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Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia

Nature genetics, 1996-04, Vol.12 (4), p.448-451

1996

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Case-control study of congenital anomalies in children of cancer patients

BMJ, 1993-07, Vol.307 (6897), p.164-168

International edition, 1993

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Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

Clinical genetics, 2000-05, Vol.57 (5), p.388-393

2000

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Risk of congenital anomalies in children of parents occupationally exposed to low level ionising radiation

Occupational and environmental medicine (London, England), 1997-09, Vol.54 (9), p.629-635

1997

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Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial (CEMAT)

Prenatal diagnosis, 1999-07, Vol.19 (7), p.620-627

1999

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Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells

American journal of human genetics, 2005-07, Vol.77 (1), p.132-139

2005

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Correction of the spontaneous and DEB-induced chromosomal aberrations in Fanconi anemia cells of the FA(C) complementation group by the FACC gene

Cytogenetic and genome research, 1996-01, Vol.72 (2-3), p.194-196

1996

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A Study of Sister Chromatid Exchange and Somatic Cell Mutation in Hospital Workers Exposed to Ethylene Oxide

Environmental health perspectives, 1993-10, Vol.101 (suppl 3), p.159-164

1993

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Transformation of human cultured fibroblasts with plasmids carrying dominant selection markers and immortalizing potential

Experimental cell research, 1986-12, Vol.167 (2), p.407-416

1986

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Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat

Prenatal diagnosis, 2000-12, Vol.20 (12), p.947-949

2000

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Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics?

American journal of human genetics, 1984-11, Vol.36 (6), p.1332-1340

1984

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Somatic cell hybridization of Roberts Syndrome and normal lymphoblasts resulting in correction of both the cytogenetic and mutagen hypersensitivity cellular phenotypes

Somatic cell and molecular genetics, 1991-09, Vol.17 (5), p.455-462

1991

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Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry

American journal of medical genetics, 2002-09, Vol.112 (1), p.86-90

2002

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Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism

American journal of medical genetics, 1998-05, Vol.77 (4), p.306-309

1998

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Unstable familial translocations: A t(11;22)mat inherited as a t(11;15)

American journal of human genetics, 1981-09, Vol.33 (5), p.745-751

Tomkins, D J

1981

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Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty

European journal of human genetics : EJHG, 1996, Vol.4 (3), p.153-159

1996

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Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis

The Lancet (British edition), 1998-01, Vol.351 (9098), p.242-247

1998

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False-positive and false-negative cytogenetic findings on chorionic villus sampling

Prenatal diagnosis, 1989-02, Vol.9 (2), p.139-140

1989

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Somatic cell hybridization of Roberts syndrome and normal human fibroblasts transfected with plasmids carrying dominant selection markers

Somatic cell and molecular genetics, 1987-05, Vol.13 (3), p.245-252

1987

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Heterogeneity in Roberts syndrome

American journal of medical genetics, 1995-01, Vol.55 (2), p.188-194

1995

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‘Political questions’ and non-justiciability in US federal and English public law

Tomkins, D J

2012

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Effect of sample holding, cryopreservation, and storage on the human lymphocyte cytogenetic test

American journal of industrial medicine, 1986, Vol.9 (4), p.385-390

1986

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Development and characterization of immortalized fibroblastoid cell lines from an FA(C) mouse model

Mutation research, 1998-07, Vol.408 (1), p.27-35

1998

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De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion

American journal of medical genetics, 1999-05, Vol.84 (2), p.116-119

1999

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Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality

Mutation Research/Environmental Mutagenesis and Related Subjects, 1989-10, Vol.216 (5), p.243-249

1989

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Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia

Case-control study of congenital anomalies in children of cancer patients

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

Risk of congenital anomalies in children of parents occupationally exposed to low level ionising radiation

Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial (CEMAT)

Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells

Correction of the spontaneous and DEB-induced chromosomal aberrations in Fanconi anemia cells of the FA(C) complementation group by the FACC gene

A Study of Sister Chromatid Exchange and Somatic Cell Mutation in Hospital Workers Exposed to Ethylene Oxide

Transformation of human cultured fibroblasts with plasmids carrying dominant selection markers and immortalizing potential

Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat

Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics?

Somatic cell hybridization of Roberts Syndrome and normal lymphoblasts resulting in correction of both the cytogenetic and mutagen hypersensitivity cellular phenotypes

Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry

Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism

Unstable familial translocations: A t(11;22)mat inherited as a t(11;15)

Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty

Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis

False-positive and false-negative cytogenetic findings on chorionic villus sampling

Somatic cell hybridization of Roberts syndrome and normal human fibroblasts transfected with plasmids carrying dominant selection markers

Heterogeneity in Roberts syndrome

‘Political questions’ and non-justiciability in US federal and English public law

Effect of sample holding, cryopreservation, and storage on the human lymphocyte cytogenetic test

Development and characterization of immortalized fibroblastoid cell lines from an FA(C) mouse model

De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion

Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality

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