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Simon Thomas

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Catherine L Mercer; Nabeel Affara; Shuwen Huang; Patricia A Jacobs; Alexandra Karcanias; Katherine Lachlan; N Simon Thomas
Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.
N Simon Thomas; Joan K Morris; Julia Baptista; Bee Ling Ng; John A Crolla; Patricia A Jacobs
De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.
N Simon Thomas; John F Harvey; David J Bunyan; Julia Rankin; Giedre Grigelioniene; Damien L Bruno; Tiong Y Tan; Susan Tomkins; Robert Hastings
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.

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2013: Catherine L Mercer; Nabeel Affara; Shuwen Huang; Patricia A Jacobs; Alexandra Karcanias; Katherine Lachlan; N Simon Thomas
Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.
European journal of medical genetics 2013;56(1):1-6.
2010: N Simon Thomas; Joan K Morris; Julia Baptista; Bee Ling Ng; John A Crolla; Patricia A Jacobs
De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.
Journal of medical genetics 2010;47(2):112-5.
2009: N Simon Thomas; John F Harvey; David J Bunyan; Julia Rankin; Giedre Grigelioniene; Damien L Bruno; Tiong Y Tan; Susan Tomkins; Robert Hastings
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.
American journal of medical genetics. Part A 2009;149A(7):1407-14.
2009: N Simon Thomas; Vivienne Maloney; Victoria Bryant; Shuwen Huang; Carole Brewer; Katherine Lachlan; Patricia A Jacobs
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4).
Human genetics 2009;125(2):181-8.
2009: C L Mercer; C E Browne; John C K Barber; V K Maloney; S Huang; N Simon Thomas; N Foulds; N MacLachlan
A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH.
Cytogenetic and genome research 2009;124(2):179-86.
2008: N Simon Thomas; Victoria Bryant; Vivienne Maloney; Annette E Cockwell; Patricia A Jacobs
Investigation of the origins of human autosomal inversions.
Human genetics 2008;123(6):607-16.
2008: Julia Baptista; Catherine Mercer; Elena Prigmore; Susan M Gribble; Nigel P Carter; Vivienne Maloney; N Simon Thomas; Patricia A Jacobs; John A Crolla
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.
American journal of human genetics 2008;82(4):927-36.
2007: Claire L S Turner; David J Bunyan; N Simon Thomas; Deborah J G Mackay; Huw P Jones; Hans R Waterham; Ronald J A Wanders; I Karen Temple
Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
American journal of medical genetics. Part A 2007;143A(18):2172-7.
2007: James Self; Fatima Shawkat; Crispin T Malpas; N Simon Thomas; Christopher M Harris; Peter R Hodgkins; Xiaoli Chen; Dorothy Trump; Andrew J Lotery
Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.
Archives of ophthalmology 2007;125(9):1255-63.
2007: John C K Barber; Vivienne Maloney; Maria Kirchhoff; N Simon Thomas; Tracy A Boyle; Bruce Castle
Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.
American journal of medical genetics. Part A 2007;143(6):615-8.
2006: Sara Benito-Sanz; Darya Gorbenko del Blanco; Celine Huber; N Simon Thomas; Miriam Aza-Carmona; David Bunyan; Vivienne Maloney; Jesús Argente; Valérie Cormier-Daire; Angel Campos-Barros; Karen E Heath
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
American journal of human genetics 2006;79(2):409-14; author reply 414.
2006: N Simon Thomas; Miranda Durkie; Gemma Potts; Richard Sandford; Berendine van Zyl; Sheila Youings; Nicholas R Dennis; Patricia A Jacobs
Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
European journal of human genetics : EJHG 2006;14(7):831-7.
2006: N Simon Thomas; Miranda Durkie; Berendine van Zyl; Richard Sanford; Gemma Potts; Sheila Youings; Nicholas R Dennis; Patricia Jacobs
Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man.
Human genetics 2006;119(4):444-50.
2006: Nicholas R Dennis; Marijcke W M Veltman; R Thompson; E Craig; Patrick Bolton; N Simon Thomas
Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.
American journal of medical genetics. Part A 2006;140(5):434-41.
2006: Deborah J G Mackay; Johanne M D Hahnemann; S E Boonen; S Poerksen; David J Bunyan; Helen E White; Victoria J Durston; N Simon Thomas; David O Robinson; Julian P H Shield; J Clayton-Smith; I Karen Temple
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.
Human genetics 2006;119(1-2):179-84.
2006: Katherine L Lachlan; Sheila Youings; T Costa; Patricia A Jacobs; N Simon Thomas
A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions.
Human genetics 2006;118(5):640-51.
2006: Annette E Cockwell; Vivienne Maloney; N Simon Thomas; E L Smith; P Gonda; P Bass; John A Crolla
Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities.
Cytogenetic and genome research 2006;112(1-2):166-9.
2005: Katja M Milner; Ellen E Craig; Russell J Thompson; Marijcke W M Veltman; N Simon Thomas; Sian Roberts; Margaret Bellamy; Sarah R Curran; Caroline M J Sporikou; Patrick Bolton
Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.
Journal of child psychology and psychiatry, and allied disciplines 2005;46(10):1089-96.
2005: Sara Benito-Sanz; N Simon Thomas; Celine Huber; Celine Huber; Darya Gorbenko del Blanco; Darya Gorbenko Del Blanco; Miriam Aza-Carmona; John A Crolla; Vivienne Maloney; Gudrun Rappold; Jesús Argente; Jesus Argente; Angel Campos-Barros; Valérie Cormier-Daire; Valerie Cormier-Daire; Karen E Heath
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
American journal of human genetics 2005;77(4):533-44.
