نتائج البحث - "Barber, John C. K."

1

Dissertation/ Thesis

An investigation of euchromatic cytogenetic imbalances without phenotypic effect

المؤلفون: Barber, John C. K.

مصطلحات موضوعية: 572.8, Chromosomal, Neonatal diabetes

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.341623

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2

Academic Journal

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

المؤلفون: Barber, John C K, Sharp, Andrew J, Hollox, Edward J, Tyson, Christine

المصدر: European Journal of Human Genetics ; volume 25, issue 1, page 8-9 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2016.104
http://www.nature.com/articles/ejhg2016104.pdf
http://www.nature.com/articles/ejhg2016104

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3

Academic Journal

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

المؤلفون: 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

المصدر: European Journal of Human Genetics ; volume 21, issue 2, page 182-189 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2012.144
http://www.nature.com/articles/ejhg2012144.pdf
http://www.nature.com/articles/ejhg2012144

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4

Academic Journal

Definsins and the dynamic genome: what we can learn from structural variation at human chromosome ban 8p23.1

المؤلفون: Hollox, Edward J., Barber, John C. K., Brookes, Anthony J., Armour, John A .L.

Relation: Genome Research, 2008, 18 (11), pp. 1686-1697.; http://genome.cshlp.org/content/18/11/1686; http://hdl.handle.net/2381/4161

الاتاحة: http://genome.cshlp.org/content/18/11/1686
http://hdl.handle.net/2381/4161
https://doi.org/10.1101/gr.080945.108

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5

Academic Journal

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

المؤلفون: Glancy, Mary, Barnicoat, Angela, Vijeratnam, Rajan, de Souza, Sharon, Gilmore, Joanne, Huang, Shuwen, Maloney, Viv K, Thomas, N Simon, Bunyan, David J, Jackson, Ann, Barber, John C K

المصدر: European Journal of Human Genetics ; volume 17, issue 1, page 37-43 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2008.133
http://www.nature.com/articles/ejhg2008133.pdf
http://www.nature.com/articles/ejhg2008133

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6

Academic Journal

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

المؤلفون: Barber, John C K, Maloney, Viv K, Bewes, Beverley, Wakeling, Emma

المصدر: European Journal of Human Genetics ; volume 14, issue 6, page 739-743 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/sj.ejhg.5201605
http://www.nature.com/articles/5201605.pdf
http://www.nature.com/articles/5201605

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7

Academic Journal

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

المؤلفون: Willatt, Lionel R, Barber, John C K, Clarkson, Amanda, Simonic, Ingrid, Raymond, F Lucy, Docherty, Zoe, Ogilvie, Caroline Mackie

المصدر: European Journal of Human Genetics ; volume 15, issue 1, page 45-52 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/sj.ejhg.5201720
http://www.nature.com/articles/5201720.pdf
http://www.nature.com/articles/5201720

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8

Academic Journal

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

المؤلفون: Barber, John C K, Maloney, Viv, Hollox, Edward J, Stuke-Sontheimer, Annegret, du Bois, Gabi, Daumiller, Eva, Klein-Vogler, Ute, Dufke, Andreas, Armour, John A L, Liehr, Thomas

المصدر: European Journal of Human Genetics ; volume 13, issue 10, page 1131-1136 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/sj.ejhg.5201475
http://www.nature.com/articles/5201475.pdf
http://www.nature.com/articles/5201475

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9

Academic Journal

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

المؤلفون: Barber, John C K, Thomas, N Simon, Collinson, Morag N, Dennis, Nick R, Liehr, Thomas, Weise, Anja, Belitz, Britta, Pfeiffer, Lutz, Kirchhoff, Maria, Krag-Olsen, Bente, Lundsteen, Claes

المصدر: European Journal of Human Genetics ; volume 13, issue 3, page 283-291 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/sj.ejhg.5201267
http://www.nature.com/articles/5201267.pdf
http://www.nature.com/articles/5201267

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10

Academic Journal

Catalogue of Unbalanced Chromosome Aberrations in Man: 2nd edition. Albert Schinzel. (Pp 966; SFr 397.) Berlin: Walter de Gruyter, 2001. ISBN 3-11-011607-3.

