Surti U - Search Results

1

Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.

Peterson JF, Hartman J, Ghaloul-Gonzalez L, Surti U, Hu J. Peterson JF, et al. Among authors: surti u. Am J Med Genet A. 2014 Mar;164A(3):810-4. doi: 10.1002/ajmg.a.36359. Epub 2014 Jan 17. Am J Med Genet A. 2014. PMID: 24443387

2

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

Liao J, DeWard SJ, Madan-Khetarpal S, Surti U, Hu J. Liao J, et al. Among authors: surti u. Am J Med Genet A. 2011 Nov;155A(11):2795-800. doi: 10.1002/ajmg.a.34237. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990074

3

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

4

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA. Peterson JF, et al. Among authors: surti u. Am J Med Genet A. 2014 Feb;164A(2):364-9. doi: 10.1002/ajmg.a.36238. Am J Med Genet A. 2014. PMID: 24592505

5

Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.

Beck M, Peterson JF, McConnell J, McGuire M, Asato M, Losee JE, Surti U, Madan-Khetarpal S, Rajkovic A, Yatsenko SA. Beck M, et al. Among authors: surti u. Am J Med Genet A. 2015 May;167A(5):1047-53. doi: 10.1002/ajmg.a.36839. Epub 2015 Mar 21. Am J Med Genet A. 2015. PMID: 25810350

6

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

7

Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene.

Peterson JF, Thakur P, Peffer A, Kolthoff M, Kochmar SJ, Surti U. Peterson JF, et al. Among authors: surti u. J Assoc Genet Technol. 2014;40(1):16-21. J Assoc Genet Technol. 2014. PMID: 26030165

8

Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing?

Peterson JF, Aggarwal N, Smith CA, Gollin SM, Surti U, Rajkovic A, Swerdlow SH, Yatsenko SA. Peterson JF, et al. Among authors: surti u. Oncotarget. 2015 Aug 7;6(22):18845-62. doi: 10.18632/oncotarget.4586. Oncotarget. 2015. PMID: 26299921 Free PMC article.

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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