Savarirayan R - Search Results

1

Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome.

Savarirayan R, Thompson EM, Abbott KJ, Moore MH. Savarirayan R, et al. Am J Med Genet. 1999 Sep 3;86(1):15-9. doi: 10.1002/(sici)1096-8628(19990903)86:1<15::aid-ajmg4>3.0.co;2-i. Am J Med Genet. 1999. PMID: 10440823

2

Craniosynostosis in Roberts syndrome.

Savarirayan R, Thompson EM. Savarirayan R, et al. Clin Dysmorphol. 1997 Apr;6(2):181-2. Clin Dysmorphol. 1997. PMID: 9134301 No abstract available.

3

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

Savarirayan R, Bankier A. Savarirayan R, et al. J Med Genet. 1998 Jul;35(7):597-9. doi: 10.1136/jmg.35.7.597. J Med Genet. 1998. PMID: 9678706 Free PMC article.

4

Baller-Gerold syndrome associated with congenital portal venous malformation.

Savarirayan R, Tomlinson P, Thompson E. Savarirayan R, et al. J Med Genet. 1998 Sep;35(9):767-9. doi: 10.1136/jmg.35.9.767. J Med Genet. 1998. PMID: 9733037 Free PMC article. Review.

5

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.

6

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

7

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.

8

New mesomelic dysplasia with absent fibulae and triangular tibiae.

Savarirayan R, Cormier-Daire V, Curry CJ, Nashelsky MB, Rappaport V, Rimoin DL, Lachman RS. Savarirayan R, et al. Am J Med Genet. 2000 Sep 4;94(1):59-63. doi: 10.1002/1096-8628(20000904)94:1<59::aid-ajmg12>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10982484

9

Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.

Savarirayan R, Cormier-Daire V, Unger S, Lachman RS, Roughley PJ, Wagner SF, Rimoin DL, Wilcox WR. Savarirayan R, et al. Am J Med Genet. 2000 Nov 27;95(3):193-200. Am J Med Genet. 2000. PMID: 11102922

10

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

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