| Year |
Citation |
Score |
| 2023 |
Oh JK, Levi SR, de Carvalho JRL, Abdelhakim AH, Hirano M, Maumenee IH, Tsang SH. Venous Tortuosity in -Associated Gould Syndrome. Ophthalmic Surgery, Lasers & Imaging Retina. 1-4. PMID 37642429 DOI: 10.3928/23258160-20230811-01 |
0.333 |
|
| 2019 |
Ragi SD, Lima de Carvalho JR, Tanaka AJ, Park KS, Mahajan VB, Maumenee IH, Tsang SH. Compound heterozygous novel frameshift variants in the gene result in Leber congenital amaurosis. Cold Spring Harbor Molecular Case Studies. 5. PMID 31836589 DOI: 10.1101/mcs.a004481 |
0.329 |
|
| 2017 |
Ali MH, Azar NF, Aakalu V, Chau FY, Abbasian J, Setabutr P, Maumenee IH. Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. Ophthalmic Genetics. 1-4. PMID 29199884 DOI: 10.1080/13816810.2017.1408850 |
0.402 |
|
| 2017 |
Kinori M, Wehrli S, Kassem IS, Azar NF, Maumenee IH, Mets MB. Biometry characteristics in adults and children with Marfan syndrome - From the Marfan Eye Consortium of Chicago. American Journal of Ophthalmology. PMID 28257833 DOI: 10.1016/J.Ajo.2017.02.022 |
0.309 |
|
| 2017 |
Xu W, Kurup SP, Fawzi AA, Durbin MK, Maumenee IH, Mets MB. Comparative data on SD-OCT for a retinal nerve fiber layer and retinal macular thickness in a large cohort with Marfan syndrome. Ophthalmic Genetics. 1-5. PMID 28095089 DOI: 10.1080/13816810.2016.1275017 |
0.368 |
|
| 2015 |
Rahmani S, Lyon AT, Fawzi AA, Maumenee IH, Mets MB. Retinal Disease in Marfan Syndrome: From the Marfan Eye Consortium of Chicago. Ophthalmic Surgery, Lasers & Imaging Retina. 46: 936-41. PMID 26469233 DOI: 10.3928/23258160-20151008-06 |
0.425 |
|
| 2015 |
Beleggia F, Li Y, Fan J, Elcio?lu NH, Toker E, Wieland T, Maumenee IH, Akarsu NA, Meitinger T, Strom TM, Lang R, Wollnik B. CRIM1 haploinsufficiency causes defects in eye development in human and mouse. Human Molecular Genetics. 24: 2267-73. PMID 25561690 DOI: 10.1093/Hmg/Ddu744 |
0.416 |
|
| 2014 |
Li Y, Wu WH, Hsu CW, Nguyen HV, Tsai YT, Chan L, Nagasaki T, Maumenee IH, Yannuzzi LA, Hoang QV, Hua H, Egli D, Tsang SH. Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects. Molecular Therapy : the Journal of the American Society of Gene Therapy. 22: 1688-97. PMID 24895994 DOI: 10.1038/Mt.2014.100 |
0.346 |
|
| 2013 |
Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP. Systemic diagnostic testing in patients with apparently isolated uveal coloboma. American Journal of Ophthalmology. 156: 1159-1168.e4. PMID 24012100 DOI: 10.1016/J.Ajo.2013.06.037 |
0.367 |
|
| 2010 |
Li F, Batista DA, Maumenee I, Wang T. An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism. American Journal of Medical Genetics. Part A. 1318-21. PMID 20425844 DOI: 10.1002/Ajmg.A.33355 |
0.302 |
|
| 2008 |
Sundin OH, Dharmaraj S, Bhutto IA, Hasegawa T, McLeod DS, Merges CA, Silval ED, Maumenee IH, Lutty GA. Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization. Ophthalmic Genetics. 29: 1-9. PMID 18363166 DOI: 10.1080/13816810701651241 |
0.409 |
|
| 2008 |
Traboulsi EI, Ellison J, Sears J, Maumenee IH, Avallone J, Mohney BG. Aniridia with preserved visual function: a report of four cases with no mutations in PAX6. American Journal of Ophthalmology. 145: 760-4. PMID 18243151 DOI: 10.1016/J.Ajo.2007.12.012 |
