Patel SB - Search Results

1

A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents.

Gordon D, Haynes C, Johnnidis C, Patel SB, Bowcock AM, Ott J. Gordon D, et al. Among authors: patel sb. Eur J Hum Genet. 2004 Sep;12(9):752-61. doi: 10.1038/sj.ejhg.5201219. Eur J Hum Genet. 2004. PMID: 15162128 Free PMC article.

2

Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities.

Lee MH, Gordon D, Ott J, Lu K, Ose L, Miettinen T, Gylling H, Stalenhoef AF, Pandya A, Hidaka H, Brewer B Jr, Kojima H, Sakuma N, Pegoraro R, Salen G, Patel SB. Lee MH, et al. Among authors: patel sb. Eur J Hum Genet. 2001 May;9(5):375-84. doi: 10.1038/sj.ejhg.5200628. Eur J Hum Genet. 2001. PMID: 11378826 Free PMC article.

3

A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.

Pandit B, Ahn GS, Hazard SE, Gordon D, Patel SB. Pandit B, et al. Among authors: patel sb. BMC Med Genet. 2006 Feb 28;7:13. doi: 10.1186/1471-2350-7-13. BMC Med Genet. 2006. PMID: 16507104 Free PMC article.

4

A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O'Rahilly S, Taylor SI, Patel SB, Bowcock AM. Garg A, et al. Among authors: patel sb. J Clin Endocrinol Metab. 1999 Sep;84(9):3390-4. doi: 10.1210/jcem.84.9.6103. J Clin Endocrinol Metab. 1999. PMID: 10487716

5

High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus.

Lu K, Lee MH, Carpten JD, Sekhon M, Patel SB. Lu K, et al. Among authors: patel sb. Eur J Hum Genet. 2001 May;9(5):364-74. doi: 10.1038/sj.ejhg.5200627. Eur J Hum Genet. 2001. PMID: 11378825 Free PMC article.

6

The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension.

Chen J, Batta A, Zheng S, Fitzgibbon WR, Ullian ME, Yu H, Tso P, Salen G, Patel SB. Chen J, et al. Among authors: patel sb. BMC Genet. 2005 Jul 18;6:40. doi: 10.1186/1471-2156-6-40. BMC Genet. 2005. PMID: 16026620 Free PMC article.

7

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, Ose L, Stalenhoef AF, Mietinnen T, Bjorkhem I, Bruckert E, Pandya A, Brewer HB Jr, Salen G, Dean M, Srivastava A, Patel SB. Lu K, et al. Among authors: patel sb. Am J Hum Genet. 2001 Aug;69(2):278-90. doi: 10.1086/321294. Epub 2001 Jul 9. Am J Hum Genet. 2001. PMID: 11452359 Free PMC article.

8

Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.

Solcà C, Stanga Z, Pandit B, Diem P, Greeve J, Patel SB. Solcà C, et al. Among authors: patel sb. Clin Genet. 2005 Aug;68(2):174-8. doi: 10.1111/j.1399-0004.2005.00472.x. Clin Genet. 2005. PMID: 15996216 Free PMC article.

9

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS. Yu H, et al. Among authors: patel sb. Hum Mol Genet. 2000 May 22;9(9):1385-91. doi: 10.1093/hmg/9.9.1385. Hum Mol Genet. 2000. PMID: 10814720

10

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, Kojima H, Allikmets R, Sakuma N, Pegoraro R, Srivastava AK, Salen G, Dean M, Patel SB. Lee MH, et al. Among authors: patel sb. Nat Genet. 2001 Jan;27(1):79-83. doi: 10.1038/83799. Nat Genet. 2001. PMID: 11138003 Free PMC article.

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