2005: John C K Barber; N Simon Thomas; Morag N Collinson; Nicholas R Dennis; Thomas Liehr; Anja Weise; Britta Belitz; Lutz Pfeiffer; Maria Kirchhoff; Bente Krag-Olsen; Claes Lundsteen
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.
European journal of human genetics : EJHG 2005;13(3):283-91.
2005: Susan M Gribble; Elena Prigmore; Deborah C Burford; Keith Michael Porter; Bee Ling Ng; Eleanor J Douglas; Heike Fiegler; Philippa Carr; Dimitrios Kalaitzopoulos; SM Clegg; R Sandstrom; I K Temple; Sheila Youings; N Simon Thomas; Nicholas R Dennis; Patricia A Jacobs; John A Crolla; Nigel P Carter
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
Journal of medical genetics 2005;42(1):8-16.
2004: Katherine L Lachlan; Morag N Collinson; Richard O C Sandford; Berendine van Zyl; Patricia A Jacobs; N Simon Thomas
Functional disomy resulting from duplications of distal Xq in four unrelated patients.
Human genetics 2004;115(5):399-408.
2004: David J Bunyan; Diana Eccles; Julie Sillibourne; E Wilkins; N Simon Thomas; J Shea-Simonds; P J Duncan; C E Curtis; David O Robinson; John F Harvey; Nicholas C P Cross
Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification.
British journal of cancer 2004;91(6):1155-9.
2004: Patrick Bolton; Marijcke W M Veltman; Emma Weisblatt; Joanne R Holmes; N Simon Thomas; Sheila Youings; Russell J Thompson; Siân E Roberts; Nicholas R Dennis; Caroline E Browne; Sally Goodson; Vanessa Moore; Josie Brown
Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders.
Psychiatric genetics 2004;14(3):131-7.
2004: N Simon Thomas; Vivienne Maloney; Paul Bass; Varsha Mulik; Diana Wellesley; Bruce Castle
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.
American journal of medical genetics. Part A 2004;128A(2):179-84.
2004: Marijcke W M Veltman; Russell J Thompson; Siân E Roberts; N Simon Thomas; Joyce Whittington; Patrick Bolton
Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.
European child & adolescent psychiatry 2004;13(1):42-50.
2003: Siân E Roberts; F Maggouta; N Simon Thomas; Patricia A Jacobs; John A Crolla
Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.
American journal of human genetics 2003;73(5):1061-72.
2003: N Simon Thomas; Siân E Roberts; Caroline E Browne
Estimate of the prevalence of chromosome 15q11-q13 duplications.
American journal of medical genetics. Part A 2003;120A(4):596-8.
2003: N Simon Thomas; T J Hassold
Aberrant recombination and the origin of Klinefelter syndrome.
Human reproduction update 2003;9(4):309-17.
2002: Xiayi Ke; N Simon Thomas; David O Robinson; ANDREW COLLINS
A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genes.
Human genetics 2002;111(6):511-20.
2002: Xiayi Ke; N Simon Thomas; David O Robinson; ANDREW COLLINS
The distinguishing sequence characteristics of mouse imprinted genes.
Mammalian genome : official journal of the International Mammalian Genome Society 2002;13(11):639-45.
2002: Christine A Joyce; Nicholas R Dennis; Francis Howard; Louisa M Davis; N Simon Thomas
An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome.
European journal of human genetics : EJHG 2002;10(11):707-14.
2002: Andrew M Fisher; N Simon Thomas; Annette E Cockwell; Olga Stecko; Bronwyn Kerr; I Karen Temple; Peter Clayton
Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.
Human genetics 2002;111(3):290-6.
2001: Patrick Bolton; Nicholas R Dennis; Caroline E Browne; N Simon Thomas; Marijcke W M Veltman; Russell J Thompson; P Jacobs
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.
American journal of medical genetics 2001;105(8):675-85.
2001: N Simon Thomas; S Ennis; andrew sharp; Miranda Durkie; T J Hassold; ANDREW COLLINS; Patricia A Jacobs
Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors.
Human molecular genetics 2001;10(3):243-50.
2000: N Simon Thomas; ANDREW COLLINS; T J Hassold; Patricia A Jacobs
A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin.
European journal of human genetics : EJHG 2000;8(10):805-8.
1999: N Simon Thomas; Caroline E Browne; C Oley; S Healey; John A Crolla
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.
Human genetics 1999;105(5):384-7.
1999: J Wilkinson; N Simon Thomas; Newton Morton; Stephen T Holgate
Candidate gene and mutational analysis in asthma and atopy.
International archives of allergy and immunology 1999;118(2-4):265-7.
1999: N Simon Thomas; andrew sharp; Caroline E Browne; David Skuse; C Hardie; Nicholas R Dennis
Xp deletions associated with autism in three females.
Human genetics 1999;104(1):43-8.
1998: J Wilkinson; S Grimley; ANDREW COLLINS; N Simon Thomas; Stephen T Holgate; Newton Morton
Linkage of asthma to markers on chromosome 12 in a sample of 240 families using quantitative phenotype scores.
Genomics 1998;53(3):251-9.
1998: RS James; BD Coppin; P Dalton; Nicholas R Dennis; C Mitchell; andrew sharp; David Skuse; N Simon Thomas; Patricia A Jacobs
A study of females with deletions of the short arm of the X chromosome.
Human genetics 1998;102(5):507-16.