R. Bell

发表

Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.

M. Patton, V. Murday, R. Bell, 2001, Genetic testing.

Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene

K. Burnand, S. Mansour, D. Callen, 2001, Human Genetics.

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

K. Burnand, S. Mansour, A. Child, 2002, Journal of medical genetics.

Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function.

P. Khaw, S. Tuft, S. Bhattacharya, 2003, Investigative ophthalmology & visual science.

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema

A. Child, P. Comeglio, G. Brice, 2003, Journal of medical genetics.

Systematic screening of the 14-3-3 eta (eta) chain gene for polymorphic variants and case-control analysis in schizophrenia.

D. Collier, R. Kerwin, J. Powell, 2000, American journal of medical genetics.

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Trevor J Pugh, J. Ragoussis, C. Greenwood, 2021, Genome medicine.

Systematic screening of the LDL-PLA2 gene for polymorphic variants and case-control analysis in schizophrenia.

D. Collier, R. Kerwin, S. Rice, 1997, Biochemical and biophysical research communications.

No evidence for linkage between the X-chromosome marker DXS7 and schizophrenia.

R. Murray, D. Collier, M. Gill, 1995, American journal of medical genetics.

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2

K. Burnand, S. Mansour, A. Child, 2008, European Journal of Human Genetics.

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations

Alberto Smith, K. Burnand, S. Mansour, 2005, Human Genetics.

Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb

K. Burnand, S. Mansour, D. Callen, 2000, Journal of medical genetics.

Milroy disease and the VEGFR-3 mutation phenotype

K. Burnand, S. Mansour, A. Child, 2005, Journal of Medical Genetics.

A child with a recombinant of chromosome 8 inherited from her carrier mother.

R. Bell, D. Kumar, I. Barnes, 1985, Journal of medical genetics.

Distichiasis without lymphoedema?

G. Brice, R. Bell, S. Jeffery, 2004, Eye.

Homocysteine levels in men and women of different ethnic and cultural background living in England.

D. Cook, F. Cappuccio, I. Perry, 2002, Atherosclerosis.

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

K. Burnand, S. Mansour, A. Child, 2002, Journal of medical genetics.