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Links from Nucleotide

Items: 4

1.
A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan, Jingming Shi
BMC Med Genet. 2019; 20: 105. Published online 2019 Jun 11. doi: 10.1186/s12881-019-0840-9
PMCID:
PMC6560744
AbstractArticlePDF–3.4M
2.
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma
Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Jesús-José Ferre-Fernández, Susana Alexandre-Moreno, Laura Morales, Carmen-Dora Méndez-Hernández, Julián García-Feijoo, Julio Escribano
PLoS One. 2019; 14(1): e0211029. Published online 2019 Jan 18. doi: 10.1371/journal.pone.0211029
PMCID:
PMC6338360
AbstractArticlePDF–2.3M
3.
Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene
Hirofumi Arakawa, Tatsuya Nakamura, Alexander B. Zhadanov, Vincenzo Fidanza, Takahiro Yano, Florencia Bullrich, Masayoshi Shimizu, Janna Blechman, Alexander Mazo, Eli Canaani, Carlo M. Croce
Proc Natl Acad Sci U S A. 1998 Apr 14; 95(8): 4573–4578. doi: 10.1073/pnas.95.8.4573
PMCID:
PMC22531
AbstractArticlePDF–352K
4.
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N. Weinreb, Silvana Penco, André Reis, Francesca Pasutto
Orphanet J Rare Dis. 2016; 11: 108. Published online 2016 Aug 2. doi: 10.1186/s13023-016-0495-y
PMCID:
PMC4970237
AbstractArticlePDF–1.5M

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