Search Results - "Barber, J.C.K."

Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations by Browne, C.E., Dennis, N.R., Maher, E., Long, F.L., Nicholson, J.C., Sillibourne, J., Barber, J.C.K.

“…We present the cytogenetic, molecular cytogenetic, and molecular genetic results on 20 unrelated patients with an interstitial duplication of the proximal long…”
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Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect by Barber, J C K, Zhang, S, Friend, N, Collins, A L, Maloney, V K, Hastings, R, Farren, B, Barnicoat, A, Polityko, A D, Rumyantseva, N V, Starke, H, Ye, S

“…Extra euchromatic material was found within the major heterochromatic block of chromosome 16 (16qh) in one de novo case and seven members of two families. In…”
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Extensive Normal Copy Number Variation of a β-Defensin Antimicrobial-Gene Cluster by Hollox, E.J., Armour, J.A.L., Barber, J.C.K.

“…Using a combination of multiplex amplifiable probe hybridization and semiquantitative fluorescence in situ hybridization (SQ-FISH), we analyzed DNA copy number…”
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A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q by Barber, J C K, Brasch-Andersen, C, Maloney, V K, Huang, S, Bateman, M S, Graakjaer, J, Heinl, U D, Fagerberg, C

“…An unusually large G-light band between 2 G-dark bands in the proximal long arm of chromosome 16 was found in a boy of 5 years of age ascertained with growth…”
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Another family with a euchromatic duplication variant of 9q13-q21.1 derived from segmentally duplicated pericentromeric euchromatin by Barber, J C K, Rodrigues, R, Maloney, V K, Taborda, F, do C Rodrigues, M, Bateman, M S

“…Microscopically visible copy number variations within the proximal short arm heterochromatin and proximal long arm of chromosome 9 have been described as…”
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A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH by Mercer, C L, Browne, C E, Barber, J C K, Maloney, V K, Huang, S, Thomas, N S, Foulds, N, MacLachlan, N

“…We report an adult female with a left polycystic kidney, patent ductus arteriosus, left streak ovary, bicornuate uterus and deafness who presented with…”
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New case of "Apple-Peel" intestinal atresia and ocular anomalies with mosaic variegated aneuploidy by Bower, K.L., Dennis, N.R., Wellesley, D., Williams, C.P.R., Hodgkins, P., Tyreman, C., Browne, C.E., Barber, J.C.K.

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Small terminal deletions of the long arm of chromosome 2: two new cases by Fisher, A M, Ellis, K H, Browne, C E, Barber, J C, Barker, M, Kennedy, C R, Foley, H, Patton, M A

“…We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more…”
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