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John Heckenlively

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TOP 3
Leigh H Spielberg; John R Heckenlively; Anita M Leys
Retinal pigment epithelial detachments and tears, and progressive retinal degeneration in light chain deposition disease.
Sarwar Zahid; Kari E H Branham; Thiran Jayasundera; Naheed Khan; David C Musch; Leslie M Niziol; William Rhoades; John R Heckenlively
Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease.
Ioannis Kokkinopoulos; Alan Colman; John R Heckenlively; Chris Hogg; Glen Jeffery
Age-related retinal inflammation is reduced by 670 nm light via increased mitochondrial membrane potential.

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All Publications

2013: Leigh H Spielberg; John R Heckenlively; Anita M Leys
Retinal pigment epithelial detachments and tears, and progressive retinal degeneration in light chain deposition disease.
The British journal of ophthalmology 2013;97(5):627-31.
2013: Sarwar Zahid; Kari E H Branham; Thiran Jayasundera; Naheed Khan; David C Musch; Leslie M Niziol; William Rhoades; John R Heckenlively
Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease.
American journal of ophthalmology 2013;155(3):465-473.e3.
2013: Ioannis Kokkinopoulos; Alan Colman; John R Heckenlively; Chris Hogg; Glen Jeffery
Age-related retinal inflammation is reduced by 670 nm light via increased mitochondrial membrane potential.
Neurobiology of aging 2013;34(2):602-9.
2013: Jennifer D Churchill; David G Birch; Sara J Bowne; Kari E Branham; John R Heckenlively; Richard Alan Lewis; Lori S Sullivan; Dianna K Wheaton; Stephen P Daiger
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2013;54(2):1411-6.
2012: Kari E H Branham; Matthew Brumm; Maria Laura Ciccarelli; Jacque L Duncan; Gerald A Fishman; John R Heckenlively; Alessandro Iannaccone; Samuel G Jacobson; K Thiran Jayasundera; Barbara Jennings; Athanasios J Karoukis; Richard A Lewis; Mohammad Othman; Sharon B Schwartz; Paul Sieving; Niamh B Stover; sten andreasson; Pelin Atmaca Sonmez; Jean Bennett; David Birch; Karmen M Trzupek; Richard G Weleber; Dianna Wheaton; Beverly M Yashar; Anand Swaroop
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Investigative ophthalmology & visual science 2012;53(13):8232-7.
2012: Debra A Thompson; Zhijian Wu; Bo Chang; Peter Colosi; Garrett Grahek; Suja Hiriyanna; Lin Jia; Naheed W Khan; Hemant Khanna; Tiansen Li; Jacob Nellissery; Mohammad I Othman; Anand Swaroop; John R Heckenlively
Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.
PloS one 2012;7(5):e35865.
2011: John R Heckenlively
New concept: treating nonproliferative diabetic retinopathy with light adaptation of rods during sleep.
Eye (London, England) 2011;25(12):1533-4.
2011: Bernd Wissinger; Christiane Wolf; Ditta Zobor; Eberhart Zrenner; Monika Andrassi-Darida; Britta Baumann; Antje Bernd; Michael Bonin; Frans P M Cremers; Elfride De Baere; Hélène Dollfus; Enyedi Peter; Christoph Friedburg; John R Heckenlively; Carel B Hoyng; Herbert Jägle; Ulrich Kellner; Bart P Leroy; Birgit Lorenz; Astrid Plomp; Thomas Rosenberg; Günter Rudolph; Roberto Salati; Alexandra Sauer; Simone Schaich; Balázs Varsányi; Susanne Kohl
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Human mutation 2011;32(12):1398-406.
2011: Moumita Chaki; John R Heckenlively; Susan J Allen; Carsten Bergmann; Julia Hoefele; Sabine Janssen; Edgar Otto; Gokul Ramaswami; Friedhelm Hildebrandt
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Kidney international 2011;80(11):1239-45.
2011: Rob W J Collin; L Ingeborgh Van Den Born; B Jeroen Klevering; Marta de Castro Miró; Karin W Littink; Kentar Arimadyo; Maleeha Azam; Volkan Yazar; Marijke N Zonneveld; Codrut C Paun; Anna M Siemiatkowska; Tim M Strom; Jayne Y Hehir-Kwa; Hester Y Kroes; Jan-Tjeerd H N de Faber; Mary J van Schooneveld; John R Heckenlively; Carel B Hoyng; Anneke I den Hollander; Frans P M Cremers
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Investigative ophthalmology & visual science 2011;52(5):2227-39.
2011: Jingyu Yao; Kecia L Feathers; Hemant Khanna; Debra A Thompson; Catherine Tsilfidis; William W Hauswirth; John R Heckenlively; Anand Swaroop; David N Zacks
XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina.
Investigative ophthalmology & visual science 2011;52(3):1567-72.
2011: Larry Koreen; Shirley X He; Mark W Johnson; Richard E Hackel; Naheed W Khan; John R Heckenlively
Anti-retinal pigment epithelium antibodies in acute exudative polymorphous vitelliform maculopathy: a new hypothesis about disease pathogenesis.
Archives of ophthalmology 2011;129(1):23-9.
2011: Sara J Bowne; Lori S Sullivan; Daniel C Koboldt; Li Ding; Robert Fulton; Rachel M Abbott; Erica J Sodergren; David G Birch; Dianna H Wheaton; John R Heckenlively; Qin Liu; Eric A Pierce; George M Weinstock; Stephen P Daiger
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.
Investigative ophthalmology & visual science 2011;52(1):494-503.
2010: Keith H Baratz; Nirubol Tosakulwong; Euijung Ryu; William L Brown; Kari E H Branham; Wei Chen; Khoa D Tran; Katharina E Schmid-Kubista; John R Heckenlively; Anand Swaroop; Goncalo Abecasis; Kent R Bailey; Albert O Edwards
E2-2 protein and Fuchs's corneal dystrophy.
The New England journal of medicine 2010;363(11):1016-24.
2010: James S Friedman; Bo Chang; Daniel S Krauth; Irma Lopez; Naushin H Waseem; Ron E Hurd; Kecia L Feathers; Kari E H Branham; Manessa Shaw; George E Thomas; Matthew J Brooks; Chunqiao Liu; Hirva A Bakeri; Maria M Campos; Cecilia Maubaret; Andrew R Webster; Ignacio R Rodriguez; Debra A Thompson; Shomi S Bhattacharya; Robert K Koenekoop; John R Heckenlively; Anand Swaroop
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(35):15523-8.
2010: Thiran Jayasundera; Kari E H Branham; Mohammad I Othman; William R Rhoades; Athanasios J Karoukis; Babak Behnam; Anand Swaroop; John R Heckenlively
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Archives of ophthalmology 2010;128(7):915-23.
2010: D M Wu; Babak Behnam; Pelin Atmaca Sonmez; Paul Sieving; Kari E H Branham; Mohammad I Othman; Anand Swaroop; Stephen P Daiger; John R Heckenlively
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
Eye (London, England) 2010;24(5):764-74.
