J. Macpherson

发表

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

New neuropathological findings in Unverricht–Lundborg disease: neuronal intranuclear and cytoplasmic inclusions

J. Nicoll, S. Hammans, N. R. Cohen, 2011, Acta Neuropathologica.

Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.

E. Eichler, D. Nelson, M. Yalon, 1997, American journal of human genetics.

Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia

P. Jacobs, S. Hammans, J. Macpherson, 2003, Human Genetics.

Genotype-Phenotype Correlations in the Fragile X Syndrome, Using Direct Diagnosis with Probe StB 12.3: The First 2,253 Cases

P. Jacobs, D. Schorderet, F. Rousseau, 2007 .

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency

A. Ashworth, N. Orr, A. Swerdlow, 2013, Genetics in Medicine.

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

P. Jacobs, A. Murray, S. Youings, 1996, Human molecular genetics.

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

C. Mathew, F. Rousseau, A. Barnicoat, 1994, American journal of human genetics.

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation.

P. Jacobs, S. Youings, J. Macpherson, 1994, Human molecular genetics.

Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.

N. Morton, J. Macpherson, 1992, Proceedings of the National Academy of Sciences of the United States of America.

DNA panel for interlaboratory standardization of haplotype studies on the fragile X syndrome and proposal for a new allele nomenclature.

F. Rousseau, P. Chiurazzi, M. Pomponi, 1999, American journal of medical genetics.

FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability.

N. Morton, P. Jacobs, A. Murray, 1998, Proceedings of the National Academy of Sciences of the United States of America.

An n-allele model for progressive amplification in the FMR1 locus.

N. Morton, A. Morris, A. Collins, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility

J. Macpherson, D. Bunyan, R. Howarth, 2022, Journal of reproduction & infertility.

Allelic association in the FRAX region

N. Morton, A. Murray, S. Ennis, 2000, Annals of Human Genetics.

Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations

A. Murray, J. Macpherson, 2016, Genes.

Practice Guidelines for Molecular Diagnosis of Fragile X Syndrome

J. Macpherson, A. Sharif, 2014 .

1 Practice Guidelines for Molecular Diagnosis of Fragile X Syndrome

J. Macpherson, A. Sharif, 2014 .

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

A. Vianna-Morgante, M. Milá, S. Nolin, 2019, American journal of medical genetics. Part A.

Fragile X disease.

V. Biancalana, J. Macpherson, 2004, Methods in molecular medicine.

Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles.

B. No̸rgaard-Pedersen, J. Vuust, L. Larsen, 2000, American journal of medical genetics.

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

W. Brown, J. Mandel, H. Hjalgrim, 2003, American journal of human genetics.

Evolutionary dynamics of the FMR1 locus

N. Morton, A. Morris, A. Collins, 1995, Annals of Human Genetics.

Extensive linkage disequilibrium in the achaete-scute complex of Drosophila melanogaster.

B. Weir, A. Leigh Brown, J. Macpherson, 1990, Genetics.

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

E. Eichler, D. Nelson, P. Jacobs, 1996, Human molecular genetics.

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.

C. Gunter, D. Nelson, S. Warren, 1998, Human molecular genetics.

Significance of linkage disequilibrium between the fragile X locus and its flanking markers.

G. Neri, P. Chiurazzi, S. Sherman, 1996, American journal of medical genetics.

Population studies of the fragile X: a molecular approach.

P. Jacobs, S. Youings, A. Watson, 1993, Journal of medical genetics.

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

K. Davies, S. Knight, J. Barber, 1993, Journal of medical genetics.

9th international workshop on fragile X syndrome and X-linked mental retardation.

G. Ramakers, D. Nelson, C. Schwartz, 2000, American journal of medical genetics.

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.

N. Morton, P. Jacobs, A. Murray, 1997, Human Molecular Genetics.

Stability and haplotype analysis of the FRAXE region

N. Morton, P. Jacobs, A. Murray, 2000, European Journal of Human Genetics.

Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.

P. Jacobs, A. Murray, G. Conway, 2010, Human reproduction.

FMR1 CGG expansion to full mutation: What is the lower limit in premutation females?

W. Brown, J. Mandel, H. Hjalgrim, 2000 .

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.

E. Eichler, D. Nelson, P. Ward, 1995, Human molecular genetics.

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

B. Migeon, K. Davies, J. Crolla, 1995, Journal of medical genetics.

Reproductive genetics Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure

P. Jacobs, A. Murray, G. Conway, 2010 .

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.

P. Jacobs, J. Macpherson, N. Dennis, 1992, American journal of medical genetics.

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation

Cristina E. Trevino, D. Cutler, M. Epstein, 2021, Fertility and sterility.

Allelic association discriminates draft orders

N. Morton, W. Tapper, A. Murray, 2001, Annals of human genetics.

Fragile X syndrome: of POF and premutations

P. Jacobs, A. Murray, J. Webb, 1999, Journal of medical genetics.

A reinvestigation of thirty three fragile(X) families using probe StB12.3.

P. Jacobs, F. Rousseau, T. Webb, 1992, American journal of medical genetics.