, RIAZUDDIN, Sheikh, YONG LIANG, MENON, Puthezhath S. N, SMITH, Tenesha
Published in Human genetics (01.11.2001)
Published in Human genetics (01.11.2001)
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Journal Article
Original Article: Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases
Edelman, E A, Girirajan, S, Finucane, B, Patel, P I, Lupski, J R, Smith, ACM, Elsea, SH
Published in Clinical genetics (01.06.2007)
Published in Clinical genetics (01.06.2007)
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Journal Article
A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3
Chong, Samuel S., Pack, Svetlana D., Roschke, Anna V., Tanigami, Akira, Carrozzo, Romeo, Smith, Ann C. M., Dobyns, William B., Ledbetter, David H.
Published in Human molecular genetics (01.02.1997)
Published in Human molecular genetics (01.02.1997)
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Journal Article
The face of Smith-Magenis syndrome: a subjective and objective study
Allanson, Judith E, Greenberg, Frank, Smith, Ann C M
Published in Journal of medical genetics (01.05.1999)
Published in Journal of medical genetics (01.05.1999)
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Journal Article
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene
Vlangos, Christopher N., Wilson, Meredith, Blancato, Jan, Smith, Ann C.M., Elsea, Sarah H.
Published in American journal of medical genetics. Part A (30.01.2005)
Published in American journal of medical genetics. Part A (30.01.2005)
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Journal Article
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)
Smith, Ann C.M., Gropman, Andrea L., Bailey-Wilson, Joan E., Goker-Alpan, Ozlem, Elsea, Sarah H., Blancato, Jan, Lupski, James R., Potocki, Lorraine
Published in Genetics in medicine (01.05.2002)
Published in Genetics in medicine (01.05.2002)
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Journal Article
Stress and coping in families of children with Smith-Magenis syndrome
Hodapp, R. M., Fidler, D. J., Smith, A. C. M.
Published in Journal of intellectual disability research (01.10.1998)
Published in Journal of intellectual disability research (01.10.1998)
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Journal Article
Molecular analysis of the Smith-Magenis syndrome : a possible contiguous-gene syndrome associated with del(17)(p11.2)
GREENBERG, F, GUZZETTA, V, MONTES DE OTA-LUNA, R, MAGENIS, R. E, SMITH, A. C. M, RICHTER, S. F, KONDO, I, DOBYNS, W. B, PATEL, P. I, LUPSKI, J. R
Published in American journal of human genetics (01.12.1991)
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Published in American journal of human genetics (01.12.1991)
Journal Article
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR
Truong, Hoa T, Solaymani-Kohal, Sara, Baker, Kevin R, Girirajan, Santhosh, Williams, Stephen R, Vlangos, Christopher N, Smith, Ann C M, Bunyan, David J, Roffey, Paul E, Blanchard, Christopher L, Elsea, Sarah H
Published in Genetic testing (01.03.2008)
Published in Genetic testing (01.03.2008)
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Journal Article
Brief report: association of sex chromosome anomalies with childhood-onset psychotic disorders
Kumra, S, Wiggs, E, Krasnewich, D, Meck, J, Smith, A C, Bedwell, J, Fernandez, T, Jacobsen, L K, Lenane, M, Rapoport, J L
Published in Journal of the American Academy of Child and Adolescent Psychiatry (01.03.1998)
Published in Journal of the American Academy of Child and Adolescent Psychiatry (01.03.1998)
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Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis
Kubota, T, Aradhya, S, Macha, M, Smith, A C, Surh, L C, Satish, J, Verp, M S, Nee, H L, Johnson, A, Christan, S L, Ledbetter, D H
Published in Journal of medical genetics (01.12.1996)
Published in Journal of medical genetics (01.12.1996)
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