2010: Wei Chen; Dwight Stambolian; Albert O Edwards; Kari E H Branham; Mohammad Othman; Johanna Jakobsdottir; Nirubol Tosakulwong; Margaret Pericak-Vance; Peter A Campochiaro; Michael L Klein; Perciliz L Tan; Yvette P Conley; Atsuhiro Kanda; Laura Kopplin; Yanming Li; Katherine J Augustaitis; Athanasios J Karoukis; William Scott; Anita Agarwal; Jaclyn Kovach; Stephen Schwartz; Eric A Postel; Matthew Brooks; Keith H Baratz; William L Brown; Alexander J Brucker; Anton Orlin; Gary Brown; Allen Ho; Carl Regillo; Larry Donoso; Lifeng Tian; Brian Kaderli; Dexter Hadley; Stephanie A Hagstrom; Neal S Peachey; Ronald Klein; Barbara E K Klein; Gotoh Norimoto; Kenji Yamashiro; Frederick Ferris Iii; Jesen A Fagerness; Robyn Reynolds; Lindsay Farrer; Ivana K Kim; Joan W Miller; Marta Cortón; Angel Carracedo; Manuel Sanchez-Salorio; Elizabeth W Pugh; Kimberly F Doheny; Maria Brion; Margaret M Deangelis; Daniel E Weeks; Donald J Zack; Emily Y Chew; John R Heckenlively; Nagahisa Yoshimura; Sudha K Iyengar; Peter J Francis; Nicholas Katsanis; Johanna M Seddon; Jonathan L Haines; Michael B Gorin; Gonçalo R Abecasis; Anand Swaroop
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(16):7401-6.
2010: Thiran Jayasundera; William Rhoades; Kari E H Branham; Leslie M Niziol; David C Musch; John R Heckenlively
Peripapillary dark choroid ring as a helpful diagnostic sign in advanced stargardt disease.
American journal of ophthalmology 2010;149(4):656-660.e2.
2010: Ying Lu; Shirley He; Lin Jia; Naheed W Khan; John R Heckenlively
Two mouse models for recoverin-associated autoimmune retinopathy.
Molecular vision 2010;16():1936-48.
2010: Stephen P Daiger; Lori S Sullivan; Sara J Bowne; David G Birch; John R Heckenlively; Eric A Pierce; George M Weinstock
Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.
Advances in experimental medicine and biology 2010;664():325-31.
2010: John R Heckenlively; Henry A Ferreyra; Thiran Jayasundera; Thiran Janasundera
Controversies of diagnosing autoimmune retinopathy.
Archives of ophthalmology 2010;128(1):147-8; author reply 148-9.
2009: Ying Lu; Lin Jia; Shirley He; Mary C Hurley; Monique J Leys; Thiran Jayasundera; John R Heckenlively
Melanoma-associated retinopathy: a paraneoplastic autoimmune complication.
Archives of ophthalmology 2009;127(12):1572-80.
2009: Bo Chang; Tanja Grau; Susann Dangel; Ron Hurd; Bernhard Jurklies; E Cumhur Sener; sten andreasson; Hélène Dollfus; Britta Baumann; Sylvia Bolz; Nikolai Artemyev; Susanne Kohl; John R Heckenlively; Bernd Wissinger
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(46):19581-6.
2009: Matthew G Field; Victor M Elner; Seung Park; Richard Hackel; John R Heckenlively; Susan G Elner; Howard R Petty
Detection of retinal metabolic stress resulting from central serous retinopathy.
Retina (Philadelphia, Pa.) 2009;29(8):1162-6.
2009: Veronique B D Kitiratschky; Petra Behnen; Ulrich Kellner; John R Heckenlively; Eberhart Zrenner; Herbert Jägle; Susanne Kohl; Bernd Wissinger; Karl-Wilhelm Koch
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
Human mutation 2009;30(8):E782-96.
2009: James S Friedman; Joseph W Ray; Naushin Waseem; Kory Johnson; Matthew J Brooks; Therése Hugosson; Debra Breuer; Kari E H Branham; Daniel S Krauth; Sara J Bowne; Lori S Sullivan; Vesna Ponjavic; Lotta Gränse; Ritu Khanna; Edward H Trager; Linn M Gieser; Dianna Hughbanks-Wheaton; Radu I Cojocaru; Noor M Ghiasvand; Christina F Chakarova; Magnus Abrahamson; Harald HH Goring; Andrew R Webster; David G Birch; Goncalo R Abecasis; Yang Fann; Shomi S Bhattacharya; Stephen P Daiger; John R Heckenlively; Sten Andréasson; Anand Swaroop
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
American journal of human genetics 2009;84(6):792-800.
2009: Henry A Ferreyra; Thiran Jayasundera; Naheed W Khan; Shirley He; Ying Lu; John R Heckenlively
Management of autoimmune retinopathies with immunosuppression.
Archives of ophthalmology 2009;127(4):390-7.
2009: Michael I Dorrell; Edith Aguilar; Ruth Jacobson; Oscar Yanes; Ray Gariano; John R Heckenlively; Eyal Banin; G Anthony Ramirez; Mehdi Gasmi; Alan Bird; Gary Siuzdak; Martin Friedlander
Antioxidant or neurotrophic factor treatment preserves function in a mouse model of neovascularization-associated oxidative stress.
The Journal of clinical investigation 2009;119(3):611-23.
2008: Bo Chang; Md Nawajes A Mandal; Venkata R M Chavali; Norman L Hawes; Naheed W Khan; Ronald E Hurd; Richard S Smith; Muriel L Davisson; Laura Kopplin; Barbara E K Klein; Ronald Klein; Sudha K Iyengar; John R Heckenlively; Radha Ayyagari
Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene.
Human molecular genetics 2008;17(24):3929-41.
2008: Farzin Forooghian; Ian M MacDonald; John R Heckenlively; Elise Héon; Lynn K Gordon; John J Hooks; Barbara Detrick; Robert B Nussenblatt
The need for standardization of antiretinal antibody detection and measurement.
American journal of ophthalmology 2008;146(4):489-95.
2008: Matthew G Field; Victor M Elner; Donald G Puro; Jason M Feuerman; David C Musch; Rodica Pop-Busui; Richard Hackel; John R Heckenlively; Howard R Petty
Rapid, noninvasive detection of diabetes-induced retinal metabolic stress.
Archives of ophthalmology 2008;126(7):934-8.
2008: Sayoko E Moroi; John R Heckenlively
Progress toward personalized medicine for age-related macular degeneration.
Ophthalmology 2008;115(6):925-6.
2008: John R Heckenlively; Henry A Ferreyra
Autoimmune retinopathy: a review and summary.
Seminars in immunopathology 2008;30(2):127-34.
2008: Kaori Shimazaki; Guy V Jirawuthiworavong; John R Heckenlively; Lynn K Gordon
Frequency of anti-retinal antibodies in normal human serum.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2008;28(1):5-11.
2008: Kent W Small; Rosamaria Silva-Garcia; Nitin Udar; Eddy V Nguyen; John R Heckenlively
New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.
Archives of ophthalmology 2008;126(3):397-403.
2008: Susan G Elner; Victor M Elner; Matthew G Field; Seung Park; John R Heckenlively; Howard R Petty
Retinal flavoprotein autofluorescence as a measure of retinal health.
Transactions of the American Ophthalmological Society 2008;106():215-22; discussion 222-4.
2008: Sara J Bowne; Lori S Sullivan; Anisa I Gire; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Stephen P Daiger
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
Molecular vision 2008;14():922-7.
2008: Stephen P Daiger; Lori S Sullivan; Anisa I Gire; David G Birch; John R Heckenlively; Sara J Bowne
Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).
Advances in experimental medicine and biology 2008;613():203-9.
