F Goodman

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. ncbi Congenital abnormalities of body patterning: embryology revisited
    Frances R Goodman
    Molecular Medicine Unit, Institute of Child Health, WC1N 1EH, London, UK
    Lancet 362:651-62. 2003
  2. pmc Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families
    F Goodman
    Molecular Medicine Unit, University of Florence
    Am J Hum Genet 63:992-1000. 1998
  3. ncbi Limb malformations and the human HOX genes
    Frances R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, England
    Am J Med Genet 112:256-65. 2002
  4. pmc Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
    F R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Hum Genet 67:197-202. 2000
  5. ncbi Human HOX gene mutations
    F R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, UK
    Clin Genet 59:1-11. 2001
  6. pmc A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
    Frances R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Hum Genet 70:547-55. 2002
  7. ncbi Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family
    M Tischkowitz
    Clinical Genetics Unit, Institute of Child Health, London, UK
    Clin Genet 66:550-5. 2004
  8. pmc Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
    F R Goodman
    Molecular Medicine Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom
    Proc Natl Acad Sci U S A 94:7458-63. 1997
  9. ncbi Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
    D J Shears
    Department of Clinical Genetics, Institute of Child Health, London, UK
    Nat Genet 19:70-3. 1998
  10. ncbi Acromelic frontonasal dysostosis
    S F Slaney
    Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK
    Am J Med Genet 83:109-16. 1999

Collaborators

Detail Information

Publications14

  1. ncbi Congenital abnormalities of body patterning: embryology revisited
    Frances R Goodman
    Molecular Medicine Unit, Institute of Child Health, WC1N 1EH, London, UK
    Lancet 362:651-62. 2003
    ....
  2. pmc Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families
    F Goodman
    Molecular Medicine Unit, University of Florence
    Am J Hum Genet 63:992-1000. 1998
    ..Either possibility has interesting implications for the role of HOXD13 in human autopod development...
  3. ncbi Limb malformations and the human HOX genes
    Frances R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, England
    Am J Med Genet 112:256-65. 2002
    ..Limb malformations may also result from chromosomal deletions involving the HOXD and HOXA clusters, and from regulatory mutations affecting single or multiple HOX genes...
  4. pmc Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
    F R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Hum Genet 67:197-202. 2000
    ..Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism...
  5. ncbi Human HOX gene mutations
    F R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, UK
    Clin Genet 59:1-11. 2001
    ..Here we review the mutations already identified in these two genes, consider how these mutations may act, and discuss the possibility that further mutations remain to be discovered both in developmental disorders and in cancer...
  6. pmc A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
    Frances R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Hum Genet 70:547-55. 2002
    ..They also suggest that there is a regulatory region, upstream of the HOXD cluster, that is responsible for activating the cluster as a whole...
  7. ncbi Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family
    M Tischkowitz
    Clinical Genetics Unit, Institute of Child Health, London, UK
    Clin Genet 66:550-5. 2004
    ..We further delineate the phenotype of this condition in females and add weight to the observation that this is a true syndromic association...
  8. pmc Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
    F R Goodman
    Molecular Medicine Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom
    Proc Natl Acad Sci U S A 94:7458-63. 1997
    ....
  9. ncbi Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
    D J Shears
    Department of Clinical Genetics, Institute of Child Health, London, UK
    Nat Genet 19:70-3. 1998
    ..A point mutation leading to a premature stop in exon 4 of SHOX was identified in one LWD family...
  10. ncbi Acromelic frontonasal dysostosis
    S F Slaney
    Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK
    Am J Med Genet 83:109-16. 1999
    ....
  11. ncbi The mutational spectrum of brachydactyly type C
    David B Everman
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Am J Med Genet 112:291-6. 2002
    ..These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5...
  12. ncbi Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families
    Ravi Savarirayan
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Australia
    Am J Med Genet A 117:136-42. 2003
    ..e., clubfoot, short stature, spondylolysis) may also result from CDMP-1 mutation...
  13. ncbi An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function
    Giuliana Caronia
    Department of Molecular Biology and Functional Genomics, DIBIT H San Raffaele, Via Olgettina 58, 20132 Milano, Italy
    Development 130:1701-12. 2003
    ....
  14. ncbi A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
    Jeffrey W Innis
    Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI, USA
    Hum Mutat 19:573-4. 2002
    ..The missense mutation, which alters a key residue in the recognition helix of the homeodomain, is likely to perturb HOXA13's DNA-binding properties, resulting in both a loss and a specific gain of function...