Atwal PS - Search Results

1

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.

Richter JE Jr, Vadlamudi C, Macklin SK, Samreen A, Helmi H, Broderick D, Mohammad AN, Hines SL, VanGerpen JA, Atwal PS, Caulfield TR. Richter JE Jr, et al. Among authors: atwal ps. Case Rep Genet. 2020 Jan 25;2020:3256539. doi: 10.1155/2020/3256539. eCollection 2020. Case Rep Genet. 2020. PMID: 32047678 Free PMC article.

2

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS).

Sunde K, Blackburn PR, Cheema A, Gass J, Jackson J, Macklin S, Atwal PS. Sunde K, et al. Among authors: atwal ps. Mol Genet Metab Rep. 2016 Nov 18;9:94-97. doi: 10.1016/j.ymgmr.2016.11.002. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27896131 Free PMC article.

3

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

Blackburn PR, Zimmermann MT, Gass JM, Harris KG, Cousin MA, Boczek NJ, Ross OA, Klee EW, Brazis PW, Van Gerpen JA, Atwal PS. Blackburn PR, et al. Among authors: atwal ps. BMC Med Genet. 2016 Dec 5;17(1):93. doi: 10.1186/s12881-016-0354-7. BMC Med Genet. 2016. PMID: 27919237 Free PMC article.

4

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.

Zimmermann MT, Urrutia RA, Blackburn PR, Cousin MA, Boczek NJ, Klee EW, Macmurdo C, Atwal PS. Zimmermann MT, et al. Among authors: atwal ps. Case Rep Genet. 2017;2017:7263780. doi: 10.1155/2017/7263780. Epub 2017 Jan 9. Case Rep Genet. 2017. PMID: 28163941 Free PMC article.

5

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

Gass J, Tatro M, Blackburn P, Hines S, Atwal PS. Gass J, et al. Among authors: atwal ps. Clin Case Rep. 2017 Jan 4;5(2):104-107. doi: 10.1002/ccr3.793. eCollection 2017 Feb. Clin Case Rep. 2017. PMID: 28174632 Free PMC article.

6

A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.

Gass J, Jackson J, Macklin S, Blackburn P, Hines S, Atwal PS. Gass J, et al. Among authors: atwal ps. Fam Cancer. 2017 Oct;16(4):551-553. doi: 10.1007/s10689-017-9982-0. Fam Cancer. 2017. PMID: 28374160

7

The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations.

Macklin S, Gass J, Mitri G, Atwal PS, Hines S. Macklin S, et al. Among authors: atwal ps. Fam Cancer. 2018 Jan;17(1):167-173. doi: 10.1007/s10689-017-0007-9. Fam Cancer. 2018. PMID: 28643015 Review.

8

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.

Kaiwar C, Macklin SK, Gass JM, Jackson J, Klee EW, Hines SL, Stauffer JA, Atwal PS. Kaiwar C, et al. Among authors: atwal ps. Hered Cancer Clin Pract. 2017 Jul 21;15:10. doi: 10.1186/s13053-017-0070-0. eCollection 2017. Hered Cancer Clin Pract. 2017. PMID: 28736585 Free PMC article.

9

Maple syrup urine disease: mechanisms and management.

Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Blackburn PR, et al. Among authors: atwal hk, atwal ps. Appl Clin Genet. 2017 Sep 6;10:57-66. doi: 10.2147/TACG.S125962. eCollection 2017. Appl Clin Genet. 2017. PMID: 28919799 Free PMC article. Review.

10

Expanded phenotype in a patient with spastic paraplegia 7.

Gass J, Blackburn PR, Jackson J, Macklin S, van Gerpen J, Atwal PS. Gass J, et al. Among authors: atwal ps. Clin Case Rep. 2017 Aug 24;5(10):1620-1622. doi: 10.1002/ccr3.1109. eCollection 2017 Oct. Clin Case Rep. 2017. PMID: 29026558 Free PMC article.

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