2007: Bo Chang; Norman L Hawes; Machelle T Pardue; A M German; Ronald E Hurd; Muriel T Davisson; Steven Nusinowitz; Kalpana Rengarajan; A P Boyd; Sheree S Sidney; M J Phillips; Rachael E Stewart; R Chaudhury; John M Nickerson; John R Heckenlively; Jeffrey H Boatright
Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene.
Vision research 2007;47(5):624-33.
2007: Katy Downs; David N Zacks; Rafael Caruso; Athanasios J Karoukis; Kari E H Branham; Beverly M Yashar; Mark H Haimann; Karmen M Trzupek; Meira Meltzer; Delphine Blain; Julia E Richards; Richard G Weleber; John R Heckenlively; Paul Sieving; Radha Ayyagari
Molecular testing for hereditary retinal disease as part of clinical care.
Archives of ophthalmology 2007;125(2):252-8.
2007: Anisa I Gire; Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Stephen P Daiger
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.
Molecular vision 2007;13():1970-5.
2006: James S Friedman; Bo Chang; Chitra Kannabiran; Christina F Chakarova; Hardeep Pal Singh; Subhadra Jalali; Norman L Hawes; Kari E H Branham; Mohammad I Othman; Elena Filippova; Debra A Thompson; Andrew R Webster; Sten Andréasson; Samuel G Jacobson; Shomi S Bhattacharya; John R Heckenlively; Anand Swaroop
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
American journal of human genetics 2006;79(6):1059-70.
2006: Md Nawajes A Mandal; Vidyullatha Vasireddy; Monica M Jablonski; Xiaofei Wang; John R Heckenlively; Bret A Hughes; G Bhanuprakash Reddy; Radha Ayyagari
Spatial and temporal expression of MFRP and its interaction with CTRP5.
Investigative ophthalmology & visual science 2006;47(12):5514-21.
2006: Md Nawajes A Mandal; Vidyullatha Vasireddy; G Bhanuprakash Reddy; Xiaofei Wang; Sayoko E Moroi; Bikash R Pattnaik; Bret A Hughes; John R Heckenlively; Peter F Hitchcock; Monica M Jablonski; Radha Ayyagari
CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion.
Investigative ophthalmology & visual science 2006;47(12):5505-13.
2006: Bo Chang; Mark S Dacey; Norman L Hawes; Peter F Hitchcock; Ann H Milam; Pelin Atmaca Sonmez; Steven Nusinowitz; John R Heckenlively
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2.
Investigative ophthalmology & visual science 2006;47(11):5017-21.
2006: Janaki Nathan; Rebecca Reh; Irina Ankoudinova; Genie Ankoudinova; Bo Chang; John R Heckenlively; James B Hurley
Scotopic and photopic visual thresholds and spatial and temporal discrimination evaluated by behavior of mice in a water maze.
Photochemistry and photobiology 2006;82(6):1489-94.
2006: Lori S Sullivan; Sara J Bowne; C Robyn Seaman; S Blanton; Richard A Lewis; John R Heckenlively; David G Birch; Dianna Hughbanks-Wheaton; Stephen P Daiger
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2006;47(10):4579-88.
2006: Steven Nusinowitz; William H Ridder; Ji-Jing Pang; Bo Chang; Syed M Noorwez; Shalesh Kaushal; William W Hauswirth; John R Heckenlively
Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function.
Vision research 2006;46(22):3926-34.
2006: Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Richard Alan Lewis; Charles A Garcia; Richard S Ruiz; S Blanton; Hope Northrup; Anisa I Gire; Robyn Seaman; Hatice Duzkale; Catherine J Spellicy; Jingya Zhu; Suma Shankar; Stephen P Daiger
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Investigative ophthalmology & visual science 2006;47(7):3052-64.
2006: Bo Chang; Hemant Khanna; Norman L Hawes; David Jimeno; Shirley He; Concepcion Lillo; Sunil K Parapuram; Hong Cheng; Alison Scott; Ronald E Hurd; John A Sayer; Edgar Otto; Massimo Attanasio; John F O'Toole; Genglin Jin; Chengchao Shou; Friedhelm Hildebrandt; David S Williams; John R Heckenlively; Anand Swaroop
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
Human molecular genetics 2006;15(11):1847-57.
2006: Amani A Fawzi; Gary N Holland; Allan E Kreiger; John R Heckenlively; Jorge G Arroyo; Emmett T Cunningham
Central serous chorioretinopathy after solid organ transplantation.
Ophthalmology 2006;113(5):805-13.e5.
2006: P Elizabeth Rakoczy; Meaghan J T Yu; Steven Nusinowitz; Bo Chang; John R Heckenlively
Mouse models of age-related macular degeneration.
Experimental eye research 2006;82(5):741-52.
2006: Rafael J Yáñez-Muñoz; Kamaljit S Balaggan; Angus MacNeil; Steven J Howe; Manfred Schmidt; Alexander J Smith; Prateek Buch; Robert MacLaren; Patrick N Anderson; Susie E Barker; Yanai Duran; Cynthia Bartholomae; Christof von Kalle; John R Heckenlively; Christine Kinnon; Robin R Ali; Adrian J Thrasher
Effective gene therapy with nonintegrating lentiviral vectors.
Nature medicine 2006;12(3):348-53.
2006: Shawn Ronan; Steven Nusinowitz; Anand Swaroop; John R Heckenlively
Senile panretinal cone dysfunction in age-related macular degeneration (AMD): a report of 52 amd patients compared to age-matched controls.
Transactions of the American Ophthalmological Society 2006;104():232-40.
2006: Stephen P Daiger; Suma Shankar; Alice B Schindler; Lori S Sullivan; Sara J Bowne; Terri King; E Warick Daw; Edwin M Stone; John R Heckenlively
Genetic factors modifying clinical expression of autosomal dominant RP.
Advances in experimental medicine and biology 2006;572():3-8.
2006: Bo Chang; John R Heckenlively; Philippa R Bayley; Nicholas Brecha; Muriel T Davisson; Norman L Hawes; Arlene A Hirano; Ronald E Hurd; Akihiro Ikeda; Britt A Johnson; Maureen A McCall; Catherine W Morgans; Steven Nusinowitz; Neal S Peachey; Dennis S Rice; Kirstan A Vessey; Ronald G Gregg
The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses.
Visual neuroscience 2006;23(1):11-24.
2006: Sara J Bowne; Lori S Sullivan; Sarah E Mortimer; Lizbeth Hedstrom; Jingya Zhu; Catherine J Spellicy; Anisa I Gire; Dianna Hughbanks-Wheaton; David G Birch; Richard A Lewis; John R Heckenlively; Stephen P Daiger
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
Investigative ophthalmology & visual science 2006;47(1):34-42.
2005: Debra A Thompson; Andreas R Janecke; Jessica Lange; Kecia L Feathers; Christian A Hübner; Christina L McHenry; David Wayne Stockton; Gabriele Rammesmayer; James R Lupski; Guillermo Antinolo; Carmen Ayuso; Montserrat Baiget; Peter Gouras; John R Heckenlively; Anneke I den Hollander; Samuel G Jacobson; Richard A Lewis; Paul Sieving; Bernd Wissinger; Suzanne Yzer; Eberhart Zrenner; Gerd Utermann; Andreas Gal
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Human molecular genetics 2005;14(24):3865-75.
2005: Kenneth A Linberg; Robert Fariss; John R Heckenlively; Debora B Farber; Steven K Fisher
Morphological characterization of the retinal degeneration in three strains of mice carrying the rd-3 mutation.