0.35 |
|
| 2007 |
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, et al. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Investigative Ophthalmology & Visual Science. 48: 5690-8. PMID 18055821 DOI: 10.1167/Iovs.07-0610 |
0.41 |
|
| 2007 |
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, ... ... Maumenee IH, et al. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nature Genetics. 39: 889-95. PMID 17546029 DOI: 10.1038/Ng2066 |
0.468 |
|
| 2006 |
Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. Ophthalmic Genetics. 27: 15-20. PMID 16543197 DOI: 10.1080/13816810500481840 |
0.402 |
|
| 2005 |
Fleckenstein M, Maumenee IH. Unilateral isolated microphthalmia inherited as an autosomal recessive trait Ophthalmic Genetics. 26: 163-168. PMID 16352476 DOI: 10.1080/13816810500468672 |
0.365 |
|
| 2005 |
Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O. Posterior polar cataract: genetic analysis of a large family. Ophthalmic Genetics. 26: 125-30. PMID 16272057 DOI: 10.1080/13816810500229124 |
0.667 |
|
| 2005 |
Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. American Journal of Medical Genetics. Part A. 138: 95-8. PMID 16145681 DOI: 10.1002/Ajmg.A.30803 |
0.381 |
|
| 2005 |
Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Investigative Ophthalmology & Visual Science. 46: 3363-71. PMID 16123441 DOI: 10.1167/Iovs.05-0159 |
0.448 |
|
| 2005 |
Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Investigative Ophthalmology & Visual Science. 46: 3052-9. PMID 16123401 DOI: 10.1167/Iovs.05-0111 |
0.424 |
|
| 2005 |
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, Weinberg EM. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proceedings of the National Academy of Sciences of the United States of America. 102: 9553-8. PMID 15976030 DOI: 10.1073/Pnas.0501451102 |
0.433 |
|
| 2004 |
Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, Maumenee I. A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis. Ophthalmic Genetics. 25: 205-17. PMID 15512997 DOI: 10.1080/13816810490513451 |
0.415 |
|
| 2004 |
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, ... ... Maumenee IH, et al. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Archives of Ophthalmology (Chicago, Ill. : 1960). 122: 1029-37. PMID 15249368 DOI: 10.1001/Archopht.122.7.1029 |
0.367 |
|
| 2003 |
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, et al. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Human Mutation. 21: 656-656. PMID 14961560 DOI: 10.1002/Humu.9152 |
0.36 |
|
| 2003 |
Keen TJ, Mohamed MD, McKibbin M, Rashid Y, Jafri H, Maumenee IH, Inglehearn CF. Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. European Journal of Human Genetics : Ejhg. 11: 420-3. PMID 12734549 DOI: 10.1038/Sj.Ejhg.5200981 |
0.441 |
|
| 2003 |
Udar N, Yelchits S, Chalukya M, Yellore V, Nusinowitz S, Silva-Garcia R, Vrabec T, Maumenee IH, Donoso L, Small KW. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. Human Mutation. 21: 170-171. PMID 12552567 DOI: 10.1002/Humu.9109 |
0.403 |
|
| 2002 |
