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Catherine Downs

Research Profile

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Chemicals & Drugs

Anatomy

Chromosomes, Human, Pair 1

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Rosa M Ayala-Lugo; Hemant Pawar; David Reed; Paul R Lichter; Sayoko E Moroi; Michael Page; James Eadie; Veronica Azocar; Eugenio A Maul; Christine Ntim-Amponsah; William Bromley; Ebenezer Obeng-Nyarkoh; A Tim Johnson; Theresa Guckian Kijek; Catherine A Downs; Jenae M Johnson; Rodolfo A Perez-Grossmann; Maria-Luisa Guevara-Fujita; Ricardo Fujita; Margaret R Wallace; Julia E Richards
Variation in optineurin (OPTN) allele frequencies between and within populations.
Ning C McLaren; David Reed; David C Musch; Catherine A Downs; Misao E Higashi; Cecilia Santiago; Pauline A Radenbaugh; R Rand Allingham; Julia E Richards; Sayoko E Moroi
Evaluation of the beta2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations.
Abigail Woodroffe; Charles M Krafchak; Nobuo Fuse; Paul R Lichter; Sayoko E Moroi; Robert M Schertzer; Catherine A Downs; William L Duren; Michael Boehnke; Julia E Richards
Ordered subset analysis supports a glaucoma locus at GLC1I on chromosome 15 in families with earlier adult age at diagnosis.

