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Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
Hum Mutat. 2015 Apr;36(4):439-42. doi: 10.1002/humu.22759. Epub 2015 Mar 16.
Hum Mutat. 2015.
PMID: 25645515
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.
Pimienta AL, Wilcox WR, Reinstein E.
Pimienta AL, et al.
Am J Med Genet A. 2013 Dec;161A(12):3126-9. doi: 10.1002/ajmg.a.36161. Epub 2013 Aug 16.
Am J Med Genet A. 2013.
PMID: 24039088
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Echocardiographic findings in patients with spontaneous CSF leak.
Pimienta AL, Rimoin DL, Pariani M, Schievink WI, Reinstein E.
Pimienta AL, et al.
J Neurol. 2014 Oct;261(10):1957-60. doi: 10.1007/s00415-014-7438-0. Epub 2014 Jul 25.
J Neurol. 2014.
PMID: 25059392
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Atrophic skin patches with abnormal elastic fibers as a presenting sign of the MASS phenotype associated with mutation in the fibrillin 1 gene.
Bergman R, Nevet MJ, Gescheidt-Shoshany H, Pimienta AL, Reinstein E.
Bergman R, et al. Among authors: pimienta al.
JAMA Dermatol. 2014 Aug;150(8):885-9. doi: 10.1001/jamadermatol.2013.10036.
JAMA Dermatol. 2014.
PMID: 24740214
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Paraneoplastic Phenomena in a Patient With Locally Destructive and Metastatic Renal Cell Carcinoma.
Pimienta AL, Billings TA, Fish RG.
Pimienta AL, et al.
J Prim Care Community Health. 2018 Jan-Dec;9:2150132718799023. doi: 10.1177/2150132718799023.
J Prim Care Community Health. 2018.
PMID: 30226091
Free PMC article.
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The Case for Medical Chaperones.
Pimienta AL, Giblon R.
Pimienta AL, et al.
Fam Pract Manag. 2018 Sep/Oct;25(5):6-8.
Fam Pract Manag. 2018.
PMID: 30221918
Free article.
No abstract available.
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