Koenekoop RK, Fishman GA, Iannaccone A, Ezzeldin H, Ciccarelli ML, Baldi A, Sunness JS, Lotery AJ, Jablonski MM, Pittler SJ, Maumenee I. Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. Archives of Ophthalmology (Chicago, Ill. : 1960). 120: 1325-30. PMID 12365911 DOI: 10.1001/Archopht.120.10.1325 |
0.378 |
|
| 2001 |
Kerrison JB, Giorda R, Lenart TD, Drack AV, Maumenee IH. Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1) Ophthalmic Genetics. 22: 241-248. PMID 11803490 DOI: 10.1076/Opge.22.4.241.2216 |
0.395 |
|
| 2000 |
Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH. Genetic basis of total colourblindness among the Pingelapese islanders. Nature Genetics. 25: 289-93. PMID 10888875 DOI: 10.1038/77162 |
0.617 |
|
| 2000 |
Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Molecular Genetics and Metabolism. 70: 142-50. PMID 10873396 DOI: 10.1006/Mgme.2000.3001 |
0.468 |
|
| 2000 |
Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH. A novel locus for Leber congenital amaurosis maps to chromosome 6q. American Journal of Human Genetics. 66: 319-26. PMID 10631161 DOI: 10.1086/302719 |
0.668 |
|
| 2000 |
Dharmaraj S, Silva E, Pina AL, Li YY, Yang J, Carter RC, Loyer M, El-Hilali H, Traboulsi E, Sundin O, Zhu D, Koenekoop RK, Maumenee IH. Mutational analysis and clinical correlation in Leber congenital amaurosis. Ophthalmic Genetics. 21: 135-150. DOI: 10.1076/1381-6810(200009)2131-Zft135 |
0.452 |
|
| 1999 |
Rowe PC, Barron DE, Calkins H, Maumenee IH, Tong PY, Geraghty MT. Ehlers-Danlos syndrome Journal of Pediatrics. 135: 513. PMID 10518087 DOI: 10.1016/S0022-3476(99)70176-9 |
0.309 |
|
| 1999 |
Rowe PC, Barron DF, Calkins H, Maumenee IH, Tong PY, Geraghty MT. Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome Journal of Pediatrics. 135: 494-499. PMID 10518084 DOI: 10.1016/S0022-3476(99)70173-3 |
0.33 |
|
| 1999 |
Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. American Journal of Medical Genetics. 85: 160-70. PMID 10406670 DOI: 10.1002/(Sici)1096-8628(19990716)85:2<160::Aid-Ajmg11>3.0.Co;2-R |
0.423 |
|
| 1999 |
Kerrison JB, Arnould VJ, Sallum JMF, Vagefi MR, Barmada MM, Li Y, Zhu D, Maumenee IH. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Archives of Ophthalmology. 117: 805-810. PMID 10369594 DOI: 10.1001/Archopht.117.6.805 |
0.417 |
|
| 1999 |
Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics. 58: 98-101. PMID 10331951 DOI: 10.1006/Geno.1999.5808 |
0.377 |
|
| 1999 |
Kerrison JB, Vagefi MR, Barmada MM, Maumenee IH. Congenital motor nystagmus linked to Xq26-q27. American Journal of Human Genetics. 64: 600-7. PMID 9973299 DOI: 10.1086/302244 |
0.331 |
|
| 1998 |
Gehrig A, Felbor U, Kelsell RE, Hunt DM, Maumenee IH, Weber BH. 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). Journal of Medical Genetics. 35: 641-5. PMID 9719369 DOI: 10.1136/jmg.35.8.641 |
0.346 |
|
| 1998 |
Cunningham ET, Eliott D, Miller NR, Maumenee IH, Green WR. Familial Axenfeld-Rieger Anomaly, Atrial Septal Defect, and Sensorineural Hearing Loss: A Possible New Genetic Syndrome Archives of Ophthalmology. 116: 78-82. PMID 9445211 DOI: 10.1001/Archopht.116.1.78 |
0.424 |
|
| 1998 |
Kerrison JB, Koenekoop RK, Arnould VJ, Zee D, Maumenee IH. Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12. American Journal of Ophthalmology. 125: 64-70. PMID 9437315 DOI: 10.1016/S0002-9394(99)80236-0 |
