J. Fantes

发表

J. Fantes, 2004, Chromosome Research.

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

D. Ledbetter, S. Christian, W. Dobyns, 2001, Journal of medical genetics.

Molecular and physical arrangements of human DNA in HRAS1-selected, chromosome-mediated transfectants

D. Porteous, N. Hastie, V. van Heyningen, 1986, Molecular and cellular biology.

Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations

D. Fitzpatrick, M. Whiteford, J. Fantes, 2010, PloS one.

Bilateral renal agenesis / hypoplasia / dysplasia ( BRAHD )

D. Fitzpatrick, M. Whiteford, J. Fantes, 2010 .

Direct microdissection and microcloning of a translocation breakpoint region, t(1;11)(q42.2;q21), associated with schizophrenia.

A. Brookes, W. Muir, K. Evans, 1995, Cytogenetics and Cell Genetics.

‘Crommelin-type’ symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)

J. Opitz, D. Fitzpatrick, J. Fantes, 2010, Clinical dysmorphology.

Diabetes and heat shock protein

Radhey S. Gupta, J. Fantes, D. Bowen-Jones, 1992, Nature.

The structure of a subterminal repeated sequence present on many human chromosomes.

S. Cross, H. Cooke, N. McGill, 1990, Nucleic acids research.

APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

A. Wyllie, M. Dunlop, A. Condie, 1994, British Journal of Cancer.

Oligonucleotide-primed in situ DNA synthesis (PRINS): a method for chromosome mapping, banding, and investigation of sequence organization.

D. Porteous, J. Gosden, J. Fantes, 1991, Cytogenetics and cell genetics.

A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.

E. Bruford, S. Boyle, A. Schedl, 1995, Genomics.

Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.

D. Porteous, G. Spowart, V. van Heyningen, 1985, Proceedings of the National Academy of Sciences of the United States of America.

Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

W. Bickmore, I. Hanson, V. van Heyningen, 1992, American journal of human genetics.

The Flow Cytometry Approach to Automated Chromosome Analysis

D. K. Green, J. Fantes, 1989 .

Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.

D. Ledbetter, D. Pilz, N. Matsumoto, 1998, Journal of medical genetics.

Functional reintroduction of human telomeres into mammalian cells.

P. Goodfellow, H. Cooke, J. Fantes, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Lambda CM8, a human sequence with putative centromeric function, does not map to the centromere but is present in one to two copies at 9qter.

H. Cooke, N. McGill, J. Fantes, 1992, Human molecular genetics.

Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I.

K. Steel, W. Muir, K. Evans, 1993, Human molecular genetics.

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.

J. Crolla, V. van Heyningen, J. Fantes, 1997, Journal of medical genetics.

Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype.

S. Scherer, L. Tsui, S. Boyle, 1996, Genomics.

Karyotyping and identification of human chromosome polymorphisms by single fluorochrome flow cytometry

D. K. Green, P. Malloy, A. Carothers, 2004, Human Genetics.

Enhancer‐adoption as a mechanism of human developmental disease

Harris Morrison, E. Sweeney, L. Lettice, 2011, Human mutation.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

A. Munnich, H. R. Crollius, D. McBride, 2009, Nature Genetics.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Mutations in SOX2 cause anophthalmia

C. Hayward, D. Fitzpatrick, S. Lynch, 2003, Nature Genetics.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Variegated transgene expression in mouse mammary gland is determined by the transgene integration locus.

R. Lathe, A. Clark, M. Lee, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Identification of SATB2 as the cleft palate gene on 2q32-q33.

D. Bonthron, H. Firth, C. Hayward, 2003, Human molecular genetics.

Using BAC clones to characterize unbalanced chromosome abnormalities in interphase cells.

J. Fantes, R. Angelopoulou, J. Ramsay, 2006, European journal of medical genetics.

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.

Y. Fukushima, W. Bickmore, S. Boyle, 1995, Human molecular genetics.

The evolutionary origin of human subtelomeric homologies--or where the ends begin.

D. Ledbetter, C. Martin, A. Wong, 2002, American journal of human genetics.

CpG islands of chicken are concentrated on microchromosomes

S. Cross, A. Bird, A. Archibald, 1996, Nature Genetics.

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

D. Ledbetter, S. Christian, J. Fantes, 1999, Human molecular genetics.

Application of automation to the detection of radiation damage using FISH technology.

