Atwal PS - Search Results

1

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS. Blackburn PR, et al. Among authors: atwal ps. Am J Hum Genet. 2018 Apr 5;102(4):696-705. doi: 10.1016/j.ajhg.2018.02.018. Epub 2018 Mar 29. Am J Hum Genet. 2018. PMID: 29606302 Free PMC article.

2

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

Atwal PS, Blease S, Braxton A, Graves J, He W, Person R, Slattery L, Bernstein JA, Hudgins L. Atwal PS, et al. Am J Med Genet A. 2016 Apr;170A(4):891-5. doi: 10.1002/ajmg.a.37491. Epub 2015 Dec 21. Am J Med Genet A. 2016. PMID: 26686323

3

Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.

Atwal PS, Medina CR, Burrage LC, Sutton VR. Atwal PS, et al. J Hum Genet. 2016 Jul;61(7):669-72. doi: 10.1038/jhg.2016.20. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984560 Free PMC article.

4

Holocarboxylase synthetase deficiency pre and post newborn screening.

Donti TR, Blackburn PR, Atwal PS. Donti TR, et al. Among authors: atwal ps. Mol Genet Metab Rep. 2016 Apr 6;7:40-4. doi: 10.1016/j.ymgmr.2016.03.007. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27114915 Free PMC article.

5

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.

Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC. Blackburn PR, et al. Among authors: atwal ps. Hum Mutat. 2016 Oct;37(10):1097-105. doi: 10.1002/humu.23047. Epub 2016 Aug 8. Hum Mutat. 2016. PMID: 27397503 Free PMC article.

6

Early-onset limb-girdle muscular dystrophy-2L in a female athlete.

Blackburn PR, Selcen D, Jackson JL, Guthrie KJ, Cousin MA, Boczek NJ, Clift KE, Klee EW, Dimberg EL, Atwal PS. Blackburn PR, et al. Among authors: atwal ps. Muscle Nerve. 2017 May;55(5):E19-E21. doi: 10.1002/mus.25471. Epub 2017 Feb 23. Muscle Nerve. 2017. PMID: 27862037 No abstract available.

7

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.

8

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.

9

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.

Clift K, Guthrie K, Klee EW, Boczek N, Cousin M, Blackburn P, Atwal P. Clift K, et al. Prion. 2016 Nov;10(6):502-506. doi: 10.1080/19336896.2016.1254858. Prion. 2016. PMID: 27929804 Free PMC article.

10

Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology.

Gass J, Atwal HK, Atwal PS. Gass J, et al. Among authors: atwal hk, atwal ps. Mol Genet Metab Rep. 2017 Jan 11;10:51. doi: 10.1016/j.ymgmr.2017.01.001. eCollection 2017 Mar. Mol Genet Metab Rep. 2017. PMID: 28116243 Free PMC article. No abstract available.

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