Savarirayan R - Search Results

1

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor DJ, Savarirayan R, McGillivray G, Downie L, Ekert PG, Theda C, James PA, Yaplito-Lee J, Ryan MM, Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack A, Sadedin S, Georgeson P, Anderson C, Thorne N, Melbourne Genomics Health Alliance, Gaff C, White SM. Stark Z, et al. Among authors: savarirayan r. Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3. Genet Med. 2016. PMID: 26938784 Free article.

2

Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.

Freddi S, Savarirayan R, Bateman JF. Freddi S, et al. Among authors: savarirayan r. Am J Med Genet. 2000 Feb 28;90(5):398-406. Am J Med Genet. 2000. PMID: 10706362

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

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML. Savarirayan R, et al. Am J Med Genet A. 2003 Mar 1;117A(2):136-42. doi: 10.1002/ajmg.a.10924. Am J Med Genet A. 2003. PMID: 12567410

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

Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia.

James PA, Shaw J, du Sart D, Craig E, Bateman JF, Savarirayan R. James PA, et al. Among authors: savarirayan r. Prenat Diagn. 2003 Oct;23(10):861-3. doi: 10.1002/pd.692. Prenat Diagn. 2003. PMID: 14558035 No abstract available.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

221 results

Search Page

Filters