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Results: 1-25 | 26-27
Results: 1-25/27
ASSESSMENT OF THE INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN-1 (IMPG1) GENE LOCALIZED TO 6Q13-Q15 IN AUTOSOMAL-DOMINANT STARGARDT-LIKE DISEASE (ADSTGD), PROGRESSIVE BIFOCAL CHORIORETINAL ATROPHY (PBCRA), AND NORTH-CAROLINA MACULAR DYSTROPHY (MCDR1)
Authors: GEHRIG A FELBOR U KELSELL RE HUNT DM MAUMENEE IH WEBER BHF
Citation: A. Gehrig et al., ASSESSMENT OF THE INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN-1 (IMPG1) GENE LOCALIZED 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(8), 1998, pp. 641-645
FAMILIAL AXENFELD-RIEGER-ANOMALY, ATRIAL SEPTAL-DEFECT, AND SENSORINEURAL HEARING-LOSS - A POSSIBLE NEW GENETIC SYNDROME
Authors: CUNNINGHAM ET ELIOTT D MILLER NR MAUMENEE IH GREEN WR
Citation: Et. Cunningham et al., FAMILIAL AXENFELD-RIEGER-ANOMALY, ATRIAL SEPTAL-DEFECT, AND SENSORINEURAL HEARING-LOSS - A POSSIBLE NEW GENETIC SYNDROME, Archives of ophthalmology, 116(1), 1998, pp. 78-82
CLINICAL-FEATURES OF AUTOSOMAL-DOMINANT CONGENITAL NYSTAGMUS LINKED TO CHROMOSOME 6P12
Authors: KERRISON JB KOENEKOOP RK ARNOULD VJ ZEE D MAUMENEE IH
Citation: Jb. Kerrison et al., CLINICAL-FEATURES OF AUTOSOMAL-DOMINANT CONGENITAL NYSTAGMUS LINKED TO CHROMOSOME 6P12, American journal of ophthalmology, 125(1), 1998, pp. 64-70
AUTOSOMAL-DOMINANT CERULEAN CATARACT IS ASSOCIATED WITH A CHAIN TERMINATION MUTATION IN THE HUMAN BETA-CRYSTALLIN GENE CRYBB2
Authors: LITT M CARREROVALENZUELA R LAMORTICELLA DM SCHULTZ DW MITCHELL TN KRAMER P MAUMENEE IH
Citation: M. Litt et al., AUTOSOMAL-DOMINANT CERULEAN CATARACT IS ASSOCIATED WITH A CHAIN TERMINATION MUTATION IN THE HUMAN BETA-CRYSTALLIN GENE CRYBB2, Human molecular genetics, 6(5), 1997, pp. 665-668
A GENE FOR AUTOSOMAL-DOMINANT CONGENITAL NYSTAGMUS LOCALIZES TO 6P12
Authors: KERRISON JB ARNOULD VJ BARMADA MM KOENEKOOP RK SCHMECKPEPER BJ MAUMENEE IH
Citation: Jb. Kerrison et al., A GENE FOR AUTOSOMAL-DOMINANT CONGENITAL NYSTAGMUS LOCALIZES TO 6P12, Genomics, 33(3), 1996, pp. 523-526
THE CASTROVIEJO SQUARE GRAFT
Authors: HASELWOOD DM LESKO WS MAUMENEE IH STARK WJ GREEN WR
Citation: Dm. Haselwood et al., THE CASTROVIEJO SQUARE GRAFT, Ophthalmic surgery, 27(2), 1996, pp. 127-132
PHOTOAVERSION IN LEBERS CONGENITAL AMAUROSIS
Authors: TRABOULSI EI MAUMENEE IH
Citation: Ei. Traboulsi et Ih. Maumenee, PHOTOAVERSION IN LEBERS CONGENITAL AMAUROSIS, Ophthalmic genetics, 16(1), 1995, pp. 27-30
OCULAR FINDINGS IN THE NEURONAL CEROID-LIPOFUSCINOSES
Authors: TRABOULSI EI SALAMA H NAIDU S MAUMENEE IH
