Savarirayan R - Search Results

1

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.

2

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.

3

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.

4

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

5

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

6

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.

7

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

8

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.

9

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.

Robertson SP, Shears DJ, Oei P, Winter RM, Scambler PJ, Aftimos S, Savarirayan R. Robertson SP, et al. Among authors: savarirayan r. J Med Genet. 2000 Dec;37(12):959-64. doi: 10.1136/jmg.37.12.959. J Med Genet. 2000. PMID: 11186941 Free PMC article. No abstract available.

10

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. Gedeon AK, et al. Among authors: savarirayan r. Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349230 Free PMC article.

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