PubMed for id: 902924

Year	Number of Results
1999	1
2014	1
2015	1
2019	1
2020	2
2024	0

1

TUBGCP4 - associated microcephaly and chorioretinopathy.

Da Palma MM, Motta FL, Takitani GEDS, Salles MV, Lima LH, Ferraz Sallum JM. Da Palma MM, et al. Ophthalmic Genet. 2020 Apr;41(2):189-193. doi: 10.1080/13816810.2020.1747084. Epub 2020 Apr 9. Ophthalmic Genet. 2020. PMID: 32270730

2

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.

Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME. Shurygina MF, et al. Invest Ophthalmol Vis Sci. 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. Invest Ophthalmol Vis Sci. 2020. PMID: 33137195 Free PMC article.

3

NEW FINDINGS FROM MULTIMODAL FUNDUS IMAGING OVER 3 YEARS OF A PATIENT WITH MICROCEPHALY, CHORIORETINOPATHY, AND KIF11 MUTATION.

Rososinski A, Tran T, Galvin J, Patel C, Fung AT. Rososinski A, et al. Retin Cases Brief Rep. 2019 Winter;13(1):79-83. doi: 10.1097/ICB.0000000000000538. Retin Cases Brief Rep. 2019. PMID: 28085761

4

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strähle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H. Scheidecker S, et al. Am J Hum Genet. 2015 Apr 2;96(4):666-74. doi: 10.1016/j.ajhg.2015.02.011. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817018 Free PMC article.

5

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K. Robitaille JM, et al. JAMA Ophthalmol. 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814. JAMA Ophthalmol. 2014. PMID: 25124931

6

Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.

Limwongse C, Wyszynski RE, Dickerman LH, Robin NH. Limwongse C, et al. Am J Med Genet. 1999 Sep 17;86(3):215-8. Am J Med Genet. 1999. PMID: 10482868

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