Visual neuroscience 2005;22(6):721-34.
2005: Kayur H Shah; Ralph D Levinson; Fei Yu; Raquel Goldhardt; Lynn K Gordon; Christine R Gonzales; John R Heckenlively; Peter J Kappel; Gary N Holland
Birdshot chorioretinopathy.
Survey of ophthalmology 2005;50(6):519-41.
2005: Bo Chang; Norman L Hawes; Ronald E Hurd; J Wang; D Howell; Muriel T Davisson; TH Roderick; Steven Nusinowitz; John R Heckenlively
Mouse models of ocular diseases.
Visual neuroscience 2005;22(5):587-93.
2005: Md Nawajes A Mandal; John R Heckenlively; Tracy Burch; Lianchun Chen; Vidyullatha Vasireddy; Robert K Koenekoop; Paul Sieving; Radha Ayyagari
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.
Investigative ophthalmology & visual science 2005;46(9):3355-62.
2005: Richard G Weleber; Robert A Egan; John R Heckenlively; William T Shults; Karmen M Trzupek; Robert C Watzke; Grazyna Adamus
Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies.
American journal of ophthalmology 2005;139(5):780-94.
2005: Amani A Fawzi; Baotran Vo; Ryan Kriwanek; Hema L Ramkumar; Chris Cha; Amy Carts; John R Heckenlively; Robert Y Foos; Ben J Glasgow
Asteroid hyalosis in an autopsy population: The University of California at Los Angeles (UCLA) experience.
Archives of ophthalmology 2005;123(4):486-90.
2005: Ji-Jing Pang; Bo Chang; Norman L Hawes; Ronald E Hurd; Muriel T Davisson; Jie Li; Syed M Noorwez; Ritu Malhotra; J Hugh McDowell; Shalesh Kaushal; William W Hauswirth; Steven Nusinowitz; Debra A Thompson; John R Heckenlively
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
Molecular vision 2005;11():152-62.
2005: José A J M van den Hurk; Penny Rashbass; Ronald Roepman; Jason Davis; Krysta Voesenek; Maarten L Arends; Marijke N Zonneveld; Marga H G van Roekel; Karen Cameron; Klaus Rohrschneider; John R Heckenlively; Robert K Koenekoop; Carel B Hoyng; Frans P M Cremers; Anneke I den Hollander
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
Molecular vision 2005;11():263-73.
2004: Anneke I den Hollander; Jason Davis; Saskia D van der Velde-Visser; Marijke N Zonneveld; Chiara O Pierrottet; Robert K Koenekoop; Ulrich Kellner; L Ingeborgh Van Den Born; John R Heckenlively; Carel B Hoyng; Penny A Handford; Ronald Roepman; Frans P M Cremers
CRB1 mutation spectrum in inherited retinal dystrophies.
Human mutation 2004;24(5):355-69.
2004: Atsushi Otani; Michael I Dorrell; Karen Kinder; Stacey K Moreno; Steven Nusinowitz; Eyal Banin; John R Heckenlively; Martin Friedlander
Rescue of retinal degeneration by intravitreally injected adult bone marrow-derived lineage-negative hematopoietic stem cells.
The Journal of clinical investigation 2004;114(6):765-74.
2004: Andreas R Janecke; Debra A Thompson; Gerd Utermann; Christian Becker; Christian A Hübner; Eduard Schmid; Christina L McHenry; Anita R Nair; Franz Rüschendorf; John R Heckenlively; Bernd Wissinger; Peter Nürnberg; Andreas Gal
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Nature genetics 2004;36(8):850-4.
2004: Qing-liang Wang; Shiming Chen; Noriko Esumi; Prabodh K Swain; Heidi S Haines; Guanghua Peng; B Michele Melia; Iain McIntosh; John R Heckenlively; Samuel G Jacobson; Edwin M Stone; Anand Swaroop; Donald J Zack
QRX, a novel homeobox gene, modulates photoreceptor gene expression.
Human molecular genetics 2004;13(10):1025-40.
2004: Anren Li; Xiaodong Jiao; Francis L Munier; Daniel F Schorderet; Wenliang Yao; Fumino Iwata; Mutsuko Hayakawa; Atsushi Kanai; Muh Shy Chen; Richard Alan Lewis; John R Heckenlively; Richard G Weleber; Elias Traboulsi; Qingjiong Zhang; Xueshan Xiao; Muriel I Kaiser-Kupfer; Yuri V Sergeev; J Fielding Hejtmancik
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
American journal of human genetics 2004;74(5):817-26.
2003: Adrienne K Mehalow; Shuhei Kameya; Richard S Smith; Norman L Hawes; James M Denegre; James A Young; Lesley Bechtold; Neena B Haider; Ulrich Tepass; John R Heckenlively; Bo Chang; Jürgen K Naggert; Patsy M Nishina
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.
Human molecular genetics 2003;12(17):2179-89.
2003: John R Heckenlively; Norman L Hawes; Martin Friedlander; Steven Nusinowitz; Ronald Hurd; Muriel T Davisson; Bo Chang
Mouse model of subretinal neovascularization with choroidal anastomosis.
Retina (Philadelphia, Pa.) 2003;23(4):518-22.
2003: Thomas K M Lee; Kerry E McTaggart; Paul Sieving; John R Heckenlively; Alex V Levin; Jacquie Greenberg; Richard G Weleber; Patrick Y Tong; Edward F Anhalt; Berkley R Powell; Ian M MacDonald
Clinical diagnoses that overlap with choroideremia.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2003;38(5):364-72; quiz 372.
2003: José A J M van den Hurk; Dorien J R van De Pol; Bernd Wissinger; Marc A van Driel; Lies Hoefsloot; Ilse J de Wijs; L Ingeborgh Van Den Born; John R Heckenlively; Han G Brunner; Eberhart Zrenner; Hans-Hilger Ropers; Frans P M Cremers
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
Human genetics 2003;113(3):268-75.
2003: Sara J Bowne; Stephen P Daiger; Kimberly A Malone; John R Heckenlively; Avril Kennan; Peter Humphries; Dianna Hughbanks-Wheaton; David G Birch; Qin Liu; Eric A Pierce; Jian Zuo; Qian Huang; Danyel D Donovan; Lori S Sullivan
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
Molecular vision 2003;9():129-37.
2003: Kenneth W Purdy; John R Heckenlively; Joseph A Church; Margaret A Keller
Progressive outer retinal necrosis caused by varicella-zoster virus in children with acquired immunodeficiency syndrome.
The Pediatric infectious disease journal 2003;22(4):384-6.
2003: Stephen P Daiger; Lori S Sullivan; Sara J Bowne; Avril Kennan; Peter Humphries; David G Birch; John R Heckenlively
Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.
Advances in experimental medicine and biology 2003;533():1-11.
2002: William H Ridder; Steven Nusinowitz; John R Heckenlively
Causes of cataract development in anesthetized mice.
Experimental eye research 2002;75(3):365-70.
2002: Shuhei Kameya; Norman L Hawes; Bo Chang; John R Heckenlively; Jürgen K Naggert; Patsy M Nishina
Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6.
Human molecular genetics 2002;11(16):1879-86.
2002: Kirk Mykytyn; Darryl Y Nishimura; Charles C Searby; Mythreyi Shastri; Hsan-jan Yen; John S Beck; Terry Braun; Luan M Streb; Alberto S Cornier; Gerald F Cox; Anne B Fulton; Rivka Carmi; Güven Lüleci; Settara C Chandrasekharappa; Francis S Collins; Samuel G Jacobson; John R Heckenlively; Richard G Weleber; Edwin M Stone; Val C Sheffield
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Nature genetics 2002;31(4):435-8.