المؤلفون: Barber, John C K

مصطلحات موضوعية: Book reviews

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/39/5/375; http://dx.doi.org/10.1136/jmg.39.5.375

الاتاحة: http://jmg.bmj.com/cgi/content/short/39/5/375
https://doi.org/10.1136/jmg.39.5.375

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11

Academic Journal

A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities

المؤلفون: SUMPTION, NATALIA D, BARBER, JOHN C K

مصطلحات موضوعية: Letters to the editor

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/38/2/125; http://dx.doi.org/10.1136/jmg.38.2.125

الاتاحة: http://jmg.bmj.com/cgi/content/short/38/2/125
https://doi.org/10.1136/jmg.38.2.125

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12

Academic Journal

Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (~5.4 Mb) interval on chromosome 6q

المؤلفون: Gardner, Rebecca J, Mungall, Andrew J, Dunham, Ian, Barber, John C K, Shield, Julian P H, Temple, I Karen, Robinson, David O

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/36/3/192; http://dx.doi.org/10.1136/jmg.36.3.192

الاتاحة: http://jmg.bmj.com/cgi/content/short/36/3/192
https://doi.org/10.1136/jmg.36.3.192

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13

Academic Journal

Further Evidence for an Imprinted Gene for Neonatal Diabetes Localised to Chromosome 6q22-q23

المؤلفون: Temple, I. Karen, Gardner, Rebecca J., Robinson, David O., Kibirige, Mohammed S., Ferguson, Arthur W., Baum, J. David, Barber, John C. K., James, Rowena S., Shield, Julian P. H.

مصطلحات موضوعية: Articles

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/5/8/1117; http://dx.doi.org/10.1093/hmg/5.8.1117

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/5/8/1117
https://doi.org/10.1093/hmg/5.8.1117

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14

Academic Journal

Medical genetics: advances in brief: Human homolog of patched, a candidate gene for the basal cell nevus syndrome

المؤلفون: Barber, John C K

مصطلحات موضوعية: Abstracts

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/33/11/975-a; http://dx.doi.org/10.1136/jmg.33.11.975-a

الاتاحة: http://jmg.bmj.com/cgi/content/short/33/11/975-a
https://doi.org/10.1136/jmg.33.11.975-a

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15

Academic Journal

Medical genetics: advances in brief: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

المؤلفون: Barber, John C K

مصطلحات موضوعية: Abstracts

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/33/7/628-c; http://dx.doi.org/10.1136/jmg.33.7.628-c

الاتاحة: http://jmg.bmj.com/cgi/content/short/33/7/628-c
https://doi.org/10.1136/jmg.33.7.628-c

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16

Academic Journal

Medical genetics: advances in brief: Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

المؤلفون: Barber, John C K

مصطلحات موضوعية: Abstracts

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/33/8/718-a; http://dx.doi.org/10.1136/jmg.33.8.718-a

الاتاحة: http://jmg.bmj.com/cgi/content/short/33/8/718-a
https://doi.org/10.1136/jmg.33.8.718-a

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17

Academic Journal

Medical genetics: advances in brief: Mutations in the dystrophin-associated protein {gamma}-sarcoglycan in chromosome 13 muscular dystrophy

المؤلفون: Barber, John C K

مصطلحات موضوعية: Abstracts

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/33/3/260-a; http://dx.doi.org/10.1136/jmg.33.3.260-a

الاتاحة: http://jmg.bmj.com/cgi/content/short/33/3/260-a
https://doi.org/10.1136/jmg.33.3.260-a

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18

Academic Journal

Medical genetics: advances in brief: Inactivation of the type II TGF-{beta} receptor in colon cancer cells with microsatellite instability

المؤلفون: Barber, John C K

مصطلحات موضوعية: Abstracts

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/32/10/835-c; http://dx.doi.org/10.1136/jmg.32.10.835-c

الاتاحة: http://jmg.bmj.com/cgi/content/short/32/10/835-c
https://doi.org/10.1136/jmg.32.10.835-c

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19

Academic Journal

Medical genetics: advances in brief

المؤلفون: Barber, John C K

مصطلحات موضوعية: Abstracts

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/32/12/996-a; http://dx.doi.org/10.1136/jmg.32.12.996-a

الاتاحة: http://jmg.bmj.com/cgi/content/short/32/12/996-a
https://doi.org/10.1136/jmg.32.12.996-a

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20

Academic Journal

Medical genetics: advances in brief: A single ataxia telangiectasia gene with a product similar to P1-3 kinase

المؤلفون: Barber, John C K

مصطلحات موضوعية: Abstracts

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/32/11/917-c; http://dx.doi.org/10.1136/jmg.32.11.917-c

الاتاحة: http://jmg.bmj.com/cgi/content/short/32/11/917-c
https://doi.org/10.1136/jmg.32.11.917-c

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