0.346 |
|
| 1997 |
Kerrison JB, Maumenee IH. Neuro-ophthalmic genetics. Current Opinion in Ophthalmology. 8: 35-40. PMID 10176101 DOI: 10.1097/00055735-199712000-00006 |
0.359 |
|
| 1997 |
Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Human Molecular Genetics. 6: 665-8. PMID 9158139 DOI: 10.1093/Hmg/6.5.665 |
0.682 |
|
| 1996 |
Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrien E, Maumenee I, Litt M. A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. Genomics. 35: 539-42. PMID 8812489 DOI: 10.1006/Geno.1996.0395 |
0.668 |
|
| 1996 |
Kerrison JB, Arnould VJ, Barmada MM, Koenekoop RK, Schmeckpeper BJ, Maumenee IH. A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12 Genomics. 33: 523-526. PMID 8661013 DOI: 10.1006/Geno.1996.0229 |
0.433 |
|
| 1995 |
Traboulsi EI, Maumenee IH. Photoaversion in Leber's congenital amaurosis. Ophthalmic Genetics. 16: 27-30. PMID 7648040 DOI: 10.3109/13816819509057851 |
0.398 |
|
| 1994 |
Gollamudi SR, Traboulsi EI, Chamon W, Stark WJ, Maumenee IH. Visual outcome after surgery for Peters' anomaly. Ophthalmic Genetics. 15: 31-5. PMID 7953250 DOI: 10.3109/13816819409056908 |
0.353 |
|
| 1994 |
Denis D, Genitori L, Bardot J, Saracco JB, Choux M, Maumenee IH. Ocular findings in trigonocephaly. Graefes Archive For Clinical and Experimental Ophthalmology. 232: 728-733. PMID 7890186 DOI: 10.1007/Bf00184275 |
0.302 |
|
| 1993 |
Eliott D, Traboulsi EI, Maumenee IH. Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type) American Journal of Ophthalmology. 115: 360-367. PMID 8442497 DOI: 10.1016/S0002-9394(14)73589-5 |
0.367 |
|
| 1993 |
Chang TS, Johns DR, Walker D, Cruz Zdl, Maumenee IH, Green WR. Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes. Archives of Ophthalmology. 111: 1254-1262. PMID 8363469 DOI: 10.1001/Archopht.1993.01090090106028 |
0.355 |
|
| 1993 |
Izquierdo NJ, Maumenee IH, Traboulsi EI. Anterior segment malformations in 18q-(de grouchy) syndrome Ophthalmic Genetics. 14: 91-94. PMID 8233359 DOI: 10.3109/13816819309042909 |
0.372 |
|
| 1992 |
Drack AV, Traboulsi EI, Maumenee IH. Progression of Retinopathy in Olivopontocerebellar Atrophy With Retinal Degeneration Archives of Ophthalmology. 110: 712-713. PMID 1580852 DOI: 10.1001/Archopht.1992.01080170134041 |
0.361 |
|
| 1992 |
Maumenee IH. The Marfan syndrome is caused by a point mutation in the fibrillin gene. Archives of Ophthalmology. 110: 472-473. PMID 1562249 DOI: 10.1001/Archopht.1992.01080160050027 |
0.38 |
|
| 1992 |
Heher KL, Traboulsi EI, Maumenee IH. The Natural History of Leber's Congenital Amoaurosis: Age-related Findings in 35 Patients Ophthalmology. 99: 241-245. PMID 1553215 DOI: 10.1016/S0161-6420(92)31985-2 |
0.388 |
|
| 1992 |
Traboulsi EI, Silva JC, Geraghty MT, Maumenee IH, Valle D, Green WR. Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria American Journal of Ophthalmology. 113: 269-280. PMID 1543219 DOI: 10.1016/S0002-9394(14)71578-8 |
0.36 |
|
| 1992 |
Bleik JH, Traboulsi EI, Maumenee IH. Familial posterior lenticonus and microcornea. Archives of Ophthalmology. 110: 1208-1208. PMID 1520103 DOI: 10.1001/Archopht.1992.01080210026011 |
0.416 |
|
| 1992 |
Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. Archives of Ophthalmology. 110: 1739-1742. PMID 1463415 DOI: 10.1001/Archopht.1992.01080240079035 |
0.398 |
|
| 1992 |
Traboulsi EI, Becker ID, Maumenee IH. Ocular findings in Cockayne syndrome. American Journal of Ophthalmology. 114: 579-583. PMID 1443019 DOI: 10.1016/S0002-9394(14)74486-1 |
0.425 |
|
| 1992 |
Collins FA, Murphy DL, Reiss AL, Sims KB, Lewis JG, Freund L, Karoum F, Zhu D, Maumenee IH, Antonarakis SE. Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. American Journal of Medical Genetics. 42: 127-34. PMID 1308352 DOI: 10.1002/Ajmg.1320420126 |
0.388 |
|
| 1991 |
Del Monte MA, Maumenee IH, Edwards RB. Glycosaminoglycan degradation by cultured retinal pigment epithelium from patients with retinitis pigmentosa Current Eye Research. 10: 241-248. PMID 1904340 DOI: 10.3109/02713689109003446 |
0.39 |
|
| 1991 |
Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, Nowakowski R, Fishman G, Gouras P, Nathans J. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences of the United States of America. 88: 6481-5. PMID 1862076 DOI: 10.1073/Pnas.88.15.6481 |
0.406 |
|
| 1991 |
Giardiello FM, Offerhaus GJ, Traboulsi EI, Graybeal JC, Maumenee IH, Krush AJ, Levin LS, Booker SV, Hamilton SR. Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis. Gut. 32: 1170-1174. PMID 1659551 DOI: 10.1136/Gut.32.10.1170 |
0.385 |
|
| 1990 |
Lopez PF, Maumenee IH, Cruz Zdl, Green WR. Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation. Ophthalmology. 97: 798-809. PMID 2374685 DOI: 10.1016/S0161-6420(90)32508-3 |
0.38 |
|
| 1990 |
Bodker FS, Lavery MA, Mitchell TN, Lovrien EW, Maumenee IH. Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts. American Journal of Medical Genetics. 37: 54-9. PMID 2240043 DOI: 10.1002/Ajmg.1320370113 |
0.654 |
|
| 1990 |
Traboulsi EI, Murphy SF, de la Cruz ZC, Maumenee IH, Green WR. A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome). American Journal of Ophthalmology. 110: 550-61. PMID 2173407 DOI: 10.1016/S0002-9394(14)77880-8 |
0.435 |
|
| 1990 |
Traboulsi EI, Maumenee IH, Krush AJ, Alcorn D, Giardiello FM, Burt RW, Hughes JP, Hamilton SR. Congenital Hypertrophy of the Retinal Pigment Epithelium Predicts Colorectal Polyposis in Gardner's Syndrome Archives of Ophthalmology. 108: 525-526. PMID 2157384 DOI: 10.1001/Archopht.1990.01070060073052 |
0.427 |
|
| 1990 |
Iwamoto M, Nawa Y, Maumenee IH, Young-Ramsaran J, Matalon R, Green WR. Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A) Graefes Archive For Clinical and Experimental Ophthalmology. 228: 342-349. PMID 2119328 DOI: 10.1007/Bf00920060 |
0.382 |
|
| 1990 |
Zhu D, Alcorn DM, Antonarakis SE, Levin LS, Huang PC, Mitchell TN, Warren AC, Maumenee IH. Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. Human Genetics. 86: 54-8. PMID 1979306 DOI: 10.1007/Bf00205172 |
0.645 |
|
| 1989 |
Maguire AM, Maumenee IH. Iris pigment mosaicism in carriers of X-linked ocular albinism cum pigmento. American Journal of Ophthalmology. 107: 298-299. PMID 2923159 DOI: 10.1016/0002-9394(89)90319-X |
0.302 |
|
| 1989 |
Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F. Molecular genetics of human blue cone monochromacy. Science (New York, N.Y.). 245: 831-8. PMID 2788922 DOI: 10.1126/Science.2788922 |
0.373 |
|
| 1989 |
Zhu D, Antonarakis SE, Schmeckpeper BJ, Diergaarde PJ, Greb AE, Maumenee IH. Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease. American Journal of Medical Genetics. 33: 485-488. PMID 2596510 DOI: 10.1002/Ajmg.1320330415 |
0.381 |
|
| 1988 |
Traboulsi EI, Lenz W, Gonzales-Ramos M, Siegel J, Macrae WG, Maumenee IH. The Lenz microphthalmia syndrome. American Journal of Ophthalmology. 105: 40-5. PMID 3276203 DOI: 10.1016/0002-9394(88)90119-5 |
0.348 |
|
| 1988 |
Traboulsi EI, O'Neill JF, Maumenee IH. Autosomal Recessive Pericentral Pigmentary Retinopathy American Journal of Ophthalmology. 106: 551-556. PMID 3189470 DOI: 10.1016/0002-9394(88)90584-3 |
0.427 |
|
| 1988 |
Traboulsi EI, Maumenee IH, Krush AJ, Giardiello FM, Levin LS, Hamilton SR. Pigmented ocular fundus lesions in the inherited gastrointestinal polyposis syndromes and in hereditary nonpolyposis colorectal cancer. Ophthalmology. 95: 964-969. PMID 2845322 DOI: 10.1016/S0161-6420(88)33093-9 |
0.392 |
|
| 1987 |
Traboulsi EI, Krush AJ, Gardner EJ, Booker SV, Offerhaus GJA, Yardley JH, Hamilton SR, Luk GD, Giardiello FM, Welsh SB, Hughes JP, Maumenee IH. Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. The New England Journal of Medicine. 316: 661-667. PMID 3821797 DOI: 10.1056/Nejm198703123161104 |
0.361 |
|
| 1987 |
Traboulsi EI, Maumenee IH. Bilateral melanosis of the iris. American Journal of Ophthalmology. 103: 115-116. PMID 3799782 DOI: 10.1016/S0002-9394(14)74189-3 |
0.314 |
|
| 1987 |
Reese PD, Tuck-Muller CM, Maumenee IH. Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)]. Archives of Ophthalmology. 105: 1382-1384. PMID 3662912 DOI: 10.1001/Archopht.1987.01060100084032 |
0.337 |
|
| 1987 |
Traboulsi EI, Maumenee IH. Ophthalmologic Manifestations of X-linked Childhood Adrenoleulcodystrophy Ophthalmology. 94: 47-52. PMID 3561956 DOI: 10.1016/S0161-6420(87)33504-3 |
0.384 |
|
| 1987 |
Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics. 1: 293-296. PMID 2896625 DOI: 10.1016/0888-7543(87)90027-9 |
0.407 |
|
| 1987 |
Traboulsi EI, Drush AJ, Gardner EJ, Booker SV, Offerhaus GJA, Yardley JH, Hamilton SR, Luk GD, Giardiello FM, Welsh SB, Hughes JP, Maumenee IH. Prevalence and Importance of Pigmented Ocular Fundus Lesions in Gardner??s Syndrome Retina-the Journal of Retinal and Vitreous Diseases. 7: 204. DOI: 10.1097/00006982-198700730-00012 |
0.311 |
|
| 1987 |
Mets MB, Schroeder RP, Maumenee IH. Diagnostic Criteria for Leber's Congenital Amaurosis-Reply Archives of Ophthalmology. 105: 1320-1321. DOI: 10.1001/Archopht.1987.01060100021009 |
0.309 |
|
| 1986 |
McDonnell PJ, Kivlin JD, Maumenee IH, Green WR. Fundus Flavimaculatus without Maculopathy: A Clinicopathologic Study Ophthalmology. 93: 116-119. PMID 3951808 DOI: 10.1016/S0161-6420(86)33783-7 |
0.368 |
|
| 1986 |
Traboulsi EI, Maumenee IH. Hereditary pigmented paravenous chorioretinal atrophy. Archives of Ophthalmology. 104: 1636-1640. PMID 3778279 DOI: 10.1001/Archopht.1986.01050230074036 |
0.439 |
|
| 1986 |