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All Publications

2007: Rosa M Ayala-Lugo; Hemant Pawar; David Reed; Paul R Lichter; Sayoko E Moroi; Michael Page; James Eadie; Veronica Azocar; Eugenio A Maul; Christine Ntim-Amponsah; William Bromley; Ebenezer Obeng-Nyarkoh; A Tim Johnson; Theresa Guckian Kijek; Catherine A Downs; Jenae M Johnson; Rodolfo A Perez-Grossmann; Maria-Luisa Guevara-Fujita; Ricardo Fujita; Margaret R Wallace; Julia E Richards
Variation in optineurin (OPTN) allele frequencies between and within populations.
Molecular vision 2007;13():151-63.
2007: Ning C McLaren; David Reed; David C Musch; Catherine A Downs; Misao E Higashi; Cecilia Santiago; Pauline A Radenbaugh; R Rand Allingham; Julia E Richards; Sayoko E Moroi
Evaluation of the beta2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations.
Archives of ophthalmology 2007;125(1):105-11.
2006: Abigail Woodroffe; Charles M Krafchak; Nobuo Fuse; Paul R Lichter; Sayoko E Moroi; Robert M Schertzer; Catherine A Downs; William L Duren; Michael Boehnke; Julia E Richards
Ordered subset analysis supports a glaucoma locus at GLC1I on chromosome 15 in families with earlier adult age at diagnosis.
Experimental eye research 2006;82(6):1068-74.
2005: Charles M Krafchak; Hemant Pawar; Sayoko E Moroi; Alan Sugar; Paul R Lichter; David A Mackey; Shahzad I Mian; Theresa M Cooney; Victor M Elner; Miriam T Schteingart; Catherine A Downs; Theresa Guckian Kijek; Jenae M Johnson; Edward H Trager; Frank W Rozsa; Md Nawajes A Mandal; Michael P Epstein; Douglas Vollrath; Radha Ayyagari; Michael Boehnke; Julia E Richards
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
American journal of human genetics 2005;77(5):694-708.
2004: Satoko Shimizu; Charles M Krafchak; Nobuo Fuse; Michael P Epstein; Miriam T Schteingart; Alan Sugar; Maya Eibschitz-Tsimhoni; Catherine A Downs; Frank W Rozsa; Edward H Trager; David Reed; Michael Boehnke; Sayoko E Moroi; Julia E Richards
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10.
American journal of medical genetics. Part A 2004;130A(4):372-7.
2004: Brian P Brooks; Sayoko E Moroi; Catherine A Downs; Shannon Wiltse; Mohammad I Othman; Elena V Semina; Julia E Richards
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
Ophthalmic genetics 2004;25(1):57-62.
2003: Brian P Brooks; Susan L Dagenais; Christine C Nelson; Michael W Glynn; Mark S Caulder; Catherine A Downs; Thomas W Glover
Mutation of the FOXC2 gene in familial distichiasis.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2003;7(5):354-7.
2003: Pauline Lim; Paul R Lichter; Misao Higashi; Catherine A Downs; Julia E Richards
Septuagenarian's phenotype leads to ascertainment of familial MYOC gene mutation.
Journal of glaucoma 2003;12(2):98-103.
2003: Sayoko E Moroi; Parag A Gokhale; Miriam T Schteingart; Alan Sugar; Catherine A Downs; Satoko Shimizu; Charles M Krafchak; Nobuo Fuse; Susan G Elner; Victor M Elner; Andrew Flint; Michael P Epstein; Michael Boehnke; Julia E Richards
Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy.
American journal of ophthalmology 2003;135(4):461-70.
2003: David J Brown; Theresa B Kim; Elizabeth M Petty; Catherine A Downs; Donna M Martin; Peter J Strouse; Sayoko E Moroi; Stephen S Gebarski; Marci M Lesperance
Characterization of a stapes ankylosis family with a NOG mutation.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2003;24(2):210-5.
2002: David J Brown; Theresa B Kim; Elizabeth M Petty; Catherine A Downs; Donna M Martin; Peter J Strouse; Sayoko E Moroi; Jeff M Milunsky; Marci M Lesperance
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
American journal of human genetics 2002;71(3):618-24.
2001: Robert P Erickson; Susan L Dagenais; Mark S Caulder; Catherine A Downs; G Herman; M C Jones; W S Kerstjens-Frederikse; A C Lidral; M McDonald; Christine C Nelson; Marlys H Witte; Thomas W Glover
Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.
Journal of medical genetics 2001;38(11):761-6.
2000: Satoko Shimizu; Paul R Lichter; A Tim Johnson; Z Zhou; Misao Higashi; MS Gottfredsdottir; Mohammad I Othman; Sayoko E Moroi; Frank W Rozsa; Robert M Schertzer; M S Clarke; A L Schwartz; Catherine A Downs; Douglas Vollrath; Julia E Richards
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.
American journal of ophthalmology 2000;130(2):165-77.
1999: Frances A Farley; Paul R Lichter; Catherine A Downs; Iain McIntosh; Douglas Vollrath; Julia E Richards
An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma.
Journal of pediatric orthopedics 1999;19(5):624-31.
1998: Mohammad I Othman; S A Sullivan; G L Skuta; D A Cockrell; Heather M Stringham; Catherine A Downs; A Fornés; A Mick; Michael Boehnke; Douglas Vollrath; Julia E Richards
Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.
American journal of human genetics 1998;63(5):1411-8.
1998: Frank W Rozsa; Satoko Shimizu; Paul R Lichter; A Tim Johnson; Mohammad I Othman; K Scott; Catherine A Downs; T D Nguyen; Jon R Polansky; Julia E Richards
GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.
Molecular vision 1998;4():20.
1998: Julia E Richards; Robert Ritch; Paul R Lichter; Frank W Rozsa; Heather M Stringham; R M Caronia; D Johnson; G P Abundo; J Willcockson; Catherine A Downs; Debra A Thompson; Maria A Musarella; N Gupta; Mohammad I Othman; D M Torrez; S B Herman; D J Wong; Misao Higashi; Michael Boehnke
Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.
Ophthalmology 1998;105(9):1698-707.
1998: A J Griffith; Steven A Telian; Catherine A Downs; Jerome L Gorski; Stephen S Gebarski; Anil K Lalwani; Sharon Sheldon
Familial Mondini dysplasia.
The Laryngoscope 1998;108(9):1368-73.
1997: Paul R Lichter; Julia E Richards; Catherine A Downs; Heather M Stringham; Michael Boehnke; Frances A Farley
Cosegregation of open-angle glaucoma and the nail-patella syndrome.
American journal of ophthalmology 1997;124(4):506-15.
1997: Paul R Lichter; Julia E Richards; Michael Boehnke; Mohammad I Othman; B D Cameron; Heather M Stringham; Catherine A Downs; S B Lewis; B F Boyd
Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family.
American journal of ophthalmology 1997;123(3):413-6.
1996: Andrew J Griffith; H Alexander Arts; Catherine A Downs; Jeffrey W Innis; NT Shepard; Sharon Sheldon; Stephen S Gebarski
Familial large vestibular aqueduct syndrome.
The Laryngoscope 1996;106(8):960-5.
1996: Paul R Lichter; Julia E Richards; Michael Boehnke; Mohammad I Othman; B D Cameron; Heather M Stringham; Catherine A Downs; S B Lewis; B F Boyd
Juvenile glaucoma linked to GLCIA in a Panamanian family.
Transactions of the American Ophthalmological Society 1996;94():335-46; discussion 347-51.