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Papers authored by Maumenee I

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Aniridia with Preserved Visual Function: A Report of Four Cases with No Mutations in PAX6.

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Traboulsi EI, Ellison J, Sears J, Maumenee IH, Avallone J, and Mohney BG

American journal of ophthalmology 145(4):760-4, 2008 Apr - Who cited this? | PubMed ID: 18243151 | Fulltext

Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.

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Sundin OH, Dharmaraj S, Bhutto IA, Hasegawa T, McLeod DS, Merges CA, Silval ED, Maumenee IH, and Lutty GA

Ophthalmic genetics 29(1):1-9, 2008 Mar - Who cited this? | PubMed ID: 18363166 | Fulltext

Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays.

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den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP,

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Investigative ophthalmology & visual science 48(12):5690-8, 2007 Dec - Who cited this? | PubMed ID: 18055821 | Fulltext

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

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den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG,

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Nature genetics 39(7):889-95, 2007 Jul - Who cited this? | PubMed ID: 17546029 | Fulltext

Juvenile cataracts in a patient with histidinuria: case report.

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Santacana-Laffitte G, Izquierdo NJ, Lladó JR, and Maumenee IH

Ophthalmic genetics 27(4):161-3, 2006 Dec - Who cited this? | PubMed ID: 17148044 | Fulltext

Delivery from episcleral exoplants.

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Pontes de Carvalho RA, Krausse ML, Murphree AL, Schmitt EE, Campochiaro PA, and Maumenee IH

Investigative ophthalmology & visual science 47(10):4532, 2006 Oct - Who cited this? | PubMed ID: 17003449 | Fulltext

A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

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Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, and Sundin O

Ophthalmic genetics 27(1):15-20, 2006 Mar - Who cited this? | PubMed ID: 16543197 | Fulltext

Unilateral isolated microphthalmia inherited as an autosomal recessive trait.

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Fleckenstein M and Maumenee IH

Ophthalmic genetics 26(4):163-8, 2005 Dec - Who cited this? | PubMed ID: 16352476 | Fulltext

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

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Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, and Traboulsi EI

American journal of medical genetics. Part A 138(2):95-8, 2005 Oct 1 - Who cited this? | PubMed ID: 16145681 | Fulltext

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

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Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, and Sieving PA

Investigative ophthalmology & visual science 46(9):3363, 2005 Sep - Who cited this? | PubMed ID: 16123441 | Fulltext

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

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Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, and Allikmets R

Investigative ophthalmology & visual science 46(9):3052-9, 2005 Sep - Who cited this? | PubMed ID: 16123401 | Fulltext

Posterior polar cataract: genetic analysis of a large family.

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Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, and Sundin O

Ophthalmic genetics 26(3):125-30, 2005 Sep - Who cited this? | PubMed ID: 16272057 | Fulltext

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.

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Sundin OH, Leppert GS, Silva ED, Yang JM, Dharmaraj S, Maumenee IH, Santos LC, Parsa CF, Traboulsi EI, Broman KW, Dibernardo C, Sunness JS, Toy J, and Weinberg EM

Proceedings of the National Academy of Sciences of the United States of America 102(27):9553, 2005 Jul 5 - Who cited this? | PubMed ID: 15976030 | Fulltext

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

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Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, and Maumenee I

Ophthalmic genetics 25(3):205-17, 2004 Sep - Who cited this? | PubMed ID: 15512997 | Fulltext

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

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Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS,

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Archives of ophthalmology 122(7):1029-37, 2004 Jul - Who cited this? | PubMed ID: 15249368 | Fulltext

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

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Tucker CL, Ramamurthy V, Pina AL, Loyer M, Dharmaraj S, Li Y, Maumenee IH, Hurley JB, and Koenekoop RK

Molecular vision 10:297-303, 2004 Apr 20 - Who cited this? | PubMed ID: 15123990 | Fulltext

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

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Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D,

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Human mutation 21(6):656, 2003 Jun - Who cited this? | PubMed ID: 14961560 | Fulltext