Traboulsi EI, Maumenee IH. Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). American Journal of Ophthalmology. 102: 592-597. PMID 3777077 DOI: 10.1016/0002-9394(86)90529-5 |
0.382 |
|
| 1986 |
Traboulsi EI, Maumenee IH. Periocular pigmentation in the Peutz-Jeghers syndrome. American Journal of Ophthalmology. 102: 126-127. PMID 3728618 DOI: 10.1016/0002-9394(86)90229-1 |
0.333 |
|
| 1986 |
Newsome DA, Stark WJ, Maumenee IH. Cataract extraction and intraocular lens implantation in patients with retinitis pigmentosa or Usher's syndrome. Archives of Ophthalmology (Chicago, Ill. : 1960). 104: 852-4. PMID 3718309 DOI: 10.1001/Archopht.1986.01050180086036 |
0.369 |
|
| 1986 |
Traboulsi EI, Maumenee IH. Extraocular muscle aplasia in Moebius syndrome. Journal of Pediatric Ophthalmology & Strabismus. 23: 120-122. DOI: 10.3928/0191-3913-19860501-05 |
0.318 |
|
| 1985 |
Maumenee IH, Traboulsi EI. The Ocular Findings in Kniest Dysplasia American Journal of Ophthalmology. 100: 155-160. PMID 4014370 DOI: 10.1016/S0002-9394(14)74998-0 |
0.356 |
|
| 1985 |
Palmer M, Green WR, Maumenee IH, Valle DL, Singer HS, Morton SJ, Moser HW. Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies. Archives of Ophthalmology (Chicago, Ill. : 1960). 103: 817-22. PMID 4004622 DOI: 10.1001/Archopht.1985.01050060077030 |
0.335 |
|
| 1985 |
Cavenee WK, Hansen MF, Nordenskjold M, Kock E, Maumenee I, Squire JA, Phillips RA, Gallie BL. Genetic origin of mutations predisposing to retinoblastoma. Science (New York, N.Y.). 228: 501-3. PMID 3983638 DOI: 10.1126/Science.3983638 |
0.351 |
|
| 1985 |
Murray TG, Green WR, Maumenee IH, Kopits SE. Spondyloepiphyseal Dysplasia Congenita: Light and Electron Microscopic Studies of the Eye Archives of Ophthalmology. 103: 407-411. PMID 3977716 DOI: 10.1001/Archopht.1985.01050030103032 |
0.379 |
|
| 1985 |
McDonnell JM, Green WR, Maumenee IH. Ocular histopathology of systemic mucopolysaccharidosis, type II-A (Hunter syndrome, severe). Ophthalmology. 92: 1772-9. PMID 3937084 DOI: 10.1016/S0161-6420(85)34107-6 |
0.354 |
|
| 1985 |
Tseng SCG, Maumenee AE, Stark WJ, Maumenee IH, Jensen AD, Green WR, Kenyon KR. Topical retinoid treatment for various dry-eye disorders Ophthalmology. 92: 717-727. PMID 3880512 DOI: 10.1016/S0161-6420(85)33968-4 |
0.364 |
|
| 1985 |
Maumenee IH, Traboulsi EI. The Ocular Findings in Kniest Dysplasia: Reply American Journal of Ophthalmology. 100: 861. DOI: 10.1016/S0002-9394(14)73392-6 |
0.38 |
|
| 1984 |
Bateman JB, Maumenee IH, Sparkes RS. Peters’ Anomaly Associated With Partial Deletion of the Long Arm of Chromosome 11 American Journal of Ophthalmology. 97: 11-15. PMID 6696011 DOI: 10.1016/0002-9394(84)90440-9 |
0.427 |
|
| 1984 |
Bateman JB, Maumenee IH. Colobomatous macrophthalmia with microcornea Ophthalmic Genetics. 4: 59-66. PMID 6545385 DOI: 10.3109/13816818409007839 |
0.386 |
|
| 1984 |
Kivlin JD, Lovrien EW, Maumenee IH, Bishop DT, Bias W. Linkage analysis in lattice corneal dystrophy. American Journal of Medical Genetics. 19: 387-390. PMID 6334443 DOI: 10.1002/Ajmg.1320190222 |
0.32 |
|
| 1983 |
Monte MAD, Maumenee IH, Green WR, Kenyon KR. Histopathology of Sanfilippo's Syndrome Archives of Ophthalmology. 101: 1255-1262. PMID 6411049 DOI: 10.1001/Archopht.1983.01040020257020 |
0.409 |