2002: Lisa M Astuto; Julie M Bork; Michael D Weston; James W Askew; R R Fields; Dana J Orten; S J Ohliger; Sheikh Amer Riazuddin; Robert J Morell; Shaheen Khan; S Riazuddin; Hannie Kremer; Peter Van Hauwe; CG Moller; Cor W R J Cremers; C Ayuso; John R Heckenlively; Klaus Rohrschneider; Ulrich H M Spandau; J Greenberg; Rajkumar Ramesar; William Reardon; P Bitoun; J Millan; R Legge; Thomas B Friedman; William J Kimberling
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
American journal of human genetics 2002;71(2):262-75.
2002: M Flynn Roberts; Gerald A Fishman; Daniel Kent Roberts; John R Heckenlively; Richard G Weleber; Robert J Anderson; Sandeep Grover
Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia.
The British journal of ophthalmology 2002;86(6):658-62.
2002: Debra K Breuer; Beverly M Yashar; Elena Filippova; Suja Hiriyanna; Robert H Lyons Jr; Alan J Mears; Bersabell Asaye; Ceren Acar; Raf Vervoort; Alan F Wright; Maria A Musarella; Patricia Wheeler; Ian MacDonald; Alessandro Iannaccone; David Birch; Dennis R Hoffman; Gerald A Fishman; John R Heckenlively; Samuel G Jacobson; Paul Sieving; Anand Swaroop
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
American journal of human genetics 2002;70(6):1545-54.
2002: Jiangang Gao; Kyeongmi Cheon; Steven Nusinowitz; Qin Liu; Di Bei; Karen Atkins; Asif Azimi; Stephen P Daiger; Debora B Farber; John R Heckenlively; Eric A Pierce; Lori S Sullivan; Jian Zuo
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(8):5698-703.
2002: Sara J Bowne; Lori S Sullivan; S Blanton; Constance L Cepko; Seth Blackshaw; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Stephen P Daiger
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
Human molecular genetics 2002;11(5):559-68.
2002: Bo Chang; Norman L Hawes; Ronald E Hurd; Muriel T Davisson; Steven Nusinowitz; John R Heckenlively
Retinal degeneration mutants in the mouse.
Vision research 2002;42(4):517-25.
2002: Qin Liu; Jie Zhou; Stephen P Daiger; Debora B Farber; John R Heckenlively; Julie E Smith; Lori S Sullivan; Jian Zuo; Ann H Milam; Eric A Pierce
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors.
Investigative ophthalmology & visual science 2002;43(1):22-32.
2001: Jonathan Stone; J Maslim; Amani A Fawzi; PA Lancaster; John R Heckenlively
The role of perinatal stress in simplex retinitis pigmentosa: evidence from surveys in Australia and the United States.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2001;36(6):315-22.
2001: Anneke I den Hollander; John R Heckenlively; L Ingeborgh Van Den Born; Yvette J M de Kok; Saskia D van der Velde-Visser; Ulrich Kellner; Bernhard Jurklies; Mary J van Schooneveld; Anita Blankenagel; Klaus Rohrschneider; Bernd Wissinger; J R M Cruysberg; August F Deutman; Han G Brunner; Eckart Apfelstedt-Sylla; Carel B Hoyng; Frans P M Cremers
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
American journal of human genetics 2001;69(1):198-203.
2001: Radouil T Tzekov; Y Liu; Melanie M Sohocki; Donald J Zack; Stephen P Daiger; John R Heckenlively; David G Birch
Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.
Investigative ophthalmology & visual science 2001;42(6):1319-27.
2001: AR Webster; Elise Héon; Andrew J Lotery; K Vandenburgh; Thomas L Casavant; Kean T Oh; G Beck; Gerald A Fishman; Byron Lam; A Levin; John R Heckenlively; Samuel G Jacobson; Richard G Weleber; Val C Sheffield; Edwin M Stone
An analysis of allelic variation in the ABCA4 gene.
Investigative ophthalmology & visual science 2001;42(6):1179-89.
2001: Michael G Anderson; Richard S Smith; Olga V Savinova; Norman L Hawes; Bo Chang; Adriana Zabaleta; R Wilpan; John R Heckenlively; Muriel T Davisson; Simon W M John
Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice.
BMC genetics 2001;2():1.
2001: Melanie M Sohocki; Stephen P Daiger; Sara J Bowne; J A Rodriquez; Hope Northrup; John R Heckenlively; David G Birch; HA Mintz-Hittner; Richard S Ruiz; R A Lewis; D A Saperstein; Lori S Sullivan
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Human mutation 2001;17(1):42-51.
2000: James E Sligh; Shawn Levy; Katrina G Waymire; Paulette Allard; Dirck L Dillehay; S Nusinowitz; John R Heckenlively; Grant R MacGregor; Douglas C Wallace
Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(26):14461-6.
2000: Ann H Milam; Christine A Curcio; Artur Vahe Cideciyan; S Saxena; Sinoj K John; Howard S Kruth; Goldis Malek; John R Heckenlively; Richard G Weleber; Samuel G Jacobson
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.
Ophthalmology 2000;107(12):2256-66.
2000: Lisa M Astuto; Michael D Weston; C A Carney; Denise M Hoover; Cor W R J Cremers; Michiel Wagenaar; CG Moller; Richard J H Smith; S Pieke-Dahl; J Greenberg; Rajkumar Ramesar; SG Jacobson; C Ayuso; John R Heckenlively; M Tamayo; M B Gorin; William Reardon; William J Kimberling
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.
American journal of human genetics 2000;67(6):1569-74.
2000: John R Heckenlively; Amani A Fawzi; J Oversier; B L Jordan; N Aptsiauri
Autoimmune retinopathy: patients with antirecoverin immunoreactivity and panretinal degeneration.
Archives of ophthalmology 2000;118(11):1525-33.
2000: Alan J Mears; Suja Hiriyanna; Raf Vervoort; Beverly M Yashar; L Gieser; S Fahrner; Stephen P Daiger; John R Heckenlively; Paul Sieving; Alan F Wright; Anand Swaroop
Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.
American journal of human genetics 2000;67(4):1000-3.
2000: Anne M Slavotinek; Edwin M Stone; Kirk Mykytyn; John R Heckenlively; J S Green; E Heon; Maria A Musarella; P S Parfrey; Val C Sheffield; Leslie G Biesecker
Mutations in MKKS cause Bardet-Biedl syndrome.
Nature genetics 2000;26(1):15-6.
2000: Norman L Hawes; Bo Chang; G S Hageman; Steven Nusinowitz; Patsy M Nishina; B S Schneider; Richard S Smith; TH Roderick; Muriel T Davisson; John R Heckenlively
Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens.
Investigative ophthalmology & visual science 2000;41(10):3149-57.
2000: Melanie M Sohocki; Isabelle Perrault; Bart P Leroy; Annette M Payne; Sharola Dharmaraj; Shomi S Bhattacharya; Josseline Kaplan; Irene H Maumenee; Robert K Koenekoop; Françoise Meire; David G Birch; John R Heckenlively; Stephen P Daiger
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
Molecular genetics and metabolism 2000;70(2):142-50.
