ALLMedicine™ Axenfeld-Rieger Syndrome Center
Research & Reviews 151 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008669
BMC Ophthalmology; Gołaszewska K, Dub N et. al.
Mar 30th, 2021 - Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant eye disorder that can also affect other organs of the human body. The condition is primarily characterized by the anterior segmental abnormalities of the eye. Here, we present an observat...
https://doi.org/10.1111/scd.12579
Special Care in Dentistry : Official Publication of the A... Siddiqui HP, Sennimalai K et. al.
Mar 15th, 2021 - The congenital oligodontia impeding the development of the alveolar process resulting in disproportionate jaw growth has been previously reported. This case report describes the interdisciplinary management of an 11-year-old girl with Axenfeld-Rie...
https://doi.org/10.1007/s10792-021-01704-5 10.1017/S1462399405010082 10.1101/gad.11.16.2023 10.1038/ejhg.2012.80 10.1111/odi.12894 10.1111/cge.13148 10.1038/ejhg.2017.147 10.1093/bioinformatics/btp324 10.1093/hmg/ddi365 10.1242/dev.00849 10.1161/CIRCRESAHA.107.163188 10.1128/MCB.01848-06 10.1016/j.ydbio.2008.02.030 10.1093/hmg/6.3.457 10.1002/(SICI)1097-0177(200005)218:1<195::AID-DVDY17>3.0.CO;2-C 10.1093/hmg/ddl008
International Ophthalmology; Zhang F, Zhang L et. al.
Jan 25th, 2021 - Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by ocular anterior segment abnormalities. In the current study, we describe clinical and genetic findings in a Chinese ARS pedigree. An ARS pedigree was recruited and p...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839469
American Journal of Medical Genetics. Part A; Souzeau E, Siggs OM et. al.
Nov 24th, 2020 - Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes ha...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553719
Molecular Vision; Qin Y, Gao P et. al.
Oct 22nd, 2020 - To identify the genetic cause in a four-generation Chinese family with Axenfeld-Rieger syndrome (ARS). The family members received clinical examinations of the eye, tooth, periumbilical skin, and heart. Sanger sequencing and whole-exome sequencing...
Clinicaltrials.gov 151 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008669
BMC Ophthalmology; Gołaszewska K, Dub N et. al.
Mar 30th, 2021 - Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant eye disorder that can also affect other organs of the human body. The condition is primarily characterized by the anterior segmental abnormalities of the eye. Here, we present an observat...
https://doi.org/10.1111/scd.12579
Special Care in Dentistry : Official Publication of the A... Siddiqui HP, Sennimalai K et. al.
Mar 15th, 2021 - The congenital oligodontia impeding the development of the alveolar process resulting in disproportionate jaw growth has been previously reported. This case report describes the interdisciplinary management of an 11-year-old girl with Axenfeld-Rie...
https://doi.org/10.1007/s10792-021-01704-5 10.1017/S1462399405010082 10.1101/gad.11.16.2023 10.1038/ejhg.2012.80 10.1111/odi.12894 10.1111/cge.13148 10.1038/ejhg.2017.147 10.1093/bioinformatics/btp324 10.1093/hmg/ddi365 10.1242/dev.00849 10.1161/CIRCRESAHA.107.163188 10.1128/MCB.01848-06 10.1016/j.ydbio.2008.02.030 10.1093/hmg/6.3.457 10.1002/(SICI)1097-0177(200005)218:1<195::AID-DVDY17>3.0.CO;2-C 10.1093/hmg/ddl008
International Ophthalmology; Zhang F, Zhang L et. al.
Jan 25th, 2021 - Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by ocular anterior segment abnormalities. In the current study, we describe clinical and genetic findings in a Chinese ARS pedigree. An ARS pedigree was recruited and p...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839469
American Journal of Medical Genetics. Part A; Souzeau E, Siggs OM et. al.
Nov 24th, 2020 - Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes ha...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553719
Molecular Vision; Qin Y, Gao P et. al.
Oct 22nd, 2020 - To identify the genetic cause in a four-generation Chinese family with Axenfeld-Rieger syndrome (ARS). The family members received clinical examinations of the eye, tooth, periumbilical skin, and heart. Sanger sequencing and whole-exome sequencing...