Patil SR - Search Results

1

Systematic screening for subtelomeric anomalies in a clinical sample of autism.

Wassink TH, Losh M, Piven J, Sheffield VC, Ashley E, Westin ER, Patil SR. Wassink TH, et al. Among authors: patil sr. J Autism Dev Disord. 2007 Apr;37(4):703-8. doi: 10.1007/s10803-006-0196-9. J Autism Dev Disord. 2007. PMID: 17004120

2

Chromosomal abnormalities in a clinic sample of individuals with autistic disorder.

Wassink TH, Piven J, Patil SR. Wassink TH, et al. Among authors: patil sr. Psychiatr Genet. 2001 Jun;11(2):57-63. doi: 10.1097/00041444-200106000-00001. Psychiatr Genet. 2001. PMID: 11525418 Review.

3

Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder.

Baker P, Piven J, Schwartz S, Patil S. Baker P, et al. J Autism Dev Disord. 1994 Aug;24(4):529-35. doi: 10.1007/BF02172133. J Autism Dev Disord. 1994. PMID: 7961335 No abstract available.

4

Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism.

Meyer KJ, Axelsen MS, Sheffield VC, Patil SR, Wassink TH. Meyer KJ, et al. Among authors: patil sr. Psychiatr Genet. 2012 Jun;22(3):137-40. doi: 10.1097/YPG.0b013e32834dc3f5. Psychiatr Genet. 2012. PMID: 22157634 Free PMC article.

5

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. 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

6

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.

Nimmakayalu M, Major H, Sheffield V, Solomon DH, Smith RJ, Patil SR, Shchelochkov OA. Nimmakayalu M, et al. Among authors: patil sr. Am J Med Genet A. 2011 Feb;155A(2):418-23. doi: 10.1002/ajmg.a.33827. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271665

7

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

Sheffield VC, Pierpont ME, Nishimura D, Beck JS, Burns TL, Berg MA, Stone EM, Patil SR, Lauer RM. Sheffield VC, et al. Among authors: patil sr. Hum Mol Genet. 1997 Jan;6(1):117-21. doi: 10.1093/hmg/6.1.117. Hum Mol Genet. 1997. PMID: 9002679

8

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: patil sr. Nat Genet. 1998 Jun;19(2):140-7. doi: 10.1038/493. Nat Genet. 1998. PMID: 9620769

9

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.

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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