2000: Novrouz B Akhmedov; Natik I Piriev; Bo Chang; A L Rapoport; Norman L Hawes; Patsy M Nishina; Steven Nusinowitz; John R Heckenlively; TH Roderick; CA Kozak; Michael Danciger; Muriel T Davisson; Debora B Farber
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(10):5551-6.
2000: Richard S Smith; Norman L Hawes; Bo Chang; TH Roderick; Ellen C Akeson; John R Heckenlively; X Gong; X Wang; Muriel T Davisson
Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract.
Genomics 2000;63(3):314-20.
2000: Sakae Ikeda; N Shiva; Akihiro Ikeda; Richard S Smith; Steven Nusinowitz; G Yan; T R Lin; S Chu; John R Heckenlively; M A North; Jürgen K Naggert; Patsy M Nishina; M P Duyao
Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene.
Human molecular genetics 2000;9(2):155-63.
2000: Melanie M Sohocki; Sara J Bowne; Lori S Sullivan; Seth Blackshaw; Constance L Cepko; Annette M Payne; Shomi S Bhattacharya; Shagufta Khaliq; S Qasim Mehdi; David G Birch; Wilbur R Harrison; Frederick F Elder; John R Heckenlively; Stephen P Daiger
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
Nature genetics 2000;24(1):79-83.
1999: Steven Nusinowitz; William H Ridder; John R Heckenlively
Rod multifocal electroretinograms in mice.
Investigative ophthalmology & visual science 1999;40(12):2848-58.
1999: Anneke I den Hollander; Jacoline B ten Brink; Yvette J M de Kok; Simone van Soest; L Ingeborgh Van Den Born; MA van Driel; Dorien J R van De Pol; Annette M Payne; S S Bhattacharya; Ulrich Kellner; Carel B Hoyng; A Westerveld; Han G Brunner; EM Bleeker-Wagemakers; August F Deutman; John R Heckenlively; Frans P M Cremers; Arthur A B Bergen
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
Nature genetics 1999;23(2):217-21.
1999: Sara J Bowne; Stephen P Daiger; Matthew M Hims; Melanie M Sohocki; Kimberly A Malone; Arthur B McKie; John R Heckenlively; David G Birch; Chris F Inglehearn; Shomi S Bhattacharya; A Bird; Lori S Sullivan
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Human molecular genetics 1999;8(11):2121-8.
1999: Norman L Hawes; Richard S Smith; Bo Chang; Muriel T Davisson; John R Heckenlively; Simon W M John
Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes.
Molecular vision 1999;5():22.
1999: Bo Chang; Norman L Hawes; TH Roderick; Richard S Smith; John R Heckenlively; J Horwitz; Muriel T Davisson
Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse.
Molecular vision 1999;5():21.
1999: Sandeep Grover; Gerald A Fishman; Robert J Anderson; M S Tozatti; John R Heckenlively; Richard G Weleber; Albert O Edwards; J Brown
Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older.
Ophthalmology 1999;106(9):1780-5.
1999: Yong-Qing Gao; Michael Danciger; R Longmuir; Natik I Piriev; D Y Zhao; John R Heckenlively; Gerald A Fishman; Richard G Weleber; Samuel G Jacobson; Edwin M Stone; Debora B Farber
Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.
Investigative ophthalmology & visual science 1999;40(8):1818-22.
1999: Lori S Sullivan; John R Heckenlively; Sara J Bowne; Jian Zuo; Winston Hide; A Gal; M Denton; Chris F Inglehearn; S Blanton; Stephen P Daiger
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
Nature genetics 1999;22(3):255-9.
1999: John R Heckenlively; B L Jordan; N Aptsiauri
Association of antiretinal antibodies and cystoid macular edema in patients with retinitis pigmentosa.
American journal of ophthalmology 1999;127(5):565-73.
1999: Bo Chang; Richard S Smith; Norman L Hawes; Michael G Anderson; Adriana Zabaleta; Olga V Savinova; TH Roderick; John R Heckenlively; Muriel T Davisson; Simon W M John
Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice.
Nature genetics 1999;21(4):405-9.
1999: Simone van Soest; M J van Rossem; John R Heckenlively; L Ingeborgh Van Den Born; T M de Meulemeester; S Vliex; Paulus T V M de Jong; EM Bleeker-Wagemakers; A Westerveld; Arthur A B Bergen
Integrated genetic and physical map of the 1q31-->q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes.
Cytogenetics and cell genetics 1999;84(1-2):22-7.
1998: Melanie M Sohocki; Lori S Sullivan; HA Mintz-Hittner; David Birch; John R Heckenlively; Carol L Freund-Taylor; Roderick R McInnes; Stephen P Daiger
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
American journal of human genetics 1998;63(5):1307-15.
1998: Yong-Qing Gao; Michael Danciger; Novrouz B Akhmedov; D Y Zhao; John R Heckenlively; Gerald A Fishman; Richard G Weleber; Samuel G Jacobson; Debora B Farber
Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease.
Molecular vision 1998;4():16.
1998: Rita C C Ferreira; John R Heckenlively; J H Menkes; J Bronwyn Bateman
Menkes disease. New ocular and electroretinographic findings.
Ophthalmology 1998;105(6):1076-8.
1998: Simon W M John; Richard S Smith; Olga V Savinova; Norman L Hawes; Bo Chang; Daniel Turnbull; Muriel T Davisson; TH Roderick; John R Heckenlively
Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice.
Investigative ophthalmology & visual science 1998;39(6):951-62.
1997: TH Roderick; Bo Chang; Norman L Hawes; John R Heckenlively
A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse.
Genomics 1997;42(3):393-6.
1996: Bo Chang; Norman L Hawes; Richard S Smith; John R Heckenlively; Muriel T Davisson; TH Roderick
Chromosomal localization of a new mouse lens opacity gene (lop18)
Genomics 1996;36(1):171-3.
1996: Yong-Qing Gao; Michael Danciger; D Y Zhao; J Blaney; Natik I Piriev; J Shih; Samuel G Jacobson; John R Heckenlively; Debora B Farber
Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa.
Experimental eye research 1996;62(2):149-54.
1996: Grazyna Adamus; N Aptsiauri; John Guy; John R Heckenlively; J Flannery; Paul A Hargrave
The occurrence of serum autoantibodies against enolase in cancer-associated retinopathy.
Clinical immunology and immunopathology 1996;78(2):120-9.
1996: Richard S Smith; Norman L Hawes; S D Kuhlmann; John R Heckenlively; Bo Chang; TH Roderick; J P Sundberg
Corn1: a mouse model for corneal surface disease and neovascularization.
Investigative ophthalmology & visual science 1996;37(2):397-404.
1996: T L Kojis; C Heinzmann; Pamela Flodman; J T Ngo; RS Sparkes; M Anne Spence; J B Bateman; John R Heckenlively
Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.
American journal of human genetics 1996;58(2):347-55.
1996: R Y Kim; SD Schwartz; John R Heckenlively; Zdenek J Gregor; Robert J Cooling
Giant retinal tear and retinal detachment with underlying retinitis pigmentosa and hearing loss.
Eye (London, England) 1996;10 ( Pt 6)():697-700.
1996: John R Heckenlively; N Aptsiauri; Steven Nusinowitz; C Peng; P A Hargrave
Investigations of antiretinal antibodies in pigmentary retinopathy and other retinal degenerations.
Transactions of the American Ophthalmological Society 1996;94():179-200; discussion 200-6.
1995: John R Heckenlively; Bo Chang; L C Erway; C Peng; Norman L Hawes; G S Hageman; TH Roderick
Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(24):11100-4.