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

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Keen TJ, Mohamed MD, McKibbin M, Rashid Y, Jafri H, Maumenee IH, and Inglehearn CF

European journal of human genetics : EJHG 11(5):420-3, 2003 May - Who cited this? | PubMed ID: 12734549 | Fulltext

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

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Koenekoop RK, Fishman GA, Iannaccone A, Ezzeldin H, Ciccarelli ML, Baldi A, Sunness JS, Lotery AJ, Jablonski MM, Pittler SJ, and Maumenee I

Archives of ophthalmology 120(10):1325-30, 2002 Oct - Who cited this? | PubMed ID: 12365911 | Fulltext

Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1).

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Kerrison JB, Giorda R, Lenart TD, Drack AV, and Maumenee IH

Ophthalmic genetics 22(4):241-8, 2001 Dec - Who cited this? | PubMed ID: 11803490 | Fulltext

The ateliotic macula: a newly recognized developmental anomaly.

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De Pool ME, el-Hileli H, and Maumenee IH

Transactions of the American Ophthalmological Society 99:89-93; discussion 94, 2001 - Who cited this? | PubMed ID: 11797324 | Fulltext

A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy.

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Kerrison JB, Miller NR, Hsu F, Beaty TH, Maumenee IH, Smith KH, Savino PJ, Stone EM, and Newman NJ

American journal of ophthalmology 130(6):803-12, 2000 Dec - Who cited this? | PubMed ID: 11124301 | Fulltext

Mutational analysis and clinical correlation in Leber congenital amaurosis.

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Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, and Maumenee IH

Ophthalmic genetics 21(3):135-50, 2000 Sep - Who cited this? | PubMed ID: 11035546 | Fulltext

Genetic basis of total colourblindness among the Pingelapese islanders.

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Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, and Maumenee IH

Nature genetics 25(3):289-93, 2000 Jul - Who cited this? | PubMed ID: 10888875 | Fulltext

A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.

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Silva E, Yang JM, Li Y, Dharmaraj S, Sundin OH, and Maumenee IH

Investigative ophthalmology & visual science 41(8):2076-9, 2000 Jul - Who cited this? | PubMed ID: 10892846 | Fulltext

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

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Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, and Daiger SP

Molecular genetics and metabolism 70(2):142-50, 2000 Jun - Who cited this? | PubMed ID: 10873396 | Fulltext

Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis.

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Traboulsi EI, Whittum-Hudson JA, Mir SH, and Maumenee IH

Ophthalmic genetics 21(1):9-15, 2000 Mar - Who cited this? | PubMed ID: 10779844 | Fulltext

A novel locus for Leber congenital amaurosis maps to chromosome 6q.

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Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, and Maumenee IH

American journal of human genetics 66(1):319-26, 2000 Jan - Who cited this? | PubMed ID: 10631161 | Fulltext

Retinal detachment in Marfan syndrome.

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Loewenstein A, Barequet IS, De Juan E, and Maumenee IH

Retina (Philadelphia, Pa.) 20(4):358-63, 2000 - Who cited this? | PubMed ID: 10950412 | Fulltext

Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome.

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Rowe PC, Barron DF, Calkins H, Maumenee IH, Tong PY, and Geraghty MT

The Journal of pediatrics 135(4):494-9, 1999 Oct - Who cited this? | PubMed ID: 10518084 | Fulltext

Ehlers-Danlos syndrome.

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Rowe PC, Barron DF, Calkins H, Maumenee IH, Tong PY, and Geraghty MT

The Journal of pediatrics 135(4):513, 1999 Oct - Who cited this? | PubMed ID: 10518087 | Fulltext

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

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Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, and Jabs EW

American journal of medical genetics 85(2):160-70, 1999 Jul 16 - Who cited this? | PubMed ID: 10406670 | Fulltext

Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis.

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Koenekoop R, Pina AL, Loyer M, Davidson J, Robitaille J, Maumenee I, and Tombran-Tink J

Molecular vision 5:10, 1999 Jul 2 - Who cited this? | PubMed ID: 10398730 | Fulltext

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

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Kerrison JB, Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, Zhu D, and Maumenee IH

Archives of ophthalmology 117(6):805, 1999 Jun - Who cited this? | PubMed ID: 10369594 | Fulltext

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.

