Savarirayan R - Search Results

1

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T. Lee E, et al. Among authors: savarirayan r. Genet Med. 2018 Sep;20(9):1061-1068. doi: 10.1038/gim.2017.214. Epub 2017 Dec 7. Genet Med. 2018. PMID: 29215649 Free article.

2

Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.

Savarirayan R, Nance J, Morris L, Haan E, Couper R. Savarirayan R, et al. Clin Genet. 1997 Oct;52(4):199-205. doi: 10.1111/j.1399-0004.1997.tb02547.x. Clin Genet. 1997. PMID: 9383023

3

New case of Cole-Carpenter syndrome.

Amor DJ, Savarirayan R, Schneider AS, Bankier A. Amor DJ, et al. Among authors: savarirayan r. 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.

4

Autosomal dominant inheritance of scapuloiliac dysostosis.

Amor DJ, Savarirayan R, Bankier A, Jensen F, Hauser SP. Amor DJ, et al. Among authors: savarirayan r. Am J Med Genet. 2000 Dec 18;95(5):507-9. Am J Med Genet. 2000. PMID: 11146474 No abstract available.

5

Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities.

Amor DJ, Savarirayan R. Amor DJ, et al. Among authors: savarirayan r. 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.

6

Familial digital arthropathy-brachydactyly.

Amor DJ, Tudball C, Gardner RJ, Lamandé SR, Bateman JF, Savarirayan R. Amor DJ, et al. Among authors: savarirayan r. Am J Med Genet. 2002 Mar 15;108(3):235-40. doi: 10.1002/ajmg.10269. Am J Med Genet. 2002. PMID: 11891693

7

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.

Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA. Hyland VJ, et al. Among authors: savarirayan r. Am J Med Genet A. 2003 Jul 15;120A(2):157-68. doi: 10.1002/ajmg.a.20012. Am J Med Genet A. 2003. PMID: 12833394

8

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. Among authors: savarirayan r. Clin Dysmorphol. 2003 Apr;12(2):109-13. doi: 10.1097/00019605-200304000-00007. Clin Dysmorphol. 2003. PMID: 12868473

9

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. Among authors: savarirayan r. 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

10

Primary trabeculodysgenesis in association with neonatal Marfan syndrome.

Whitelaw CM, Anwar S, Adès LC, Gole GA, Elder JE, Savarirayan R. Whitelaw CM, et al. Among authors: savarirayan r. Am J Med Genet A. 2004 Aug 1;128A(4):418-21. doi: 10.1002/ajmg.a.30139. Am J Med Genet A. 2004. PMID: 15264290

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