Gonzales PR - Search Results

1

Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA. Alvarado DM, et al. Among authors: gonzales pr. Am J Hum Genet. 2010 Jul 9;87(1):154-60. doi: 10.1016/j.ajhg.2010.06.010. Am J Hum Genet. 2010. PMID: 20598276 Free PMC article.

2

Comprehensive validation of array comparative genomic hybridization platforms: how much is enough?

Thorland EC, Gonzales PR, Gliem TJ, Wiktor AE, Ketterling RP. Thorland EC, et al. Among authors: gonzales pr. Genet Med. 2007 Sep;9(9):632-41. doi: 10.1097/gim.0b013e31814629fc. Genet Med. 2007. PMID: 17873652 Review.

3

A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.

Upadia J, Gonzales PR, Atkinson TP, Schroeder HW, Robin NH, Rudy NL, Mikhail FM. Upadia J, et al. Among authors: gonzales pr. Am J Med Genet A. 2018 Dec;176(12):2791-2797. doi: 10.1002/ajmg.a.40492. Epub 2018 Sep 14. Am J Med Genet A. 2018. PMID: 30216695 Review.

4

Overview of Clinical Cytogenetics.

Gonzales PR, Carroll AJ, Korf BR. Gonzales PR, et al. Curr Protoc Hum Genet. 2016 Apr 1;89:8.1.1-8.1.13. doi: 10.1002/0471142905.hg0801s89. Curr Protoc Hum Genet. 2016. PMID: 27037488

5

A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.

Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE. Klein RD, et al. Among authors: gonzales pr. Clin Chem. 2006 Oct;52(10):1864-70. doi: 10.1373/clinchem.2006.072397. Epub 2006 Aug 3. Clin Chem. 2006. PMID: 16887896

6

Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies.

Shearer BM, Thorland EC, Gonzales PR, Ketterling RP. Shearer BM, et al. Among authors: gonzales pr. Am J Med Genet A. 2007 Oct 15;143A(20):2357-70. doi: 10.1002/ajmg.a.31954. Am J Med Genet A. 2007. PMID: 17853469

7

Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.

Upadia J, Gonzales PR, Robin NH. Upadia J, et al. Among authors: gonzales pr. Am J Med Genet A. 2018 Jun;176(6):1423-1426. doi: 10.1002/ajmg.a.38700. Epub 2018 Apr 16. Am J Med Genet A. 2018. PMID: 29663647

8

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, Rudy NL, Robin NH, Thorland EC, On Behalf Of The Acmg Laboratory Quality Assurance Committee. Gonzales PR, et al. Genet Med. 2022 Feb;24(2):255-261. doi: 10.1016/j.gim.2021.10.004. Epub 2021 Dec 3. Genet Med. 2022. PMID: 34906464 Free article.

9

Diagnostic and Prognostic Utility of Fluorescence In situ Hybridization (FISH) Analysis in Acute Myeloid Leukemia.

Gonzales PR, Mikhail FM. Gonzales PR, et al. Curr Hematol Malig Rep. 2017 Dec;12(6):568-573. doi: 10.1007/s11899-017-0426-6. Curr Hematol Malig Rep. 2017. PMID: 29064023 Review.

10

Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.

Wang X, Kallionpää RA, Gonzales PR, Chitale DA, Tousignant RN, Crowley JP, Chen Z, Yoder SJ, Blakeley JO, Acosta MT, Korf BR, Messiaen LM, Tainsky MA. Wang X, et al. Among authors: gonzales pr. Cancer Prev Res (Phila). 2018 Oct;11(10):655-664. doi: 10.1158/1940-6207.CAPR-18-0072. Epub 2018 Aug 13. Cancer Prev Res (Phila). 2018. PMID: 30104415 Free PMC article.

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