1995: Michael Danciger; J Blaney; Yong-Qing Gao; D Y Zhao; John R Heckenlively; Samuel G Jacobson; Debora B Farber
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.
Genomics 1995;30(1):1-7.
1995: R A Bascom; L Liu; John R Heckenlively; E M Stone; Roderick R McInnes
Mutation analysis of the ROM1 gene in retinitis pigmentosa.
Human molecular genetics 1995;4(10):1895-902.
1995: R E McGuire; Lori S Sullivan; S Blanton; Michael W Church; John R Heckenlively; Stephen P Daiger
X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.
American journal of human genetics 1995;57(1):87-94.
1994: Gerald A Fishman; E Stone; L D Gilbert; K Vandenburgh; V C Sheffield; John R Heckenlively
Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
Ophthalmology 1994;101(8):1409-21.
1994: Bo Chang; R T Bronson; Norman L Hawes; TH Roderick; C Peng; G S Hageman; John R Heckenlively
Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis.
Investigative ophthalmology & visual science 1994;35(3):1071-6.
1994: John R Heckenlively; T Tanji; S Logani
Retrospective study of hyperabnormal (supranormal) electroretinographic responses in 104 patients.
Transactions of the American Ophthalmological Society 1994;92():217-31; discussion 231-3.
1993: Jeremy Nathans; Irene H Maumenee; E Zrenner; B Sadowski; L T Sharpe; R A Lewis; E Hansen; T Rosenberg; M Schwartz; John R Heckenlively
Genetic heterogeneity among blue-cone monochromats.
American journal of human genetics 1993;53(5):987-1000.
1993: John R Heckenlively
The evolving role of visual electrodiagnostics.
The British journal of ophthalmology 1993;77(7):397-8.
1993: Jennifer P Macke; C M Davenport; Samuel G Jacobson; J C Hennessey; Federico Gonzalez-Fernandez; Brian P Conway; John R Heckenlively; R Palmer; Irene H Maumenee; P Sieving
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.
American journal of human genetics 1993;53(1):80-9.
1993: Bo Chang; John R Heckenlively; Norman L Hawes; TH Roderick
New mouse primary retinal degeneration (rd-3).
Genomics 1993;16(1):45-9.
1992: P E Runge; Norman L Hawes; John R Heckenlively; S H Langley; TH Roderick
Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes.
Investigative ophthalmology & visual science 1992;33(11):3202-8.
1992: A W Cottingham; L A Sadler; S Blanton; M J Wagner; Dan E Wells; John R Heckenlively; Stephen P Daiger
A tight linkage cluster, with two new RFLPs (D8S96 and D8S108), in the interval 8cen-q13.
Nucleic acids research 1992;20(6):1426.
1991: S Blanton; John R Heckenlively; A W Cottingham; J Friedman; L A Sadler; M Wagner; L H Friedman; Stephen P Daiger
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.
Genomics 1991;11(4):857-69.
1991: Debora B Farber; John R Heckenlively; RS Sparkes; J B Bateman
Molecular genetics of retinitis pigmentosa.
The Western journal of medicine 1991;155(4):388-99.
1991: H R McDonald; H Lewis; A E Kreiger; Y Sidikaro; John R Heckenlively
Surgical management of retinal detachment associated with the acute retinal necrosis syndrome.
The British journal of ophthalmology 1991;75(8):455-8.
1991: C H Sung; C M Davenport; J C Hennessey; Irene H Maumenee; Samuel G Jacobson; John R Heckenlively; R Nowakowski; Gerald A Fishman; Peter Gouras; Jeremy Nathans
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(15):6481-5.
1991: John R Heckenlively; J A Rodriguez; S P Daiger
Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.
Archives of ophthalmology 1991;109(1):84-91.
1990: N E Vinton; John R Heckenlively; S A Laidlaw; D A Martin; S R Foxman; M E Ament; Joel D Kopple
Visual function in patients undergoing long-term total parenteral nutrition.
The American journal of clinical nutrition 1990;52(5):895-902.
1990: Mordechai Shohat; Tamy Shohat; David L Rimoin; T Mohandas; John R Heckenlively; R Ellen Magenis; M B Davidson; Julie R Korenberg
Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal mother.
American journal of medical genetics 1990;37(2):173-7.
1990: S Blanton; A W Cottingham; N Giesenschlag; John R Heckenlively; Peter Humphries; Stephen P Daiger
Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q.
Genomics 1990;8(1):179-81.
1989: Gary N Holland; P J Cornell; M S Park; A Barbetti; J Yuge; A E Kreiger; H J Kaplan; Jay Pepose; John R Heckenlively; William W Culbertson
An association between acute retinal necrosis syndrome and HLA-DQw7 and phenotype Bw62, DR4.
American journal of ophthalmology 1989;108(4):370-4.
1989: H Iijima; D A Martin; John R Heckenlively
Autosomal dominant retinitis pigmentosa: a log quotient analysis of the photopic and scotopic b-wave amplitude.
The British journal of ophthalmology 1989;73(5):337-41.
1989: J V Winston; John R Heckenlively; TH Roderick
Screening for mouse retinal degenerations. II. Molossinus MOLC and MOLD strains.
Documenta ophthalmologica. Advances in ophthalmology 1989;71(3):241-52.
1989: John R Heckenlively; J V Winston; TH Roderick
Screening for mouse retinal degenerations. I. Correlation of indirect ophthalmoscopy, electroretinograms, and histology.
Documenta ophthalmologica. Advances in ophthalmology 1989;71(3):229-39.
1989: John R Heckenlively
Genetic subtypes in retinitis pigmentosa.
Archives of ophthalmology 1989;107(1):16.
1988: John R Heckenlively
Abnormal axonemes in X-linked retinitis pigmentosa.
Archives of ophthalmology 1988;106(9):1162.
1988: John R Heckenlively; S L Yoser; L H Friedman; J J Oversier
Clinical findings and common symptoms in retinitis pigmentosa.
American journal of ophthalmology 1988;105(5):504-11.
1988: John R Heckenlively; S G Foxman; E S Parelhoff
Retinal dystrophy and macular coloboma.
Documenta ophthalmologica. Advances in ophthalmology 1988;68(3-4):257-71.
1987: John R Heckenlively
Grid photocoagulation for macular edema in patients with retinitis pigmentosa.
American journal of ophthalmology 1987;104(1):94-5.
1987: N M Newman; R A Stevens; John R Heckenlively
Nerve fibre layer loss in diseases of the outer retinal layer.
The British journal of ophthalmology 1987;71(1):21-6.
1987: John R Heckenlively
RP cone-rod degeneration.
Transactions of the American Ophthalmological Society 1987;85():438-70.
1987: Stephen P Daiger; John R Heckenlively; R A Lewis; Mary Z Pelias
DNA linkage studies of degenerative retinal diseases.
Progress in clinical and biological research 1987;247():147-62.
1986: T P Kingston; N J Lowe; J Winston; John R Heckenlively
Visual and cutaneous toxicity which occurs during N-(4-hydroxyphenyl) retinamide therapy for psoriasis.
Clinical and experimental dermatology 1986;11(6):624-7.
1986: R H Millay; Richard G Weleber; John R Heckenlively
Ophthalmologic and systemic manifestations of Alström's disease.
American journal of ophthalmology 1986;102(4):482-90.
1986: John R Heckenlively; Richard G Weleber
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon.
Archives of ophthalmology 1986;104(9):1322-8.