Citation: Ei. Traboulsi et al., OCULAR FINDINGS IN THE NEURONAL CEROID-LIPOFUSCINOSES, Investigative ophthalmology & visual science, 36(4), 1995, pp. 226-226
CONVOLUTED RETINAL VEINS AS A SIGN OF SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: ALHAZZAA SAF OZAND PT SAKATI NA MAUMENEE IH
Citation: Saf. Alhazzaa et al., CONVOLUTED RETINAL VEINS AS A SIGN OF SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Investigative ophthalmology & visual science, 36(4), 1995, pp. 620-620
EFFECTS OF STRABISMUS SURGERY ON REFRACTION IN CHILDREN
Authors: DENIS D BARDOT J VOLOT F SARACCO JB MAUMENEE IH
Citation: D. Denis et al., EFFECTS OF STRABISMUS SURGERY ON REFRACTION IN CHILDREN, Ophthalmologica, 209(3), 1995, pp. 136-140
IMMUNOHISTOCHEMICAL LOCALIZATION OF FIBRILLIN IN HUMAN OCULAR-TISSUES- RELEVANCE TO THE MARFAN-SYNDROME
Authors: WHEATLEY HM TRABOULSI EI FLOWERS BE MAUMENEE IH AZAR D PYERITZ RE WHITTUMHUDSON JA
Citation: Hm. Wheatley et al., IMMUNOHISTOCHEMICAL LOCALIZATION OF FIBRILLIN IN HUMAN OCULAR-TISSUES- RELEVANCE TO THE MARFAN-SYNDROME, Archives of ophthalmology, 113(1), 1995, pp. 103-109
VISUAL OUTCOME AFTER SURGERY FOR PETERS ANOMALY
Authors: GOLLAMUDI SR TRABOULSI EI CHAMON W STARK WJ MAUMENEE IH
Citation: Sr. Gollamudi et al., VISUAL OUTCOME AFTER SURGERY FOR PETERS ANOMALY, Ophthalmic genetics, 15(1), 1994, pp. 31-35
OCULAR FINDINGS IN TRIGONOCEPHALY
Authors: DENIS D GENITORI L BARDOT J SARACCO JB CHOUX M MAUMENEE IH
Citation: D. Denis et al., OCULAR FINDINGS IN TRIGONOCEPHALY, Graefe's archive for clinical and experimental ophthalmology, 232(12), 1994, pp. 728-733
MUTATION ANALYSIS OF THE NORRIE DISEASE GENE IN 11 FAMILIES
Authors: ZHU DP MAUMENEE IH
Citation: Dp. Zhu et Ih. Maumenee, MUTATION ANALYSIS OF THE NORRIE DISEASE GENE IN 11 FAMILIES, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1265-1265
IMMUNOHISTOCHEMICAL LOCALIZATION OF FIBRILLIN IN HUMAN OCULAR-TISSUES
Authors: WHEATLEY HM FLOWERS BE MAUMENEE IH AZAR D WHITTUMHUDSON J TRABOULSI EI
Citation: Hm. Wheatley et al., IMMUNOHISTOCHEMICAL LOCALIZATION OF FIBRILLIN IN HUMAN OCULAR-TISSUES, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1446-1446
FAMILY STUDIES IN SIMPLE CHRONIC OPEN-ANGLE GLAUCOMA
Authors: NGUYEN RL ARCARO D OWEN P MAUMENEE IH QUIGLEY HA BEATY TH TIELSCH J TRABOULSI EI
Citation: Rl. Nguyen et al., FAMILY STUDIES IN SIMPLE CHRONIC OPEN-ANGLE GLAUCOMA, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1471-1471
STUDIES OF THE PAX-6 GENE IN PATIENTS WITH THE ANOPHTHALMIA-MICROPHTHALMIA-COLOBOMA SPECTRUM OF OCULAR MALFORMATIONS
Authors: RUTHERFORD GW ZHU D SMITH EA MAUMENEE IH TRABOULSI EI
