Surti U - Search Results

1

Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

McPherson EW, Laneri G, Clemens MM, Kochmar SJ, Surti U. McPherson EW, et al. Among authors: surti u. Am J Med Genet. 1997 Sep 5;71(4):430-3. doi: 10.1002/(sici)1096-8628(19970905)71:4<430::aid-ajmg11>3.0.co;2-h. Am J Med Genet. 1997. PMID: 9286450

2

Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.

Hu J, McPherson E, Surti U, Hasegawa SL, Gunawardena S, Gollin SM. Hu J, et al. Among authors: surti u. Am J Med Genet. 2002 Nov 15;113(1):82-8. doi: 10.1002/ajmg.10708. Am J Med Genet. 2002. PMID: 12400070 Review.

3

Three cases of tetrasomy 9p.

Dhandha S, Hogge WA, Surti U, McPherson E. Dhandha S, et al. Among authors: surti u. Am J Med Genet. 2002 Dec 15;113(4):375-80. doi: 10.1002/ajmg.b.10826. Am J Med Genet. 2002. PMID: 12457411 Review.

4

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features.

Estop AM, Mowery-Rushton PA, Cieply KM, Kochmar SJ, Sherer CR, Clemens M, Surti U, McPherson E. Estop AM, et al. Among authors: surti u. J Med Genet. 1995 Oct;32(10):819-22. doi: 10.1136/jmg.32.10.819. J Med Genet. 1995. PMID: 8558564 Free PMC article.

5

Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.

Clemens M, Martsolf JT, Rogers JG, Mowery-Rushton P, Surti U, McPherson E. Clemens M, et al. Among authors: surti u. Am J Med Genet. 1996 Dec 2;66(1):95-100. doi: 10.1002/(SICI)1096-8628(19961202)66:1<95::AID-AJMG26>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8957524

6

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.

Hu J, Sathanoori M, Kochmar S, Madan-Khetarpal S, McGuire M, Surti U. Hu J, et al. Among authors: surti u. Am J Med Genet A. 2013 Jan;161A(1):179-84. doi: 10.1002/ajmg.a.35658. Epub 2012 Dec 7. Am J Med Genet A. 2013. PMID: 23225375

7

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.

Hu J, Sathanoori M, Kochmar S, Azage M, Mann S, Madan-Khetarpal S, Goldstein A, Surti U. Hu J, et al. Among authors: surti u. Am J Med Genet A. 2015 Aug;167A(8):1921-6. doi: 10.1002/ajmg.a.37110. Epub 2015 Apr 10. Am J Med Genet A. 2015. PMID: 25866352

8

Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.

Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A. Bregand-White J, et al. Among authors: surti u. Am J Med Genet A. 2016 Sep;170(9):2365-71. doi: 10.1002/ajmg.a.37793. Epub 2016 Jun 10. Am J Med Genet A. 2016. PMID: 27286879 Review.

9

Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.

Putra M, Surti U, Hu J, Steele D, Clemens M, Saller DN, Yatsenko SA, Rajkovic A. Putra M, et al. Among authors: surti u. Am J Med Genet A. 2017 Dec;173(12):3153-3157. doi: 10.1002/ajmg.a.38497. Epub 2017 Oct 19. Am J Med Genet A. 2017. PMID: 29048729

10

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.

Hu J, Ou Z, Surti U, Kochmar S, Hoffner L, Madan-Khetarpal S, Arnold GL, Walsh L, Acquaro R, Sebastian J, Yatsenko SA. Hu J, et al. Among authors: surti u. Am J Med Genet A. 2020 Apr;182(4):813-822. doi: 10.1002/ajmg.a.61482. Epub 2020 Jan 8. Am J Med Genet A. 2020. PMID: 31913574 Review.

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