J Piper, D. K. Green, J. Piper, 1995, International journal of radiation biology.

Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.

J. Hewitt, J. Armour, D. Bolland, 2007, American journal of human genetics.

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

B. Druker, J. Fantes, A. Imamoto, 2001, Nature Genetics.

Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q

D. Ledbetter, S. Christian, V. Dyomin, 2002, Journal of medical genetics.

A novel atypical 22q11.2 distal deletion in father and son

M. Porteous, J. Burns, J. Fantes, 2002, Journal of medical genetics.

A novel atypical 22q11.2 distal deletion in father and son

M. Porteous, J. Burns, J. Fantes, 2002, Journal of medical genetics.

The human serum amyloid A protein (SAA) superfamily gene cluster: mapping to chromosome 11p15.1 by physical and genetic linkage analysis.

W. Bickmore, A. Whitehead, V. van Heyningen, 1994, Genomics.

Trisomy 12 in B‐cell chronic lymphocytic leukaemia: assessment of lineage restriction by simultaneous analysis of immunophenotype and genotype in interphase cells by fluorescence in situ hybridization

D. Catovsky, E. Matutes, D. Oscier, 1994, British journal of haematology.

Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids

D. Porteous, Harris Morrison, N. Hastie, 1988, Somatic cell and molecular genetics.

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

D. Fitzpatrick, R. C. Rogers, P. Turnpenny, 2006, Human molecular genetics.

Telomeric associations in a lymphoblastoid cell line from a patient with B-cell follicular lymphoma.

J. Fantes, D. Saltman, H. J. Evans, 1989, Cytogenetics and cell genetics.

Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.

D. J. Driscoll, B. Migeon, J. Axelman, 1996, American journal of human genetics.

De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

C. Gosden, J. Fantes, D. Bonthron, 1993, American journal of human genetics.

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

J. Connor, V. Murday, J. Fantes, 2005, Journal of Medical Genetics.

The results of colchicine treatment of dihaploids and their implications regarding efficiency of chromosome doubling and potato histogeny

M. Maine, J. Fantes, 1983, Potato Research.

Use of an alphoid satellite sequence to locate the X chromosome automatically, with particular reference to identification of the fragile X.

J. Piper, J. Gosden, J. Fantes, 1988, Cytogenetics and cell genetics.

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

J. Clayton-Smith, J. Goodship, H. Stewart, 2008, American journal of human genetics.

Chromosomes and Sorting by Flow Cytometry

D. K. Green, H. Evans, J. Fantes, 1986 .

Human Metaphase Chromosomes

D. K. Green, H. Evans, J. Fantes, 1986 .

Automatic detection of fragile X chromosomes using an X centromere probe.

J. Piper, J. Gosden, L. Ji, 1990, Cytometry.

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?

R. Hennekam, C. Aalfs, V. van Heyningen, 1997, American journal of medical genetics.

Characterization of physical gap sizes at human telomeres.

D. Ledbetter, H. Riethman, J. Fantes, 1999, Genome research.

Hardware and software requirements for quantitative analysis of comparative genomic hybridization.

J. M. García-Sagredo, J. Piper, D. Sudar, 1995, Cytometry.

Flow cytometry measurements of human chromosome kinetochore labeling.

D. K. Green, A. T. Sumner, P. Malloy, 1989, Cytometry.

10 – Detection of Randomly Occurring Aberrant Chromosomes as a Measure of Genetic Change

D. K. Green, J. Fantes, J. H. Evans, 1989 .

The LEF1/β-catenin complex activates movo1, a mouse homolog of Drosophila ovo required for epidermal appendage differentiation

E. Fuchs, A. Mahowald, M. Waterman, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Purifying human Y chromosomes by flow cytometry and sorting.

D. K. Green, H. Cooke, J. Fantes, 1983, Cytometry.

A 6.9-Mb high-resolution BAC/PAC contig of human 4p15.3-p16.1, a candidate region for bipolar affective disorder.

D. Bentley, M. Ross, W. Muir, 2001, Genomics.

Karyotype and chromosomal banding pattern in Heteropeza pygmaea

R. Camenzind, J. Fantes, 2004, Chromosoma.

Improved accuracy of in-flow chromosome fluorescence measurements by digital processing of multi-parameter flow data

D. K. Green, Judith A. Fantes, J. Fantes, 1983 .

Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of Chromosome 2p23

D. Bonthron, A. Markham, J. Leek, 1996, Mammalian Genome.