Tan TY - Search Results

1

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM. Tan TY, et al. JAMA Pediatr. 2017 Sep 1;171(9):855-862. doi: 10.1001/jamapediatrics.2017.1755. JAMA Pediatr. 2017. PMID: 28759686 Free PMC article.

2

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.

Tan TY, McGillivray G, Kornman L, Fink AM, Superti-Furga A, Bonafé L, Francis DI, Savarirayan R. Tan TY, et al. Am J Med Genet A. 2005 Jun 15;135(3):324-7. doi: 10.1002/ajmg.a.30754. Am J Med Genet A. 2005. PMID: 15887278

3

Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.

Tan TY, McGillivray G, Goergen SK, White SM. Tan TY, et al. Am J Med Genet A. 2005 Nov 1;138(4):369-73. doi: 10.1002/ajmg.a.30967. Am J Med Genet A. 2005. PMID: 16158443 Review.

4

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.

Tan TY, Bankier A, Slater HR, Northrop EL, Zacharin M, Savarirayan R. Tan TY, et al. Am J Med Genet A. 2005 Dec 15;139(3):216-20. doi: 10.1002/ajmg.a.31013. Am J Med Genet A. 2005. PMID: 16278903

5

Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia.

Tan TY, Nazaretian S, McGillivray G, Simpson I, Bankier A. Tan TY, et al. Clin Dysmorphol. 2006 Apr;15(2):101-5. doi: 10.1097/01.mcd.0000198928.86458.81. Clin Dysmorphol. 2006. PMID: 16531737

6

Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.

Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R. Tan TY, et al. Am J Med Genet A. 2006 Aug 15;140(16):1778-84. doi: 10.1002/ajmg.a.31365. Am J Med Genet A. 2006. PMID: 16835919

7

Juvenile papillomatosis of the breast associated with neurofibromatosis 1.

Tan TY, Amor DJ, Chow CW. Tan TY, et al. Pediatr Blood Cancer. 2007 Sep;49(3):363-4. doi: 10.1002/pbc.20956. Pediatr Blood Cancer. 2007. PMID: 16883593 No abstract available.

8

Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome.

Tan TY, Amor DJ. Tan TY, et al. Am J Med Genet A. 2007 Jan 15;143A(2):114-8. doi: 10.1002/ajmg.a.31548. Am J Med Genet A. 2007. PMID: 17163533

9

A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?

Tan TY, Whitelaw C, Savarirayan R. Tan TY, et al. Clin Dysmorphol. 2007 Oct;16(4):271-3. doi: 10.1097/MCD.0b013e32827425d2. Clin Dysmorphol. 2007. PMID: 17786121

10

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223

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