Savarirayan R - Search Results

1

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.

Stark Z, Ryan MM, Bruno DL, Burgess T, Savarirayan R. Stark Z, et al. Among authors: savarirayan r. Am J Med Genet A. 2010 Sep;152A(9):2342-5. doi: 10.1002/ajmg.a.33590. Am J Med Genet A. 2010. PMID: 20684011

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

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

4

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

5

Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti.

Hayes IM, Varigos G, Upjohn EJ, Orchard DC, Penny DJ, Savarirayan R. Hayes IM, et al. Among authors: savarirayan r. Am J Med Genet A. 2005 Jun 15;135(3):302-3. doi: 10.1002/ajmg.a.30698. Am J Med Genet A. 2005. PMID: 15884011 Review.

6

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

7

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

8

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. Among authors: savarirayan r. 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

9

Osteopetrosis.

Stark Z, Savarirayan R. Stark Z, et al. Among authors: savarirayan r. Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. Orphanet J Rare Dis. 2009. PMID: 19232111 Free PMC article. Review.

10

Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.

Yeung A, Amor D, Savarirayan R. Yeung A, et al. Among authors: savarirayan r. Am J Med Genet A. 2009 Feb 15;149A(4):767-9. doi: 10.1002/ajmg.a.32743. Am J Med Genet A. 2009. PMID: 19291776

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