Susan M White

Summary

Affiliation: Genetic Health Services Victoria
Country: Australia

Publications

  1. ncbi request reprint Confined blood chimerism in monochorionic dizygous (MCDZ) twins
    Susan P Walker
    Perinatal Medicine, Mercy Hospital for Women, 163 Studley Road, Heidelberg 3084, Australia
    Prenat Diagn 27:369-72. 2007
  2. ncbi request reprint Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome
    Susan M White
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Australia
    Am J Med Genet A 155:2512-5. 2011
  3. doi request reprint Drawing attention to difference: dilemmas in discussing dysmorphism with parents
    Susan M White
    Genetic Health Services Victoria Genetics Education and Health Research, Royal Children s Hospital, Parkville, Melbourne, Victoria, Australia
    J Paediatr Child Health 47:763-5. 2011
  4. doi request reprint The phenotype of Floating-Harbor syndrome in 10 patients
    Susan M White
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Victoria, Australia
    Am J Med Genet A 152:821-9. 2010
  5. ncbi request reprint The adult phenotype in Costello syndrome
    Susan M White
    Genetic Health Services Victoria, Royal Children s Hospital, Australia
    Am J Med Genet A 136:128-35. 2005
  6. doi request reprint Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, Australia
    Tiong Yang Tan
    Genetic Health Services Victoria, 10th floor Royal Children s Hosiptal, Flemington Road, Parkville, VIC 3052, Australia tiong tan org au
    Cleft Palate Craniofac J 46:583-7. 2009
  7. ncbi request reprint Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?
    David J Coman
    Genetic Health Services Victoria, The Royal Children s Hospital, Melbourne, Victoria, Australia
    Am J Med Genet A 143:2085-8. 2007
  8. ncbi request reprint Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome
    Peter Kannu
    Genetic Health Services Victoria, Flemington Road, Parkville, Australia
    Am J Med Genet A 140:887-91. 2006
  9. ncbi request reprint Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Parkville, Australia
    Am J Med Genet A 138:369-73. 2005
  10. ncbi request reprint Severe fetal brain dysgenesis with focal calcification
    R J McKinlay Gardner
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Prenat Diagn 25:362-4. 2005

Collaborators

Detail Information

Publications17

  1. ncbi request reprint Confined blood chimerism in monochorionic dizygous (MCDZ) twins
    Susan P Walker
    Perinatal Medicine, Mercy Hospital for Women, 163 Studley Road, Heidelberg 3084, Australia
    Prenat Diagn 27:369-72. 2007
    ..To present the risk factors, prenatal and postnatal implications of monochorionic dyzygotic twinning...
  2. ncbi request reprint Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome
    Susan M White
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Australia
    Am J Med Genet A 155:2512-5. 2011
    ..SNP microarray analysis of one family member showed no evidence of copy number change. This family's condition fits within the spectrum of dominant deafness-onychodystrophy syndrome (DDOD) and further characterises this rare condition...
  3. doi request reprint Drawing attention to difference: dilemmas in discussing dysmorphism with parents
    Susan M White
    Genetic Health Services Victoria Genetics Education and Health Research, Royal Children s Hospital, Parkville, Melbourne, Victoria, Australia
    J Paediatr Child Health 47:763-5. 2011
    ..Here, we explored the challenges inherent in dialogue about dysmorphism and offer suggestions for communication strategies that are grounded in both theory and practice...
  4. doi request reprint The phenotype of Floating-Harbor syndrome in 10 patients
    Susan M White
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Victoria, Australia
    Am J Med Genet A 152:821-9. 2010
    ..Early puberty was noted. Adult heights were 140-155 cm. Microarray analysis in eight of the patients provided no evidence that FHS is caused by a large-scale copy-number genomic change...
  5. ncbi request reprint The adult phenotype in Costello syndrome
    Susan M White
    Genetic Health Services Victoria, Royal Children s Hospital, Australia
    Am J Med Genet A 136:128-35. 2005
    ..Screening for microscopic hematuria as a marker for bladder carcinoma may be indicated, although this requires further evaluation...
  6. doi request reprint Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, Australia
    Tiong Yang Tan
    Genetic Health Services Victoria, 10th floor Royal Children s Hosiptal, Flemington Road, Parkville, VIC 3052, Australia tiong tan org au
    Cleft Palate Craniofac J 46:583-7. 2009
    ..To study the birth defects and syndromes associated with cleft lip and/or cleft palate in children born from 2000 through 2002 in Victoria, Australia, comparing data from the birth defects registry and detailed clinical assessment...
  7. ncbi request reprint Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?
    David J Coman
    Genetic Health Services Victoria, The Royal Children s Hospital, Melbourne, Victoria, Australia
    Am J Med Genet A 143:2085-8. 2007
    ..The sibling recurrence suggests autosomal recessive or X-linked patterns of inheritance...
  8. ncbi request reprint Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome
    Peter Kannu
    Genetic Health Services Victoria, Flemington Road, Parkville, Australia
    Am J Med Genet A 140:887-91. 2006
    ....
  9. ncbi request reprint Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Parkville, Australia
    Am J Med Genet A 138:369-73. 2005
    ..Gomez-Lopez-Hernandez syndrome and isolated rhombencephalosynapsis may have a common etiology...
  10. ncbi request reprint Severe fetal brain dysgenesis with focal calcification
    R J McKinlay Gardner
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Prenat Diagn 25:362-4. 2005
    ..To describe a fetal syndrome of abnormal brain development with intracranial calcification, identified in three successive pregnancies...
  11. ncbi request reprint 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...
  12. doi request reprint Two cases of trisomy 16 mosaicism ascertained postnatally
    Claudine Rieubland
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 149:1523-8. 2009
    ..While Patient 2 presented with typical features of chromosomal mosaicism, Patient 1 had mild and transient features with essentially normal outcome, suggesting that trisomy 16 mosaicism may be under-diagnosed...
  13. ncbi request reprint Midline raphé, sternal cleft, and other midline abnormalities: a new dominant syndrome?
    Francesca Forzano
    Clinical Genetics Unit, Great Ormond Street Hospital, London, United Kingdom
    Am J Med Genet A 135:9-12. 2005
    ..This family is also important as it points to a possible genetic cause for at least some cases of this disorder of the ventral midline...
  14. ncbi request reprint Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6
    Jeannie Visootsak
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    J Pediatr 145:819-25. 2004
    ..To describe clinical and behavioral features of 10 men from 2 families with Borjeson-Forssman-Lehmann syndrome (BFLS) and missense mutations in the PHF6 zinc-finger transcription factor gene...
  15. ncbi request reprint Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness
    Michael S Hildebrand
    Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 143:2564-75. 2007
    ..Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates...
  16. ncbi request reprint An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation
    Angela Arnold
    Opaldia Limited, 27 Fitzroy Square, London W1T 6ES, UK
    Fam Cancer 6:317-21. 2007
    ..This finding demonstrates that MSH6 gene analysis should be considered in MTS families where no MSH2 or MLH1 gene mutations have been found...
  17. ncbi request reprint Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
    Karen M Lower
    Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women s and Children s Hospital, 72 King William Rd, North Adelaide, SA 5006, Australia
    Nat Genet 32:661-5. 2002
    ..Such localization, and the presence of two PHD-like zinc fingers, is suggestive of a role for PHF6 in transcription...