Research Topics
| Susan M WhiteSummaryAffiliation: Genetic Health Services Victoria Country: Australia Publications
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Detail Information
Publications
Confined blood chimerism in monochorionic dizygous (MCDZ) twinsSusan 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...
Drawing attention to difference: dilemmas in discussing dysmorphism with parentsSusan 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...- The phenotype of Floating-Harbor syndrome in 10 patientsSusan 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... - Report of a further family with dominant deafness-onychodystrophy (DDOD) syndromeSusan 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... - The adult phenotype in Costello syndromeSusan 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... - Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, AustraliaTiong 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... - 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... - Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndromePeter Kannu
Genetic Health Services Victoria, Flemington Road, Parkville, Australia
Am J Med Genet A 140:887-91. 2006.... - Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literatureTiong 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... - Severe fetal brain dysgenesis with focal calcificationR 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... - Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated familiesRavi 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... - Two cases of trisomy 16 mosaicism ascertained postnatallyClaudine 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... - 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... - Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6Jeannie Visootsak
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
J Pediatr 145:819-25. 2004..CONCLUSIONS: Men with BFLS from 2 families with mutations in the PHF6 gene manifested distinctive clinical features and a low risk for maladaptive behaviors... - Molecular characterization of a novel X-linked syndrome involving developmental delay and deafnessMichael 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... - An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutationAngela 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... - Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeKaren 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...