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4,197 results

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Page 1
AJKD Atlas of Renal Pathology: Pierson Syndrome.
Lusco MA, Najafian B, Alpers CE, Fogo AB. Lusco MA, et al. Am J Kidney Dis. 2018 Apr;71(4):e3-e4. doi: 10.1053/j.ajkd.2018.02.001. Am J Kidney Dis. 2018. PMID: 29579420 Review. No abstract available.
A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.
Gooley K, Williams P, Mack H, Zhu V, Langsford D, Pianta T, Barit D, Mahmood K, Savige J. Gooley K, et al. Ophthalmic Genet. 2023 Oct;44(5):417-422. doi: 10.1080/13816810.2023.2240881. Epub 2023 Aug 3. Ophthalmic Genet. 2023. PMID: 37537573 Free article. Review.
BACKGROUND: Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in LAMB2 and COL4A5, respectively, and both affect basement membranes in the kidney and the eye. ...CONCLUSION: Our patient had a later onset form of Pierson syndrome or "FSGS …
BACKGROUND: Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in LAMB2 and COL4A5, respectively, and both …
[Michel Pierson's syndrome].
Cochat P, Zenker M. Cochat P, et al. Arch Pediatr. 2011 Nov;18(11):1127-9. doi: 10.1016/j.arcped.2011.08.002. Epub 2011 Sep 7. Arch Pediatr. 2011. PMID: 21903364 French. No abstract available.
Case of Pierson syndrome presented with hyphema,vitrous haemorrhage and subsequent neovascular glaucoma.
ALKhamees A, ALShemmari M. ALKhamees A, et al. BMC Ophthalmol. 2023 Feb 24;23(1):76. doi: 10.1186/s12886-023-02826-3. BMC Ophthalmol. 2023. PMID: 36829142 Free PMC article.
BACKGROUND: Pierson syndrome is a rare autosomal recessive disorder that causes congenital nephrotic syndrome, neurodevelopmental abnormalities, and several ocular signs. ...First described by Pierson et al., the ocular signs of Pierson syndrome include micro …
BACKGROUND: Pierson syndrome is a rare autosomal recessive disorder that causes congenital nephrotic syndrome, neurodevelopmental abn …
Pierson Syndrome Associated with Hypothyroidism and Septic Shock.
Ejaz A, Ali MB, Siddiqui F, Ali MB, Jamal A. Ejaz A, et al. Sultan Qaboos Univ Med J. 2020 Nov;20(4):e385-e389. doi: 10.18295/squmj.2020.20.04.017. Epub 2020 Dec 21. Sultan Qaboos Univ Med J. 2020. PMID: 33414946 Free PMC article.
Pierson syndrome is caused by mutations in the laminin beta2 gene causing absent beta2 laminin, which is a normal component of the basement membranes of the mature glomerulus, structures in the anterior eye and neuromuscular junctions. ...
Pierson syndrome is caused by mutations in the laminin beta2 gene causing absent beta2 laminin, which is a normal component of the ba …
Posterior Segment Characterization in Children With Pierson Syndrome.
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM. AlTaisan A, et al. Ophthalmic Surg Lasers Imaging Retina. 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. Ophthalmic Surg Lasers Imaging Retina. 2020. PMID: 33231694
BACKGROUND AND OBJECTIVE: Pierson syndrome is a rare genetic disease defined by congenital nephrotic syndrome in association with microcoria. The authors aim to describe the posterior segment and retinal features in Pierson syndrome. PATIENTS AND METHODS: A retrospe …
BACKGROUND AND OBJECTIVE: Pierson syndrome is a rare genetic disease defined by congenital nephrotic syndrome in association with mic …
A new mutation associated with Pierson syndrome.
Kulali F, Calkavur S, Basaran C, Serdaroglu E, Kose M, Saka Guvenc M. Kulali F, et al. Arch Argent Pediatr. 2020 Jun;118(3):e288-e291. doi: 10.5546/aap.2020.eng.e288. Arch Argent Pediatr. 2020. PMID: 32470267 Free article. English, Spanish.
Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. ...We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolys …
Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. ...We report a novel homozygous mutation …
Silicosis.
Pierson PH. Pierson PH. Cal West Med. 1936 Dec;45(6):477-82. Cal West Med. 1936. PMID: 18743887 Free PMC article. No abstract available.
Ophthalmological aspects of Pierson syndrome.
Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I. Bredrup C, et al. Am J Ophthalmol. 2008 Oct;146(4):602-611. doi: 10.1016/j.ajo.2008.05.039. Epub 2008 Jul 31. Am J Ophthalmol. 2008. PMID: 18672223
PURPOSE: To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition. ...CONCLUSIONS: Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizin …
PURPOSE: To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic feature …
Kidney transplantation in a child with Pierson syndrome.
Guler S, Cimen S, Acott P, Whelan K, Molinari M. Guler S, et al. Pediatr Transplant. 2017 Dec;21(8). doi: 10.1111/petr.13076. Epub 2017 Nov 1. Pediatr Transplant. 2017. PMID: 29094445
Mutation of the LAMB2 gene is associated with Pierson syndrome, which is an autosomal recessive disorder characterized by congenital nephrotic syndrome and ocular abnormalities. ...Children with Pierson syndrome must be evaluated in terms of kidney transplantation a …
Mutation of the LAMB2 gene is associated with Pierson syndrome, which is an autosomal recessive disorder characterized by congenital …
4,197 results