Savarirayan R - Search Results

1

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.

Crawford A, Moore L, Bennett G, Savarirayan R, Manton N, Khong Y, Barnett CP, Haan E. Crawford A, et al. Among authors: savarirayan r. Am J Med Genet A. 2016 Nov;170(11):2960-2964. doi: 10.1002/ajmg.a.37856. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27481052

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

An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement.

Robertson SP, Dickens R, Savarirayan R, Rogers JG. Robertson SP, et al. Among authors: savarirayan r. Am J Med Genet. 1999 Mar 5;83(1):17-22. Am J Med Genet. 1999. PMID: 10076880 Review.

4

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.

5

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

6

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

7

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. Among authors: savarirayan r. 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

8

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. Among authors: savarirayan r. 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

9

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. Among authors: savarirayan r. 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

10

Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history.

Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan R. Kannu P, et al. Among authors: savarirayan r. Am J Med Genet A. 2007 Nov 1;143A(21):2512-22. doi: 10.1002/ajmg.a.31941. Am J Med Genet A. 2007. PMID: 17879966

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