1986: D T Fazio; John R Heckenlively; D A Martin; R E Christensen
The electroretinogram in advanced open-angle glaucoma.
Documenta ophthalmologica. Advances in ophthalmology 1986;63(1):45-54.
1986: J V Winston; D A Martin; John R Heckenlively
Computer analysis of Farnsworth-Munsell 100-hue test.
Documenta ophthalmologica. Advances in ophthalmology 1986;62(1):61-72.
1986: M E Ament; H S Geggel; John R Heckenlively; D A Martin; J Kopple
Taurine supplementation in infants receiving long-term total parenteral nutrition.
Journal of the American College of Nutrition 1986;5(2):127-35.
1985: John R Heckenlively; A M Solish; S M Chant; R H Meyers-Elliott
Autoimmunity in hereditary retinal degenerations. II. Clinical studies: antiretinal antibodies and fluorescein angiogram findings.
The British journal of ophthalmology 1985;69(10):758-64.
1985: S G Foxman; John R Heckenlively; J B Bateman; J D Wirtschafter
Classification of congenital and early onset retinitis pigmentosa.
Archives of ophthalmology 1985;103(10):1502-6.
1985: S G Foxman; John R Heckenlively; Stephen Hayward Sinclair
Rubeola retinopathy and pigmented paravenous retinochoroidal atrophy.
American journal of ophthalmology 1985;99(5):605-6.
1985: S J Isenberg; John R Heckenlively
Traumatized eye with retinal damage from amniocentesis.
Journal of pediatric ophthalmology and strabismus 1985;22(2):65-7.
1985: H S Geggel; M E Ament; John R Heckenlively; D A Martin; J D Kopple
Nutritional requirement for taurine in patients receiving long-term parenteral nutrition.
The New England journal of medicine 1985;312(3):142-6.
1985: M Crist; John R Heckenlively; L Leigh Field; M C Sparkes; C Farson; M A Spence; R S Sparkes
Glutamate pyruvate transaminase null allele (GPT0) in the Navajo.
Human heredity 1985;35(1):59-61.
1985: S M Chant; John R Heckenlively; R H Meyers-Elliott
Autoimmunity in hereditary retinal degeneration. I. Basic studies.
The British journal of ophthalmology 1985;69(1):19-24.
1984: D S Ellis; John R Heckenlively; C L Martin; R S Lachman; N A Sakati; D L Rimoin
Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).
American journal of ophthalmology 1984;97(2):233-9.
1983: M K Farley; R D Clark; M K Fallor; H S Geggel; John R Heckenlively
Spontaneous carotid-cavernous fistula and the Ehlers-Danlos syndromes.
Ophthalmology 1983;90(11):1337-42.
1983: John R Heckenlively; D A Martin; A L Rosenbaum
Loss of electroretinographic oscillatory potentials, optic atrophy, and dysplasia in congenital stationary night blindness.
American journal of ophthalmology 1983;96(4):526-34.
1982: John R Heckenlively; S J Isenberg; L E Fox
The Rieger syndrome: a heritable disorder associated with glaucoma.
The Johns Hopkins medical journal 1982;151(6):351-5.
1982: K T Meyer; John R Heckenlively; M Spitznas; R Y Foos
Dominant retinitis pigmentosa. A clinicopathologic correlation.
Ophthalmology 1982;89(12):1414-24.
1982: H R Krauss; John R Heckenlively
Visual field changes in cone-rod degenerations.
Archives of ophthalmology 1982;100(11):1784-90.
1982: J V Bastek; John R Heckenlively; B R Straatsma
Cataract surgery in retinitis pigmentosa patients.
Ophthalmology 1982;89(8):880-4.
1982: L Leigh Field; John R Heckenlively; R S Sparkes; C A Garcia; C Farson; D Zedalis; M C Sparkes; M Crist; S Tideman; M A Spence
Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.
Journal of medical genetics 1982;19(4):266-70.
1982: S R Seiff; John R Heckenlively; J T Pearlman
Assessing the risk of retinitis pigmentosa with age-of-onset data.
American journal of ophthalmology 1982;94(1):38-43.
1982: John R Heckenlively
The frequency of posterior subcapsular cataract in the hereditary retinal degenerations.
American journal of ophthalmology 1982;93(6):733-8.
1982: John R Heckenlively
Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.
Birth defects original article series 1982;18(6):193-6.
1982: John R Heckenlively
Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.
The British journal of ophthalmology 1982;66(1):26-30.
1982: John R Heckenlively; J T Pearlman; R S Sparkes; M A Spence; D Zedalis; L Field; M Sparkes; M Crist; S Tideman
Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1.
Ophthalmic research 1982;14(1):46-53.
1981: J V Bastek; R Y Foos; John R Heckenlively
Traumatic pigmentary retinopathy.
American journal of ophthalmology 1981;92(5):621-4.
1981: John R Heckenlively; D A Martin; T O Rosales
Telangiectasia and optic atrophy in cone-rod degenerations.
Archives of ophthalmology 1981;99(11):1983-91.
1981: John R Heckenlively; J V Bastek; J T Pearlman; J Gladden; P Terasaki
HLA typing in retinitis pigmentosa.
The British journal of ophthalmology 1981;65(2):131-2.
1981: John R Heckenlively; R Friederich; C Farson; G Pabalis
Retinitis pigmentosa in the Navajo.
Metabolic and pediatric ophthalmology 1981;5(3-4):201-6.
1981: John R Heckenlively
Retinitis pigmentosa, unilateral Coats's disease, and thalassemia minor--a case report.
Metabolic and pediatric ophthalmology 1981;5(2):67-72.
1981: B R Straatsma; R Y Foos; John R Heckenlively; G N Taylor
Myelinated retinal nerve fibers.
American journal of ophthalmology 1981;91(1):25-38.
1980: John R Heckenlively; D Martin; J Levy
Chloroquine retinopathy.
American journal of ophthalmology 1980;89(1):150-1.
1980: John R Heckenlively
Possible syndrome of high myopia with retinal degeneration, cataract, manic depression, and elevated plasma amino acids.
Metabolic and pediatric ophthalmology 1980;4(3):155-60.
1979: B R Straatsma; John R Heckenlively; R Y Foos; J K Shahinian
Myelinated retinal nerve fibers associated with ipsilateral myopia, amblyopia, and strabismus.
American journal of ophthalmology 1979;88(3 Pt 1):506-10.
1979: John R Heckenlively
Pigmented retinochoroidal atrophy.
American journal of ophthalmology 1979;88(1):136-7.
1979: John R Heckenlively; R Kielar
Congenital perforated cornea in Peter's anomaly.
American journal of ophthalmology 1979;88(1):63-5.
1978: J T Pearlman; John R Heckenlively; J V Bastek
Progressive nature of pigmented paravenous retinochoroidal atrophy.
American journal of ophthalmology 1978;85(2):215-7.
1978: John R Heckenlively; J T Pearlman
Acute macular chorioretinitis associated with scorpion sting: a case report.
Toxicon : official journal of the International Society on Toxinology 1978;16(1):88-91.
1977: M A Spence; R S Sparkes; John R Heckenlively; J T Pearlman; D Zedalis; M Sparkes; M Crist; S Tideman
Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1.
American journal of human genetics 1977;29(4):397-404.
1971: J M Kjeldgaard; G W Hahn; John R Heckenlively; E Genton
Methadone-induced pulmonary edema.
JAMA : the journal of the American Medical Association 1971;218(6):882-3.