Search Results - "Goldsmith, Juliet E"

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT by Cai, Guiqing, Edelmann, Lisa, Goldsmith, Juliet E, Cohen, Ninette, Nakamine, Alisa, Reichert, Jennifer G, Hoffman, Ellen J, Zurawiecki, Danielle M, Silverman, Jeremy M, Hollander, Eric, Soorya, Latha, Anagnostou, Evdokia, Betancur, Catalina, Buxbaum, Joseph D

“…It has previously been shown that specific microdeletions and microduplications, many of which also associated with cognitive impairment (CI), can present with…”
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Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly by Buxbaum, Joseph D., Cai, Guiqing, Chaste, Pauline, Nygren, Gudrun, Goldsmith, Juliet, Reichert, Jennifer, Anckarsäter, Henrik, Rastam, Maria, Smith, Christopher J., Silverman, Jeremy M., Hollander, Eric, Leboyer, Marion, Gillberg, Christopher, Verloes, Alain, Betancur, Catalina

“…Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, Proteus…”
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Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly by Buxbaum, Joseph D, Cai, Guiqing, Nygren, Gudrun, Chaste, Pauline, Delorme, Richard, Goldsmith, Juliet, Råstam, Maria, Silverman, Jeremy M, Hollander, Eric, Gillberg, Christopher, Leboyer, Marion, Betancur, Catalina

“…Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by…”
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