De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance

Por Sibbons, Charlene, Morris, Joan K, Crolla, John A, Jacobs, Patricia A, Thomas, N Simon
Publicado em 2012

DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation

Por Bala Tannan, Neeta, Brahmachary, Manisha, Garg, Paras, Borel, Christelle, Alnefaie, Randah, Watson, Corey T., Thomas, N. Simon, Sharp, Andrew J.
Publicado em 2014

Maternal Folate Polymorphisms and the Etiology of Human Nondisjunction

Por Hassold, Terry J., Burrage, Lindsay C., Chan, Ernest R., Judis, LuAnn M., Schwartz, Stuart, James, S. Jill, Jacobs, Patricia A., Thomas, N. Simon
Publicado em 2001

Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

Por Baptista, Julia, Mercer, Catherine, Prigmore, Elena, Gribble, Susan M., Carter, Nigel P., Maloney, Viv, Thomas, N. Simon, Jacobs, Patricia A., Crolla, John A.
Publicado em 2008

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

Por 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
Publicado em 2009

Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans

Por Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, Brondum-Nielsen, Karen, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M., Thomas, N. Simon
Publicado em 2006

Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots

Por Benito-Sanz, Sara, Gorbenko del Blanco, Darya, Huber, Céline, Thomas, N. Simon, Aza-Carmona, Miriam, Bunyan, David, Maloney, Vivienne, Argente, Jesús, Cormier-Daire, Valérie, Campos-Barros, Ángel, Heath, Karen E.
Publicado em 2006

A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis

Por Benito-Sanz, Sara, Thomas, N. Simon, Huber, Céline, del Blanco, Darya Gorbenko, Aza-Carmona, Miriam, Crolla, John A., Maloney, Vivienne, Argente, Jesús, Campos-Barros, Ángel, Cormier-Daire, Valérie, Heath, Karen E.
Publicado em 2005

Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy

Por Kantarci, Sibel, Ragge, Nicola K., Thomas, N. Simon, Robinson, David O., Noonan, Kristin M., Russell, Meaghan K., Donnai, Dian, Raymond, F. Lucy, Walsh, Christopher A., Donahoe, Patricia K., Pober, Barbara R.
Publicado em 2008

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

Por Bunyan, D J, Eccles, D M, Sillibourne, J, Wilkins, E, Thomas, N Simon, Shea-Simonds, J, Duncan, P J, Curtis, C E, Robinson, D O, Harvey, J F, Cross, N C P
Publicado em 2004