|
| 1983 |
Mets MB, Maumenee IH. The eye and the chromosome Survey of Ophthalmology. 28: 20-32. PMID 6353648 DOI: 10.1016/0039-6257(83)90175-3 |
0.396 |
|
| 1983 |
Cohen SM, Green WR, de la Cruz ZC, Brown FR, Moser HW, Luckenbach MW, Dove DJ, Maumenee IH. Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. American Journal of Ophthalmology. 95: 82-96. PMID 6295171 DOI: 10.1016/0002-9394(83)90336-7 |
0.381 |
|
| 1983 |
Chan CC, Green WR, Maumenee IH, Sack GH. Ocular ultrastructural studies of two cases of the Hurler syndrome (systemic mucopolysaccharidosis I-H) * Ophthalmic Genetics. 2: 3-19. DOI: 10.3109/13816818309007145 |
0.378 |
|
| 1982 |
Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Archives of Ophthalmology. 100: 285-288. PMID 7065946 DOI: 10.1001/Archopht.1982.01030030287011 |
0.322 |
|
| 1982 |
Hamidi-Toosi S, Maumenee IH. Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita. Archives of Ophthalmology. 100: 1104-1107. PMID 6807266 DOI: 10.1001/Archopht.1982.01030040082015 |
0.398 |
|
| 1981 |
Maumenee IH, Stark WJ. Hereditary Fuchs' Dystrophy: Reply American Journal of Ophthalmology. 91: 277-278. DOI: 10.1016/0002-9394(81)90198-7 |
0.399 |
|
| 1980 |
Bateman JB, Riedner ED, Levin LS, Maumenee IH. Heterogeneity of retinal degeneration and hearing impairment syndromes American Journal of Ophthalmology. 90: 755-767. PMID 7446663 DOI: 10.1016/S0002-9394(14)75190-6 |
0.407 |
|
| 1980 |
Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE. Hereditary Fuchs' Dystrophy American Journal of Ophthalmology. 90: 455-462. PMID 6968504 DOI: 10.1016/S0002-9394(14)75011-1 |
0.392 |
|
| 1979 |
Robin AL, Quigley HA, Pollack IP, Maumenee AE, Maumenee IH. An Analysis of Visual Acuity, Visual Fields, and Disk Cupping in Childhood Glaucoma American Journal of Ophthalmology. 88: 847-858. PMID 507164 DOI: 10.1016/0002-9394(79)90562-2 |
0.325 |
|
| 1979 |
Maumenee IH. Classification of hereditary cataracts in children by linkage analysis. Ophthalmology. 86: 1554-1558. PMID 121767 DOI: 10.1016/S0161-6420(79)35365-9 |
0.395 |
|
| 1979 |
Maumenee IH. Vitreoretinal Degeneration as a Sign of Generalized Connective Tissue Diseases American Journal of Ophthalmology. 88: 432-449. PMID 114056 DOI: 10.1016/0002-9394(79)90645-7 |
0.397 |
|
| 1978 |
Judisch GF, Maumenee IH. Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. American Journal of Ophthalmology. 85: 606-612. PMID 306759 DOI: 10.1016/S0002-9394(14)77091-6 |
0.373 |
|
| 1978 |
Maumenee IH. The cornea in connective tissue diseases. Ophthalmology. 85: 1014-1017. PMID 154085 DOI: 10.1016/S0161-6420(78)35591-3 |
0.4 |
|
| 1977 |
Elsas FJ, Maumenee IH, Kenyon KR, Yoder F. Familial Aniridia with Preserved Ocular Function American Journal of Ophthalmology. 83: 718-724. PMID 868970 DOI: 10.1016/0002-9394(77)90139-8 |
0.401 |
|
| 1976 |
Maumenee IH. Chromosomal Aberrations in Ophthalmology American Journal of Ophthalmology. 82: 151. DOI: 10.1016/0002-9394(76)90690-5 |
0.307 |
|
| 1974 |
Maumenee IH. Autosomal Dominant Inheritance in Albinism American Journal of Ophthalmology. 78: 737-738. PMID 4414127 DOI: 10.1016/S0002-9394(14)76322-6 |
0.423 |
|
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