M. Boxer

发表

Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database

Gabor Matyas, Christophe Béroud, Claudine Junien, 2003, Human mutation.

TGF-beta1 binding protein-like modules of fibrillin-1 and -2 mediate integrin-dependent cell adhesion.

C. D'Arrigo, M. Boxer, S. Burl, 1998, Connective tissue research.

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

S. Humphries, H. Middleton-Price, M. Boxer, 2001, European Journal of Human Genetics.

Genetic analysis of microsomal epoxide hydrolase in patients with carbamazepine hypersensitivity.

M. Pirmohamed, D. Grant, B. Burchell, 1995, Biochemical pharmacology.

Absence of exon 15 BRAF germline mutations in familial melanoma

R. MacKie, J. Lang, M. Boxer, 2003, Human mutation.

Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival.

R. Devereux, M. Roman, P. Tsipouras, 1995, Journal of the American College of Cardiology.

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

P. Robinson, C. Hagemeier, P. Booms, 1997, Human Genetics.

Life expectancy in British Marfan syndrome populations

M. Porteous, J. Dean, A. Stuart, 1998, Clinical genetics.

Life expectancy in the Marfan syndrome.

N. Kouchoukos, R. Devereux, M. Bosner, 1995, The American journal of cardiology.

Ascertainment and severity of Marfan syndrome in a Scottish population.

T. Pringle, P. Baines, J. Dean, 1994, Journal of medical genetics.

Muscle fibrillin deficiency in Marfan’s syndrome myopathy

A. Child, P. Comeglio, W. Behan, 2003, Journal of neurology, neurosurgery, and psychiatry.

Neonatal Marfan syndrome: A case report

M. Boxer, K. Mak, K. Mak, 1999, Journal of paediatrics and child health.

Localization of a bile acid UDP-glucuronosyltransferase gene (UGT2B) to chromosome 4 using the polymerase chain reaction.

S. Povey, B. Burchell, M. Boxer, 1992, Genomics.

A germline mutation in KIT in familial diffuse cutaneous mastocytosis

A. Burden, M. Hodgins, M. Boxer, 2004, Journal of Medical Genetics.

Chromosomal assignment of human phenol and bilirubin UDP‐glucuronosyltransferase genes (UGT1A‐subfamily)

R. Wooster, S. Povey, B. Burchell, 1992, Annals of human genetics.

DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex

E. Lane, R. Bergman, T. Falik-Zaccai, 2000, Prenatal diagnosis.

Missing links: Weber–Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

I. Leigh, H. Navsaria, M. Boxer, 1993, Nature Genetics.

CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families

R. MacKie, J. Lang, M. Boxer, 2005, The British journal of dermatology.

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype

D. Baty, J. Gray, M. Boxer, 1998, Human mutation.

Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias.

B. Burchell, R. Hume, A. Cassidy, 1997, Clinica chimica acta; international journal of clinical chemistry.

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

M. Bitner-Glindzicz, R. Trompeter, M. Boxer, 2000, Journal of medical genetics.

Prenatal exclusion testing for Huntington's disease: a problem of too much information.

A. Curtis, M. Boxer, D. Brock, 1989, Journal of medical genetics.

Understanding Marfan's syndrome.

J. Gray, M. Boxer, A. Bridges, 1992, BMJ.

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

G Collod-Béroud, C Béroud, L Adès, 1997, Nucleic Acids Res..

Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.

B. Burchell, M. Boxer, N. Moghrabi, 1993, Genomics.

Marfan Database (third edition): new mutations and new routines for the software

Hanns-Georg Klein, Christophe Béroud, Gwenaëlle Collod-Béroud, 1998, Nucleic Acids Res..

A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.

C Junien, M Sarfarazi, P Farndon, 1992, Journal of medical genetics.

Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

M. Sarfarazi, B. Weiffenbach, P. Tsipouras, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Marfan syndrome in a large family: response of family members to a screening programme.

C. Bundy, J. Gray, M. Boxer, 1992, Journal of medical genetics.

Marfan syndrome affecting four generations of a family without ocular involvement.

T. Pringle, G. Mcneill, M. Boxer, 1991, Postgraduate medical journal.

Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.

B. Burchell, M. Boxer, N. Moghrabi, 1993, American journal of human genetics.

Structure of the human UGT2B4 gene encoding a bile acid UDP-glucuronosyltransferase

B. Burchell, M. Boxer, G. Monaghan, 1997, Mammalian Genome.

Osteoporosis and the Marfan syndrome.

C. Paterson, T. Pringle, P. Mole, 1993, Postgraduate medical journal.

Isolation of a human YAC contig encompassing a cluster of UGT2 genes and its regional localization to chromosome 4q13.

C. G. See, S. Povey, B. Burchell, 1994, Genomics.

Compartmentation of PO4 - Uptake and 32P Efflux in the Rhizoid Cells of Chara hispida L.

D. Boxer, M. Boxer, R. Box, 1985 .