Patil S - Search Results

1

Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16.

Schmidt N, Van Dyke DC, Keppler-Noreuil K, Muilenburg A, Patil S, Kanis AB. Schmidt N, et al. Among authors: patil s. Dev Med Child Neurol. 2001 Feb;43(2):130-2. doi: 10.1017/s0012162201000238. Dev Med Child Neurol. 2001. PMID: 11221902 Free article.

2

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.

Keppler-Noreuil KM, Welch JL, Major HJ, Qiau Q, Jordan DK, Patil SR. Keppler-Noreuil KM, et al. Dev Med Child Neurol. 2002 Jan;44(1):64-7. doi: 10.1017/s0012162201001670. Dev Med Child Neurol. 2002. PMID: 11811653 Free article.

3

Autistic disorder associated with an iso-dicentric Y chromosome.

Blackman JA, Selzer SC, Patil S, Van Dyke DC. Blackman JA, et al. Among authors: patil s. Dev Med Child Neurol. 1991 Feb;33(2):162-6. doi: 10.1111/j.1469-8749.1991.tb05096.x. Dev Med Child Neurol. 1991. PMID: 2015985

4

Behavioral management of a long-term survivor with tetrasomy 18p.

Swingle HM, Ringdahl J, Mraz R, Patil S, Keppler-Noreuil K. Swingle HM, et al. Among authors: patil s. Am J Med Genet A. 2006 Feb 1;140(3):276-80. doi: 10.1002/ajmg.a.31058. Am J Med Genet A. 2006. PMID: 16411237

5

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

6

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

7

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.

8

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.

Cyr AB, Nimmakayalu M, Longmuir SQ, Patil SR, Keppler-Noreuil KM, Shchelochkov OA. Cyr AB, et al. Am J Med Genet A. 2011 Sep;155A(9):2224-8. doi: 10.1002/ajmg.a.34120. Epub 2011 Aug 3. Am J Med Genet A. 2011. PMID: 21815251

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

Clinical management issues in males with sex chromosomal mosaicism and discordant phenotype/sex chromosomal patterns.

Van Dyke DC, Hanson JW, Moore JW, Patil SR, Hawtrey CE, Hansen JR. Van Dyke DC, et al. Among authors: patil sr. Clin Pediatr (Phila). 1991 Jan;30(1):15-21. doi: 10.1177/000992289103000103. Clin Pediatr (Phila). 1991. PMID: 1995198

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