Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Mark S. Bateman"'
Autor:
John C K Barber, Sarah Bowell, David M. Hunt, Morag N. Collinson, Mark S. Bateman, Amanda L. Collins, David J. Bunyan, Beth Kirk, Louisa M. Russell, Mira Kharbanda, Emma-Jane Taylor
Publikováno v:
Cytogenetic and Genome Research. 160:185-192
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 daughter with the same directly transmitted 12.3-Mb interstitial deletion of 11q21q22.3 (GRCh37
Autor:
Sarah L. Wynn, Jacqueline N. Gauthier, Nancy Kramer, Mervyn Humphreys, Mark S. Bateman, Michael Marble, Barbro Stadheim, Joanne Massiah, Tabib Dabir, Tyler Reimschisel, Jill A. Rosenfeld, Taosheng Huang, John C. K. Barber, Claire L. S. Turner, John M. Graham, Sarah J. Beal, Emma-Jane Taylor, Athar M. Qureshi, Morag N. Collinson, Katherine Lachlan
Publikováno v:
American Journal of Medical Genetics Part A. 167:2052-2064
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 32 genes of which five are currently candidates for the phenotypic features. Here we descr
Autor:
Sara Ellingwood, Wendy E. Smith, John C K Barber, Arayamparambil C. Anilkumar, Yara Kharbutli, Viv K. Maloney, Keith Eddleman, Michael Marble, Allen N. Lamb, John A. Crolla, Regina Zambrano, Mark S. Bateman, Samantha Baker, Valerie Banks, Nicola Foulds, N. Simon Thomas, Jill A. Rosenfeld, Lakshmi Mehta, Sophie R. Laird
Publikováno v:
American Journal of Medical Genetics Part A. 161:487-500
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 family members. Here, we describe another prenatal and five postnatal patients with de novo
Autor:
John C K Barber, Rosilene Rosa Rodrigues, Viv K. Maloney, M. do C. Rodrigues, F. Taborda, Mark S. Bateman
Publikováno v:
Cytogenetic and Genome Research. 141:64-69
Microscopically visible copy number variations within the proximal short arm heterochromatin and proximal long arm of chromosome 9 have been described as euchromatic variants (EVs) and are derived from extensive segmental duplications (SDs) that map
Autor:
Karl Mehnert, Thomas Liehr, John C K Barber, Beverley Bewes, Victoria Hall, Helen E. White, Nicki Foulds, Shuwen Huang, Viv K. Maloney, Marianne Volleth, Mark S. Bateman, Angharad M. Roberts, Angela F. Brady
Publikováno v:
European Journal of Human Genetics. 21:182-189
Chromosome 16 contains multiple copy number variations (CNVs) that predispose to genomic disorders. Here, we differentiate pathogenic duplications of 16p11.2–p12.2 from microscopically similar euchromatic variants of 16p11.2. Patient 1 was a girl o
Publikováno v:
American Journal of Medical Genetics Part A. 155:2807-2815
The central portion of the short arm of chromosome 5 is unusual in that large, cytogenetically visible interstitial deletions segregate in families with and without phenotypic consequences. Here we present a family in which a transmitted interstitial
Autor:
Sarju G. Mehta, Kristin M. Abbott, Simon Zwolinski, Lionel Willatt, Leeanne Sparnon, Ingrid Simonic, Elizabeth Selkirk, Mark S. Bateman, John C. K. Barber, Clare Bedwell
Publikováno v:
American Journal of Medical Genetics Part A. :1764-1769
Cytogenetically visible imbalances without phenotypic effect are still rare despite the extent of large-scale copy number variation in the normal population revealed by array CGH. Here we report on a phenotypically normal 30-year-old female with a de
Autor:
John C K Barber, Charlotte Brasch-Andersen, Mark S. Bateman, U D Heinl, Shuwen Huang, Viv K. Maloney, Christina Fagerberg, Jesper Graakjaer
Publikováno v:
Barber, J C K, Brasch-Andersen, C, Maloney, V K, Huang, S, Bateman, M S, Graakjaer, J, Heinl, U D & Fagerberg, C 2012, ' A Novel Pseudo-Dicentric Variant of 16p11.2-q11.2 Contains Euchromatin from 16p11.2-p11.1 and Resembles Pathogenic Duplications of Proximal 16q ', Cytogenetic and Genome Research, vol. 139, no. 1, pp. 59-64 . https://doi.org/10.1159/000342542
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 retardation, microcephaly, and dysmorphic features. Dual color bacterial artificial chromoso