Research Topics
Species | Tiong Y TanSummaryAffiliation: Genetic Health Services Victoria Country: Australia Publications
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Detail Information
Publications
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene locationTiong 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...- Developmental perspectives on copy number abnormalities of the 22q11.2 regionT 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... - 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... - Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practiceTiong 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... - Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature reviewTiong 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... - Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasiaTiong Yang Tan
Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Victoria 3052, Australia
Clin Dysmorphol 15:101-5. 2006..Differential diagnoses are discussed... - 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... - Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong 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... - A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndromeTiong 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... - Biallelic PMS2 mutations and a distinctive childhood cancer syndromeTiong 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... - 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... - Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndromeTiong 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... - Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian 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... - 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... - A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromesTuula Rinne
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
Hum Mol Genet 17:1968-77. 2008....