Citation: Gw. Rutherford et al., STUDIES OF THE PAX-6 GENE IN PATIENTS WITH THE ANOPHTHALMIA-MICROPHTHALMIA-COLOBOMA SPECTRUM OF OCULAR MALFORMATIONS, Investigative ophthalmology & visual science, 35(4), 1994, pp. 2144-2144
STRABISMUS IN THE MARFAN-SYNDROME
Authors: IZQUIERDO NJ TRABOULSI EI ENGER C MAUMENEE IH
Citation: Nj. Izquierdo et al., STRABISMUS IN THE MARFAN-SYNDROME, American journal of ophthalmology, 117(5), 1994, pp. 632-635
ANTERIOR SEGMENT MALFORMATIONS IN 18Q-(DEGROUCHY) SYNDROME
Authors: IZQUIERDO NJ MAUMENEE IH TRABOULSI EI
Citation: Nj. Izquierdo et al., ANTERIOR SEGMENT MALFORMATIONS IN 18Q-(DEGROUCHY) SYNDROME, Ophthalmic paediatrics and genetics, 14(2), 1993, pp. 91-94
OCULAR CLINICOPATHOLOGICAL STUDY OF THE MITOCHONDRIAL ENCEPHALOMYOPATHY OVERLAP SYNDROMES
Authors: CHANG TS JOHNS DR WALKER D DELACRUZ Z MAUMENEE IH GREEN R
Citation: Ts. Chang et al., OCULAR CLINICOPATHOLOGICAL STUDY OF THE MITOCHONDRIAL ENCEPHALOMYOPATHY OVERLAP SYNDROMES, Archives of ophthalmology, 111(9), 1993, pp. 1254-1262
GENETIC-HETEROGENEITY AMONG BLUE-CONE MONOCHROMATES
Authors: NATHANS J MAUMENEE IH ZRENNER E SADOWSKI B SHARPE LT LEWIS RA HANSEN E ROSENBERG T SCHWARTZ M HECKENLIVELY JR TRABOULSI E KLINGAMAN R BECHHANSEN NT LAROCHE GR PAGON RA MURPHEY WH WELEBER RG
Citation: J. Nathans et al., GENETIC-HETEROGENEITY AMONG BLUE-CONE MONOCHROMATES, American journal of human genetics, 53(5), 1993, pp. 987-1000
FAMILY STUDIES IN SIMPLE CHRONIC OPEN-ANGLE GLAUCOMA (COAG)
Authors: NGUYEN RL ARCARO D OWEN P MAUMENEE IH QUIGLEY HA BEATY T TIELSCH J TRABOULSI EI
Citation: Rl. Nguyen et al., FAMILY STUDIES IN SIMPLE CHRONIC OPEN-ANGLE GLAUCOMA (COAG), American journal of human genetics, 53(3), 1993, pp. 837-837
MUTATIONS IN THE ND GENE IN FAMILIES WITH NORRIE DISEASE
Authors: ZHU D MAUMENEE IH
Citation: D. Zhu et Ih. Maumenee, MUTATIONS IN THE ND GENE IN FAMILIES WITH NORRIE DISEASE, American journal of human genetics, 53(3), 1993, pp. 1260-1260
IDENTIFICATION OF NOVEL RHODOPSIN MUTATIONS RESPONSIBLE FOR RETINITIS-PIGMENTOSA - IMPLICATIONS FOR THE STRUCTURE AND FUNCTION OF RHODOPSIN
Authors: MACKE JP DAVENPORT CM JACOBSON SG HENNESSEY JC GONZALEZFERNANDEZ F CONWAY BP HECKENLIVELY J PALMER R MAUMENEE IH SIEVING P GOURAS P GOOD W NATHANS J
Citation: Jp. Macke et al., IDENTIFICATION OF NOVEL RHODOPSIN MUTATIONS RESPONSIBLE FOR RETINITIS-PIGMENTOSA - IMPLICATIONS FOR THE STRUCTURE AND FUNCTION OF RHODOPSIN, American journal of human genetics, 53(1), 1993, pp. 80-89
GLAUCOMA IN THE MARFAN-SYNDROME
Authors: IZQUIERDO NJ TRABOULSI EI ENGER C MAUMENEE IH
Citation: Nj. Izquierdo et al., GLAUCOMA IN THE MARFAN-SYNDROME, Investigative ophthalmology & visual science, 33(4), 1992, pp. 1076-1076
Risultati: 1-25 | 26-27