Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular‐cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

No abstract is available for this paper.

• Publication year

  2011

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2011-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ajmg.a.33858PMID 22009788
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients

  2008cited by this paper
• Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

  2007cited by this paper
• Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous

  2006cited by this paper
• Axenfeld–Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

  2005cited by this paper
• Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

  2005cited by this paper
• Terminal deletion of 6p results in a recognizable phenotype

  2005cited by this paper
• Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

  2004cited by this paper
• Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment

  2003cited by this paper
• Molecular genetics of Axenfeld-Rieger malformations.

  2002cited by this paper
• Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

  2002cited by this paper
• A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome.

  2001cited by this paper
• Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8).

  2001cited by this paper
• Identification of a Dominant Negative Homeodomain Mutation in Rieger Syndrome*

  2001cited by this paper
• A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

  2001cited by this paper
• Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.

  2001cited by this paper
• Screening for Mutations of Axenfeld-Rieger Syndrome Caused by FOXC1 Gene in Japanese Patients

  2001cited by this paper
• Axenfeld-Rieger syndrome in the age of molecular genetics.

  2000influential reference
• Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

  2000cited by this paper
• Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

  2000cited by this paper
• A mutation in the RIEG1 gene associated with Peters’ anomaly

  1999cited by this paper
• Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects

  1999cited by this paper
• Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.

  1998cited by this paper
• The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

  1998influential reference
• Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.

  1998cited by this paper
• The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.

  1998cited by this paper
• Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene.

  1998cited by this paper
• Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

  1998cited by this paper
• Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

  1998cited by this paper
• Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.

  1997cited by this paper
• Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

  1996influential reference
• Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.

  1996cited by this paper
• Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.

  1996cited by this paper
• A second locus for Rieger syndrome maps to chromosome 13q14.

  1996cited by this paper
• Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome.

  1983cited by this paper
• The Axenfeld syndrome and the Rieger syndrome.

  1978cited by this paper

• FOXC1 regulates endothelial CD98 (LAT1/4F2hc) expression in retinal angiogenesis and blood-retina barrier formation

  2024cites this paper
• Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features

  2023cites this paper
• The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

  2022cites this paper
• Axenfeld-Rieger syndrome: more than meets the eye

  2022cites this paper
• The Axenfeld–Rieger Syndrome Gene FOXC1 Contributes to Left–Right Patterning

  2021cites this paper
• A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation

  2020cites this paper
• The Axenfeld-Rieger syndrome gene FOXC1 contributes to left-right patterning

  2020cites this paper
• Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.

  2019cites this paper
• Prognostic factors of pediatric glaucoma: a retrospective study

  2019cites this paper
• Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.

  2019influential citation
• Axenfeld‐Rieger syndrome

  2018cites this paper
• Congenital radial head dislocation and low immunoglobulin M levels in 6p25.3 deletion.

  2017cites this paper
• Phenotype of a Belgian Family With 6p25 Deletion Syndrome

  2016cites this paper
• Forkhead box transcription factors in embryonic heart development and congenital heart disease.

  2016cites this paper
• Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients

  2014cites this paper
• Begleitende okuläre Pathologien, Progressionsmuster, Therapieergebnisse und Visusprognose

  2014cites this paper
• Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

  2014cites this paper
• 6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.

  2013cites this paper
• Contribution of FOXC1 to the development of Axenfeld-Rieger Syndrome and glaucoma

  2013cites this paper