Publications:

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Axenfeld-Rieger syndrome: more than meets the eye.

Journal Of Medical Genetics

Reis, Linda M LM; Maheshwari, Mohit M; Capasso, Jenina J; Atilla, Huban H; Dudakova, Lubica L; Thompson, Samuel S; Zitano, Lia L; Lay-Son, Guillermo G; Lowry, R Brian RB; Black, Jennifer J; Lee, Joseph J; Shue, Ann A; Kremlikova Pourova, Radka R; Vaneckova, Manuela M; Skalicka, Pavlina P; Jedlickova, Jana J; Trkova, Marie M; Williams, Bradley B; Richard, Gabriele G; Bachman, Kristine K; Seeley, Andrea H AH; Costakos, Deborah D; Glaser, Thomas M TM; Levin, Alex V AV; Liskova, Petra P; Murray, Jeffrey C JC; Semina, Elena V EV

Publication Date: 2022-07-26

Variant appearance in text: PITX2: 272G>A

PubMed Link: 35882526

Variant Present in the following documents:

• jmg-2022-108646supp001.pdf

View BVdb publication page

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The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld-Rieger syndrome patient with small cornea: a case report.

Bmc Ophthalmology

Ma, Yajuan Y; Wu, Xingdi X; Ni, Shuang S; Chen, Xiang X; He, Suhong S; Xu, Wen W

Publication Date: 2020-04-15

Variant appearance in text: PITX2: 272G>A; Arg91Gln

PubMed Link: 32295643

Variant Present in the following documents:

• 12886_2020_Article_1406.pdf

View BVdb publication page

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Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.

Omics : A Journal Of Integrative Biology

Thomford, Nicholas Ekow NE; Dzobo, Kevin K; Yao, Nana Akyaa NA; Chimusa, Emile E; Evans, Jonathan J; Okai, Emmanuel E; Kruszka, Paul P; Muenke, Maximilian M; Awandare, Gordon G; Wonkam, Ambroise A; Dandara, Collet C

Publication Date: 2018-05

Variant appearance in text: PITX2: R91Q

PubMed Link: 29762087

Variant Present in the following documents:

• Main text

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Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.

Plos One

Seifi, Morteza M; Walter, Michael A MA

Publication Date: 2018

Variant appearance in text: PITX2: R91Q

PubMed Link: 29664915

Variant Present in the following documents:

• Main text
• pone.0195971.pdf

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A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome.

Molecular Syndromology

Hassed, Susan J SJ; Li, Shibo S; Xu, Weihong W; Taylor, Ashley C AC

Publication Date: 2017-03

Variant appearance in text: PITX2: 272G>A; Arg91Gln

PubMed Link: 28611552

Variant Present in the following documents:

• Main text

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PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.

Plos One

Zhao, Cui-Mei CM; Peng, Lu-Ying LY; Li, Li L; Liu, Xing-Yuan XY; Wang, Juan J; Zhang, Xian-Ling XL; Yuan, Fang F; Li, Ruo-Gu RG; Qiu, Xing-Biao XB; Yang, Yi-Qing YQ

Publication Date: 2015

Variant appearance in text: PITX2: R91Q

PubMed Link: 25893250

Variant Present in the following documents:

• Main text
• pone.0124409.pdf

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