Tiong Y Tan

Summary

Affiliation: Genetic Health Services Victoria
Country: Australia

Publications

  1. ncbi request reprint Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 135:324-7. 2005
  2. ncbi request reprint A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Clin Dysmorphol 16:271-3. 2007
  3. doi request reprint Developmental perspectives on copy number abnormalities of the 22q11.2 region
    T Y Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Flemington Rd, Parkville, VIC 3052, Australia
    Clin Genet 78:201-18. 2010
  4. doi request reprint Phenotypic variability of distal 22q11.2 copy number abnormalities
    Tiong Yang Tan
    Genetic Health Services Victoria, Melbourne, Australia
    Am J Med Genet A 155:1623-33. 2011
  5. ncbi request reprint Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice
    Tiong Y Tan
    Genetic Health Services Victoria, Melbourne, Australia
    J Paediatr Child Health 42:486-90. 2006
  6. ncbi request reprint Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 140:1778-84. 2006
  7. ncbi request reprint Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    Clin Dysmorphol 15:101-5. 2006
  8. ncbi request reprint A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 139:216-20. 2005
  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. doi request reprint Biallelic PMS2 mutations and a distinctive childhood cancer syndrome
    Tiong Yang Tan
    Genetic Health Services Victoria, Murdoch Children s Research Institute, Parkville VIC 3052, F
    J Pediatr Hematol Oncol 30:254-7. 2008

Collaborators

Detail Information

Publications16

  1. ncbi request reprint Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 135:324-7. 2005
    ..3. Due to similarities in the clinical phenotype between diastrophic dysplasia and this condition, testing for DTDST mutation was performed with no mutation detected...
  2. ncbi request reprint A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Clin Dysmorphol 16:271-3. 2007
    ..We propose that this patient represents a more severe form of MURCS, or 'MURCS-plus', which may represent a defect of or insult to mesodermal morphogenesis...
  3. doi request reprint Developmental perspectives on copy number abnormalities of the 22q11.2 region
    T Y Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Flemington Rd, Parkville, VIC 3052, Australia
    Clin Genet 78:201-18. 2010
    ..2 genes and their interactions provide insight into the mechanisms underlying the phenotypic variability of the 22q11.2 syndromes, and suggest a possible common developmental pathway perturbed by copy number abnormalities of this locus...
  4. doi request reprint Phenotypic variability of distal 22q11.2 copy number abnormalities
    Tiong Yang Tan
    Genetic Health Services Victoria, Melbourne, Australia
    Am J Med Genet A 155:1623-33. 2011
    ..Patients with distal chromosome 22q11.2 copy number abnormalities exhibit inter- and intra-familial phenotypic variability, and challenge our ability to draw meaningful genotype-phenotype correlations...
  5. ncbi request reprint Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice
    Tiong Y Tan
    Genetic Health Services Victoria, Melbourne, Australia
    J Paediatr Child Health 42:486-90. 2006
    ..We critically review the evidence for tumour surveillance in Beckwith-Wiedemann syndrome and isolated hemihyperplasia and suggest local practice guidelines...
  6. ncbi request reprint Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 140:1778-84. 2006
    ..We analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, and STAR), and no mutations were found. Other cases of IMAGe syndrome are reviewed...
  7. ncbi request reprint Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    Clin Dysmorphol 15:101-5. 2006
    ..Differential diagnoses are discussed...
  8. ncbi request reprint A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 139:216-20. 2005
    ..We suggest that patients suspected of having Cantu syndrome, especially those with unusual or more severe manifestations be analyzed for distal 1p36 deletions...
  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. doi request reprint Biallelic PMS2 mutations and a distinctive childhood cancer syndrome
    Tiong Yang Tan
    Genetic Health Services Victoria, Murdoch Children s Research Institute, Parkville VIC 3052, F
    J Pediatr Hematol Oncol 30:254-7. 2008
    ..We also review published cases of biallelic mutations in HNPCC-related genes. Early recognition of this familial cancer syndrome is critical, and should prompt investigation for familial HNPCC mutations...
  11. pmc Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome
    Kerry A Miller
    Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    PLoS Genet 9:e1003746. 2013
    ..We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient. This ENU-induced Jeune syndrome model will be useful in delineating the origins of dysmorphology in human ciliopathies. ..
  12. 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...
  13. ncbi request reprint Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia tiong tan org au
    Am J Med Genet A 143:114-8. 2007
    ..This unique combination of manifestations appears to represent a new syndrome with probable autosomal recessive or X-linked recessive inheritance...
  14. ncbi request reprint A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes
    Tuula Rinne
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 17:1968-77. 2008
    ....
  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. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...