Search Results - "Emanuel, B S"

A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium by Gur, R E, Bassett, A S, McDonald-McGinn, D M, Bearden, C E, Chow, E, Emanuel, B S, Owen, M, Swillen, A, Van den Bree, M, Vermeesch, J, Vorstman, J A S, Warren, S, Lehner, T, Morrow, B

“…Rare copy number variants contribute significantly to the risk for schizophrenia, with the 22q11.2 locus consistently implicated. Individuals with the 22q11.2…”
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Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated by Tang, S X, Yi, J J, Calkins, M E, Whinna, D A, Kohler, C G, Souders, M C, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Gur, R C, Gur, R E

“…Chromosome 22q11.2 deletion syndrome (22q11DS) is a common genetic disorder with high rates of psychosis and other psychopathologies, but few studies discuss…”
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The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements by Kurahashi, H, Inagaki, H, Ohye, T, Kogo, H, Tsutsumi, M, Kato, T, Tong, M, Emanuel, BS

“…Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS. The constitutional t(11;22): implications for a novel mechanism responsible for…”
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A double hit implicates DIAPH3 as an autism risk gene by Vorstman, J A S, van Daalen, E, Jalali, G R, Schmidt, E R E, Pasterkamp, R J, de Jonge, M, Hennekam, E A M, Janson, E, Staal, W G, van der Zwaag, B, Burbach, J P H, Kahn, R S, Emanuel, B S, van Engeland, H, Ophoff, R A

“…Recent studies have shown that more than 10% of autism cases are caused by de novo structural genomic rearrangements. Given that some heritable copy number…”
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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome : genomic organization and deletion endpoint analysis by SHAIKH, T. H, KURAHASHI, H, EMANUEL, B. S, SAITTA, S. C, O'HARE, A. M, PING HU, ROE, B. A, DRISCOLL, D. A, MCDONALD-MCGINN, D. M, ZACKAI, E. H, BUDARF, M. L

“…The 22q11.2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes (DGS/VCFS), is the most common microdeletion syndrome. The majority of…”
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Frequency of 22q11 deletions in patients with conotruncal defects by Goldmuntz, Elizabeth, Clark, Bernard J, Mitchell, Laura E, Jawad, Abbas F, Cuneo, Bettina F, Reed, Lori, McDonald-McGinn, Donna, Chien, Peggy, Feuer, Jennifer, Zackai, Elaine H, Emanuel, Beverly S, Driscoll, Deborah A

“…Objectives. This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal…”
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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis by Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S

“…Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). In the present study, we…”
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The Philadelphia story: the 22q11.2 deletion: report on 250 patients by McDonald-McGinn, D M, Kirschner, R, Goldmuntz, E, Sullivan, K, Eicher, P, Gerdes, M, Moss, E, Solot, C, Wang, P, Jacobs, I, Handler, S, Knightly, C, Heher, K, Wilson, M, Ming, J E, Grace, K, Driscoll, D, Pasquariello, P, Randall, P, Larossa, D, Emanuel, B S, Zackai, E H

“…A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly…”
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Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern by Moss, Edward M., Batshaw, Mark L., Solot, Cynthia B., Gerdes, Marsha, McDonald-McGinn, Donna M., Driscoll, Deborah A., Emanuel, Beverly S., Zackai, Elaine H., Wang, Paul P.

“…Objectives: To examine the psychoeducational profile associated with the chromosome 22q11.2 microdeletion (DiGeorge/velocardiofacial syndrome). Study design:…”
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Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities by Gur, R E, Yi, J J, McDonald-McGinn, D M, Tang, S X, Calkins, M E, Whinna, D, Souders, M C, Savitt, A, Zackai, E H, Moberg, P J, Emanuel, B S, Gur, R C

“…The 22q11.2 deletion syndrome (22q11DS) presents with medical and neuropsychiatric manifestations including neurocognitive deficits. Quantitative…”
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Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome by White, L K, Hillman, N, Ruparel, K, Moore, T M, Gallagher, R S, McClellan, E J, Roalf, D R, Scott, J C, Calkins, M E, McGinn, D E, Giunta, V, Tran, O, Crowley, T B, Zackai, E H, Emanuel, B S, McDonald-McGinn, D M, Gur, R E, Gur, R C

“…Neurocognitive functioning is an integral phenotype of 22q11.2 deletion syndrome relating to severity of psychopathology and outcomes. A neurocognitive battery…”
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Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22) by KURAHASHI, H, SHAIKH, T. H, PING HU, ROE, B. A, EMANUEL, B. S, BUDARF, M. L

“…The constitutional t(11;22)(q23;q11) is the only known recurrent, non-Robertsonian translocation. To analyze the genomic structure of the breakpoint, we have…”
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Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome by Hoffman, J D, Zhang, Y, Greshock, J, Ciprero, K L, Emanuel, B S, Zackai, E H, Weber, B L, Ming, J E

“…Background: Kabuki (Niikawa–Kuroki) syndrome comprises a characteristic facial appearance, cleft palate, congenital heart disease, and developmental delay…”
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Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2 by Grossman, M H, Emanuel, B S, Budarf, M L

“…Catechol-O-methyltransferase (COMT; EC 2.1.1.6) is a physiologically important enzyme in the metabolism of catecholamine neurotransmitters and catechol drugs…”
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Chromosome 22q11 deletion in patients with truncus arteriosus by McElhinney, D B, Driscoll, D A, Emanuel, B S, Goldmuntz, E

“…The association between truncus arteriosus and chromosome 22q11 deletion is well recognized, but the frequency of a chromosome 22q11 deletion has not been…”
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Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow by Eicher, Peggy S., McDonald-McGinn, Donna M., Fox, Catherine A., Driscoll, Deborah A., Emanuel, Beverly S., Zackai, Elaine H.

“…Objectives: To delineate feeding dysfunction in a population of children with a 22q11.2 deletion and report the associated findings noted during the modified…”
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Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene by CHIEFFO, C, GARVEY, N, GONG, W, ROE, B, ZHANG, G, SILVER, L, EMANUEL, B. S, BUDARF, M. L

“…DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and isolated and familial forms of conotruncal cardiac defects have been…”
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Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome by Tang, S X, Moore, T M, Calkins, M E, Yi, J J, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Gur, R C, Gur, R E

“…Individuals with 22q11.2 deletion syndrome (22q11DS) are at markedly elevated risk for schizophrenia-related disorders. Stability, emergence, remission and…”
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Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22) by Kurahashi, Hiroki, Shaikh, Tamim H., Zackai, Elaine H., Celle, Livija, Driscoll, Deborah A., Budarf, Marcia L., Emanuel, Beverly S.

“…Palindromic AT-rich repeats (PATRRs) on chromosomes 11q23 and 22q11 at the constitutional t(11;22) breakpoint are predicted to induce genomic instability,…”
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Localization of gene for human p53 tumour antigen to band 17p13 by Isobe, M, Emanuel, B. S, Givol, D, Oren, M, Croce, C. M

“…Recently the gene for the cellular tumour antigen p53, a phosphoprotein found in increased concentration in a variety of human cells, had been mapped to region…”
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