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Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, and Ayyagari R

Genomics 58(1):98-101, 1999 May 15 - Who cited this? | PubMed ID: 10331951 | Fulltext

Congenital motor nystagmus linked to Xq26-q27.

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Kerrison JB, Vagefi MR, Barmada MM, and Maumenee IH

American journal of human genetics 64(2):600-7, 1999 Feb - Who cited this? | PubMed ID: 9973299 | Fulltext

Hereditary macular diseases.

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Kelly J and Maumenee IH

International ophthalmology clinics 39(4):83-115, 1999 - Who cited this? | PubMed ID: 10709584 | Fulltext

Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).

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Gehrig A, Felbor U, Kelsell RE, Hunt DM, Maumenee IH, and Weber BH

Journal of medical genetics 35(8):641-5, 1998 Aug - Who cited this? | PubMed ID: 9719369 | Fulltext

Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12.

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Kerrison JB, Koenekoop RK, Arnould VJ, Zee D, and Maumenee IH

American journal of ophthalmology 125(1):64-70, 1998 Jan - Who cited this? | PubMed ID: 9437315 | Fulltext

Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome.

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Cunningham ET, Eliott D, Miller NR, Maumenee IH, and Green WR

Archives of ophthalmology 116(1):78-82, 1998 Jan - Who cited this? | PubMed ID: 9445211 | Fulltext

Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs.

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Parsa CF, Cheeseman EW, and Maumenee IH

Transactions of the American Ophthalmological Society 96:95-106; discussion 106-9, 1998 - Who cited this? | PubMed ID: 10360284 | Fulltext

Neuro-ophthalmic genetics.

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Kerrison JB and Maumenee IH

Current opinion in ophthalmology 8(6):35-40, 1997 Dec - Who cited this? | PubMed ID: 10176101 | Fulltext

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.

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Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, and Maumenee IH

Human molecular genetics 6(5):665-8, 1997 May - Who cited this? | PubMed ID: 9158139 | Fulltext

A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22.

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Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrien E, Maumenee I, and Litt M

Genomics 35(3):539-42, 1996 Aug 1 - Who cited this? | PubMed ID: 8812489 | Fulltext

A gene for autosomal dominant congenital nystagmus localizes to 6p12.

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Kerrison JB, Arnould VJ, Barmada MM, Koenekoop RK, Schmeckpeper BJ, and Maumenee IH

Genomics 33(3):523-6, 1996 May 1 - Who cited this? | PubMed ID: 8661013 | Fulltext

The Castroviejo square graft.

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Haselwood DM, Lesko WS, Maumenee IH, Stark WJ, and Green WR

Ophthalmic surgery and lasers 27(2):127-32, 1996 Feb - Who cited this? | PubMed ID: 8640435 | Fulltext

Photoaversion in Leber's congenital amaurosis.

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Traboulsi EI and Maumenee IH

Ophthalmic genetics 16(1):27-30, 1995 Mar - Who cited this? | PubMed ID: 7648040 | Fulltext

Immunohistochemical localization of fibrillin in human ocular tissues. Relevance to the Marfan syndrome.

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Wheatley HM, Traboulsi EI, Flowers BE, Maumenee IH, Azar D, Pyeritz RE, and Whittum-Hudson JA

Archives of ophthalmology 113(1):103-9, 1995 Jan - Who cited this? | PubMed ID: 7826283 | Fulltext

Effects of strabismus surgery on refraction in children.

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Denis D, Bardot J, Volot F, Saracco JB, and Maumenee IH

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 209(3):136-40, 1995 - Who cited this? | PubMed ID: 7630620 | Fulltext

Ocular findings in trigonocephaly.

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Denis D, Genitori L, Bardot J, Saracco JB, Choux M, and Maumenee IH

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 232(12):728-33, 1994 Dec - Who cited this? | PubMed ID: 7890186 | Fulltext

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