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

Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes by Barber, John C.K.

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Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted? by Barber, John C.K., Huang, Shuwen, Bateman, Mark S., Collins, Amanda L.

“…The central portion of the short arm of chromosome 5 is unusual in that large, cytogenetically visible interstitial deletions segregate in families with and…”
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The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity by Fickelscher, Ina, Liehr, Thomas, Watts, Kathryn, Bryant, Victoria, Barber, John C.K., Heidemann, Simone, Siebert, Reiner, Hertz, Jens Michael, Tümer, Zeynep, Simon Thomas, N.

“…Human chromosome 2 contains large blocks of segmental duplications (SDs), both within and between proximal 2p and proximal 2q, and these may contribute to the…”
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Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties by GLANCY, Mary, BARNICOAT, Angela, BARBER, John C. K, VIJERATNAM, Rajan, DE SOUZA, Sharon, GILMORE, Joanne, HUANG, Shuwen, MALONEY, Viv K, THOMAS, N. Simon, BUNYAN, David J, JACKSON, Ann

“…Duplications of distal 8p with and without significant clinical phenotypes have been reported and are often associated with an unusual degree of structural…”
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Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1 by Hollox, Edward J, Barber, John C K, Brookes, Anthony J, Armour, John A L

“…Over the past four years, genome-wide studies have uncovered numerous examples of structural variation in the human genome. This includes structural variation…”
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8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH by BARBER, John C. K, MALONEY, Viv K, ZWOLINSKI, Simon, PRESCOTT, Laura, CROW, Yanick, MORGAN, Rob, HOBSON, Emma, SHUWEN HUANG, BUNYAN, David J, CRESSWELL, Lara, KINNING, Esther, BENSON, Anna, CHEETHAM, Tim, WYLLIE, Jonathan, LYNCH, Sally Ann

“…The 8p23.1 deletion syndrome is established but not an equivalent duplication syndrome. Here, we report five patients; a de novo prenatal case and two families…”
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15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q by Tatton-Brown, Katrina, Pilz, Daniela T., Örstavik, Karen Helene, Patton, Michael, Barber, John C.K., Collinson, Morag N., Maloney, Vivienne K., Huang, Shuwen, Crolla, John A., Marks, Karen, Ormerod, Eli, Thompson, Peter, Nawaz, Zafar, Lese-Martin, Christa, Tomkins, Susan, Waits, Paula, Rahman, Nazneen, McEntagart, Meriel

“…Trisomy and tetrasomy of distal chromosome 15q have rarely been reported. Although most of the described patients have some learning difficulties and are…”
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8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients by Barber, John C.K., Rosenfeld, Jill A., Foulds, Nicola, Laird, Sophie, Bateman, Mark S., Thomas, N. Simon, Baker, Samantha, Maloney, Viv K., Anilkumar, Arayamparambil, Smith, Wendy E., Banks, Valerie, Ellingwood, Sara, Kharbutli, Yara, Mehta, Lakshmi, Eddleman, Keith A., Marble, Michael, Zambrano, Regina, Crolla, John A., Lamb, Allen N.

“…The 8p23.1 duplication syndrome is a relatively rare genomic condition that has been confirmed with molecular cytogenetic methods in only 11 probands and five…”
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Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype by BARBER, John C. K, MALONEY, Viv K, BEWES, Beverley, WAKELING, Emma

“…A novel transmitted 2-3 Mb deletion of 2q14.1-q14.2 was found in an affected boy from a consanguineous family with a possible diagnosis of PEHO syndrome (OMIM…”
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Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12 qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin by WILLATT, Lionel R, BARBER, John C. K, CLARKSON, Amanda, SIMONIC, Ingrid, RAYMOND, F. Lucy, DOCHERTY, Zoe, MACKIE OGILVIE, Caroline

“…Large-scale copy number variation that is cytogenetically visible in normal individuals has been described as euchromatic variation but needs to be…”
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A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect by Bateman, Mark S., Mehta, Sarju G., Willatt, Lionel, Selkirk, Elizabeth, Bedwell, Clare, Zwolinski, Simon, Sparnon, Leeanne, Simonic, Ingrid, Abbott, Kristin, Barber, John CK

“…Cytogenetically visible imbalances without phenotypic effect are still rare despite the extent of large‐scale copy number variation in the normal population…”
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Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region by Kirk, Beth, Kharbanda, Mira, Bateman, Mark S, Hunt, David, Taylor, Emma-Jane, Collins, Amanda L, Bunyan, David J, Collinson, Morag N, Russell, Louisa M, Bowell, Sarah, Barber, John C K

“…A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and…”
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Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy by Street, Melissa L., Barber, John C. K., Boyle, Tracy A., Ellis, Katrina H., Bullman, Hilary, Homfray, Tessa

“…We report a case of maternal mosaic trisomy 21 ascertained at prenatal diagnosis as a result of maternal cell contamination of an amniotic fluid sample. A 34…”
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Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences by Barber, John C.K., Maloney, Viv K., Kirchhoff, Maria, Thomas, N. Simon, Boyle, Tracy A., Castle, Bruce

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Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities by Bateman, Mark S., Collinson, Morag N., Bunyan, David J., Collins, Amanda L., Duncan, Philippa, Firth, Rachel, Harrison, Victoria, Homfray, Tessa, Huang, Shuwen, Kirk, Beth, Lachlan, Katherine L., Maloney, Viv K., Barber, John C. K.

“…The direct transmission of microscopically visible unbalanced chromosome abnormalities (UBCAs) is rare and usually has phenotypic consequences. Here we report…”
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Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor? by Barber, John C K, Sharp, Andrew J, Hollox, Edward J, Tyson, Christine

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16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2 by Barber, John C K, Hall, Victoria, Maloney, Viv K, Huang, Shuwen, Roberts, Angharad M, Brady, Angela F, Foulds, Nicki, Bewes, Beverley, Volleth, Marianne, Liehr, Thomas, Mehnert, Karl, Bateman, Mark, White, Helen

“…Chromosome 16 contains multiple copy number variations (CNVs) that predispose to genomic disorders. Here, we differentiate pathogenic duplications of…”
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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance by Barber, John C. K., Rosenfeld, Jill A., Graham, John M., Kramer, Nancy, Lachlan, Katherine L., Bateman, Mark S., Collinson, Morag N., Stadheim, Barbro Fossøy, Turner, Claire L. S., Gauthier, Jacqueline N., Reimschisel, Tyler E., Qureshi, Athar M., Dabir, Tabib A., Humphreys, Mervyn W., Marble, Michael, Huang, Taosheng, Beal, Sarah J., Massiah, Joanne, Taylor, Emma-Jane, Wynn, Sarah L.

“…The 8p23.1 duplication syndrome (8p23.1 DS) is a recurrent genomic condition with an estimated prevalence of 1 in 58,000. The core 3.68 Mb duplication contains…”
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Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences by BARBER, John C. K, THOMAS, N. Simon, LUNDSTEEN, Claes, COLLINSON, Morag N, DENNIS, Nick R, LIEHR, Thomas, WEISE, Anja, BELITZ, Britta, PFEIFFER, Lutz, KIRCHHOFF, Maria, KRAG-OLSEN, Bente

“…Segmental aneuploidy usually has phenotypic consequences but unbalanced rearrangements without phenotypic consequences have also been reported. In particular,…”
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Terminal 3p deletions: Phenotypic variability, chromosomal non-penetrance, or gene modification? by Barber, John C.K.

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