Amor DJ - 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. Among authors: amor dj. JAMA Pediatr. 2017 Sep 1;171(9):855-862. doi: 10.1001/jamapediatrics.2017.1755. JAMA Pediatr. 2017. PMID: 28759686 Free PMC article.

2

New case of Cole-Carpenter syndrome.

Amor DJ, Savarirayan R, Schneider AS, Bankier A. Amor DJ, et al. Am J Med Genet. 2000 Jun 5;92(4):273-7. doi: 10.1002/(sici)1096-8628(20000605)92:4<273::aid-ajmg10>3.0.co;2-t. Am J Med Genet. 2000. PMID: 10842295 Review.

3

Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities.

Amor DJ, Savarirayan R. Amor DJ, et al. Am J Med Genet. 2001 Oct 15;103(3):252-4. doi: 10.1002/ajmg.1540. Am J Med Genet. 2001. PMID: 11746001 No abstract available.

4

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.

White SM, Adès LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R. White SM, et al. Clin Dysmorphol. 2003 Apr;12(2):109-13. doi: 10.1097/00019605-200304000-00007. Clin Dysmorphol. 2003. PMID: 12868473

5

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, Bankier A. White SM, et al. Am J Med Genet A. 2004 Jun 1;127A(2):118-27. doi: 10.1002/ajmg.a.20674. Am J Med Genet A. 2004. PMID: 15108197

6

Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3.

Amor DJ, Voullaire L, Bentley K, Savarirayan R, Choo KH. Amor DJ, et al. Am J Med Genet A. 2005 Mar 1;133A(2):151-7. doi: 10.1002/ajmg.a.30527. Am J Med Genet A. 2005. PMID: 15666312

7

Juvenile papillomatosis of the breast associated with neurofibromatosis 1.

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

8

Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice.

Tan TY, Amor DJ. Tan TY, et al. Among authors: amor dj. J Paediatr Child Health. 2006 Sep;42(9):486-90. doi: 10.1111/j.1440-1754.2006.00908.x. J Paediatr Child Health. 2006. PMID: 16925531 Review.

9

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

Tan TY, Amor DJ. Tan TY, et al. Among authors: amor dj. 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

10

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?

Coman DJ, White SM, Amor DJ. Coman DJ, et al. Among authors: amor dj. Am J Med Genet A. 2007 Sep 15;143A(18):2085-8. doi: 10.1002/ajmg.a.31894. Am J Med Genet A. 2007. PMID: 17702017

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