Patil S - Search Results

1

Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.

Schutte BC, Basart AM, Watanabe Y, Laffin JJ, Coppage K, Bjork BC, Daack-Hirsch S, Patil S, Dixon MJ, Murray JC. Schutte BC, et al. Among authors: patil s. Am J Med Genet. 1999 May 21;84(2):145-50. doi: 10.1002/(sici)1096-8628(19990521)84:2<145::aid-ajmg11>3.0.co;2-l. Am J Med Genet. 1999. PMID: 10323740

2

Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene.

Di Paola J, Goldman T, Qian Q, Patil SR, Schutte BC. Di Paola J, et al. Among authors: patil sr. J Thromb Haemost. 2004 Mar;2(3):437-40. doi: 10.1111/j.1538-7933.2004.00626.x. J Thromb Haemost. 2004. PMID: 15009460 Free article.

3

Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome.

Trembath DG, Semina EV, Jones DH, Patil SR, Qian Q, Amendt BA, Russo AF, Murray JC. Trembath DG, et al. Birth Defects Res A Clin Mol Teratol. 2004 Feb;70(2):82-91. doi: 10.1002/bdra.10154. Birth Defects Res A Clin Mol Teratol. 2004. PMID: 14991915

4

Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations.

Wenstrom KD, Muilenburg AC, Patil SR, Hanson JW. Wenstrom KD, et al. Among authors: patil sr. Am J Med Genet. 1991 Apr 1;39(1):102-5. doi: 10.1002/ajmg.1320390122. Am J Med Genet. 1991. PMID: 1867252

5

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: patil sr. Am J Hum Genet. 2001 Feb;68(2):364-72. doi: 10.1086/318183. Epub 2001 Jan 18. Am J Hum Genet. 2001. PMID: 11170889 Free PMC article.

6

Duchenne muscular dystrophy in monozygotic twins: deletion of 5' fragments of the gene.

Ionasescu VV, Searby CC, Ionasescu R, Patil S. Ionasescu VV, et al. Among authors: patil s. Am J Med Genet. 1989 May;33(1):113-6. doi: 10.1002/ajmg.1320330116. Am J Med Genet. 1989. PMID: 2750778

7

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.

Walder RY, Shalev H, Brennan TM, Carmi R, Elbedour K, Scott DA, Hanauer A, Mark AL, Patil S, Stone EM, Sheffield VC. Walder RY, et al. Among authors: patil s. Hum Mol Genet. 1997 Sep;6(9):1491-7. doi: 10.1093/hmg/6.9.1491. Hum Mol Genet. 1997. PMID: 9285786

8

2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster.

Nimmakayalu M, Noble N, Horton VK, Willing M, Copeland S, Sheffield V, Nagy PL, Wassink T, Patil S, Shchelochkov OA. Nimmakayalu M, et al. Among authors: patil s. Am J Med Genet A. 2012 Nov;158A(11):2767-74. doi: 10.1002/ajmg.a.35362. Epub 2012 Sep 28. Am J Med Genet A. 2012. PMID: 23023937

9

Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.

Nimmakayalu M, Horton VK, Darbro B, Patil SR, Alsayouf H, Keppler-Noreuil K, Shchelochkov OA. Nimmakayalu M, et al. Am J Med Genet A. 2013 May;161A(5):1105-9. doi: 10.1002/ajmg.a.35790. Epub 2013 Mar 13. Am J Med Genet A. 2013. PMID: 23495138

10

Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21.

Cousineau AJ, Lauer RM, Pierpont ME, Burns TL, Ardinger RH, Patil SR, Sheffield VC. Cousineau AJ, et al. Among authors: patil sr. Hum Genet. 1994 Feb;93(2):103-8. doi: 10.1007/BF00210591. Hum Genet. 1994. PMID: 8112730

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