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About 1,197 results

ALLMedicine™ Aniridia Center

Research & Reviews  597 results

Structural and functional consequences of PAX6 mutations in the brain: Implications for...
https://doi.org/10.1016/j.brainres.2021.147283
Brain Research; Grant MK, Bobilev AM et. al.

Jan 30th, 2021 - The paired-box 6 (PAX6) gene encodes a highly conserved transcription factor essential for the proper development of the eye and brain. Heterozygous loss-of-function mutations in PAX6 are causal for a condition known as aniridia in humans and the ...

A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.
https://doi.org/10.1080/13816810.2020.1852577
Ophthalmic Genetics; Lind KT, Cost NG et. al.

Dec 10th, 2020 - Introduction: Wilms tumor (WT) is the most common renal malignancy of children and can be seen in WAGR syndrome (WT, aniridia, genitourinary anomalies, and intellectual disability). WAGR results from a contiguous gene deletion within the 11p13 reg...

Heterozygous PAX6 mutations may lead to hyper-proinsulinaemia and glucose intolerance: ...
https://doi.org/10.1111/dme.14456
Diabetic Medicine : a Journal of the British Diabetic Ass... Tian W, Zhu XR et. al.

Nov 10th, 2020 - PAX6 is a transcription factor involved in embryonic development of many organs, including the eyes and the pancreas. Mutations of PAX6 gene is the main cause of a rare disease, congenital aniridia (CA). This case-control study aims to investigate...

Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor an...
https://doi.org/10.1002/cncr.33304
Cancer Hol JA, Jongmans MCJ et. al.

Nov 4th, 2020 - WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays) is a rare contiguous gene deletion syndrome with a 45% to 60% risk of developing Wilms tumor (WT). Currently, surveillance and treatment recommendati...

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proban...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579785
BMC Medical Genetics; Marakhonov AV, Mishina IA et. al.

Oct 23rd, 2020 - Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagnostic search in some cases of ophthalmi...

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Clinicaltrials.gov  599 results

Structural and functional consequences of PAX6 mutations in the brain: Implications for...
https://doi.org/10.1016/j.brainres.2021.147283
Brain Research; Grant MK, Bobilev AM et. al.

Jan 30th, 2021 - The paired-box 6 (PAX6) gene encodes a highly conserved transcription factor essential for the proper development of the eye and brain. Heterozygous loss-of-function mutations in PAX6 are causal for a condition known as aniridia in humans and the ...

A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.
https://doi.org/10.1080/13816810.2020.1852577
Ophthalmic Genetics; Lind KT, Cost NG et. al.

Dec 10th, 2020 - Introduction: Wilms tumor (WT) is the most common renal malignancy of children and can be seen in WAGR syndrome (WT, aniridia, genitourinary anomalies, and intellectual disability). WAGR results from a contiguous gene deletion within the 11p13 reg...

Heterozygous PAX6 mutations may lead to hyper-proinsulinaemia and glucose intolerance: ...
https://doi.org/10.1111/dme.14456
Diabetic Medicine : a Journal of the British Diabetic Ass... Tian W, Zhu XR et. al.

Nov 10th, 2020 - PAX6 is a transcription factor involved in embryonic development of many organs, including the eyes and the pancreas. Mutations of PAX6 gene is the main cause of a rare disease, congenital aniridia (CA). This case-control study aims to investigate...

Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor an...
https://doi.org/10.1002/cncr.33304
Cancer Hol JA, Jongmans MCJ et. al.

Nov 4th, 2020 - WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays) is a rare contiguous gene deletion syndrome with a 45% to 60% risk of developing Wilms tumor (WT). Currently, surveillance and treatment recommendati...

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proban...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579785
BMC Medical Genetics; Marakhonov AV, Mishina IA et. al.

Oct 23rd, 2020 - Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagnostic search in some cases of ophthalmi...

see more →

News  1 results

FDA OKs First Prosthetic Iris
https://www.medpagetoday.com/ophthalmology/generalophthalmology/73181

May 30th, 2018 - The FDA approved the first stand-alone prosthetic iris on Wednesday for adults and children with aniridia, a rare congenital condition, or other damage to the eye. Made of thin and foldable medical-grade silicone, CustomFlex Artificial Iris is ind...

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