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Results: 1-10 |
Results: 10
A NOVEL HOMEOBOX GENE PITX3 IS MUTATED IN FAMILIES WITH AUTOSOMAL-DOMINANT CATARACTS AND ASMD
Authors: SEMINA EV FERRELL RE MINTZHITTNER HA BITOUN P ALWARD WLM REITER RS FUNKHAUSER C DAACKHIRSCH S MURRAY JC
Citation: Ev. Semina et al., A NOVEL HOMEOBOX GENE PITX3 IS MUTATED IN FAMILIES WITH AUTOSOMAL-DOMINANT CATARACTS AND ASMD, Nature genetics, 19(2), 1998, pp. 167-170
MUTATIONS IN PITX3 - A NOVEL HOMEOBOX TRANSCRIPTION FACTOR GENE HOMOLOGOUS TO RIEG1 CAUSE DOMINANT CATARACTS AND GLAUCOMA
Authors: BITOUN P SEMINA E FERRELL RE MINTZHITTNER HA GAUDELUS J MURRAY JC
Citation: P. Bitoun et al., MUTATIONS IN PITX3 - A NOVEL HOMEOBOX TRANSCRIPTION FACTOR GENE HOMOLOGOUS TO RIEG1 CAUSE DOMINANT CATARACTS AND GLAUCOMA, European journal of human genetics, 6, 1998, pp. 401-401
A RANGE OF CLINICAL PHENOTYPES ASSOCIATED WITH MUTATIONS IN CRX, A PHOTORECEPTOR TRANSCRIPTION-FACTOR GENE
Authors: SOHOCKI MM SULLIVAN LS MINTZHITTNER HA BIRCH D HECKENLIVELY JR FREUND CL MCINNES RR DAIGER SP
Citation: Mm. Sohocki et al., A RANGE OF CLINICAL PHENOTYPES ASSOCIATED WITH MUTATIONS IN CRX, A PHOTORECEPTOR TRANSCRIPTION-FACTOR GENE, American journal of human genetics, 63(5), 1998, pp. 1307-1315
LONG-TERM FORM IDENTIFICATION VISION AFTER EARLY, CLOSED, LENSECTOMY - VITRECTOMY FOR STAGE-5 RETINOPATHY OF PREMATURITY
Authors: MINTZHITTNER HA OMALLEY RE KRETZER FL
Citation: Ha. Mintzhittner et al., LONG-TERM FORM IDENTIFICATION VISION AFTER EARLY, CLOSED, LENSECTOMY - VITRECTOMY FOR STAGE-5 RETINOPATHY OF PREMATURITY, Ophthalmology, 104(3), 1997, pp. 454-459
IDENTIFICATION OF CANDIDATE GENES INVOLVED IN THE AUTOSOMAL-DOMINANT CONE ROD DYSTROPHY LOCUS (CORD2) WHICH MAPS TO 19Q13.1
Authors: SOHOCKI MM SULLIVAN LS MINTZHITTNER HA DAIGER SP
Citation: Mm. Sohocki et al., IDENTIFICATION OF CANDIDATE GENES INVOLVED IN THE AUTOSOMAL-DOMINANT CONE ROD DYSTROPHY LOCUS (CORD2) WHICH MAPS TO 19Q13.1, American journal of human genetics, 61(4), 1997, pp. 1723-1723
EXCLUSION OF ATYPICAL VITELLIFORM MACULAR DYSTROPHY FROM 8Q24.3 AND FROM OTHER KNOWN MACULAR DEGENERATIVE LOCI
Authors: SOHOCKI MM SULLIVAN LS MINTZHITTNER HA SMALL K FERRELL RE DAIGER SP
Citation: Mm. Sohocki et al., EXCLUSION OF ATYPICAL VITELLIFORM MACULAR DYSTROPHY FROM 8Q24.3 AND FROM OTHER KNOWN MACULAR DEGENERATIVE LOCI, American journal of human genetics, 61(1), 1997, pp. 239-241
PERIPHERAL RETINOPATHY IN OFFSPRING OF CARRIERS OF NORRIE DISEASE GENE-MUTATIONS - POSSIBLE TRANSPLACENTAL EFFECT OF ABNORMAL NORRIN
Authors: MINTZHITTNER HA FERRELL RE SIMS KB FERNANDEZ KM GEMMELL BS SATRIANO DR CASTER J KRETZER FL
Citation: Ha. Mintzhittner et al., PERIPHERAL RETINOPATHY IN OFFSPRING OF CARRIERS OF NORRIE DISEASE GENE-MUTATIONS - POSSIBLE TRANSPLACENTAL EFFECT OF ABNORMAL NORRIN, Ophthalmology, 103(12), 1996, pp. 2128-2134
X-LINKED EXUDATIVE VITREORETINOPATHY CAUSED BY AN ARGININE TO LEUCINESUBSTITUTION (R121L) IN THE NORRIE DISEASE PROTEIN
Authors: JOHNSON K MINTZHITTNER HA CONLEY YP FERRELL RE
Citation: K. Johnson et al., X-LINKED EXUDATIVE VITREORETINOPATHY CAUSED BY AN ARGININE TO LEUCINESUBSTITUTION (R121L) IN THE NORRIE DISEASE PROTEIN, Clinical genetics, 50(3), 1996, pp. 113-115
POSTNATAL RETINAL VASCULARIZATION IN FORMER PRETERM INFANTS WITH RETINOPATHY OF PREMATURITY
Authors: MINTZHITTNER HA KRETZER FL
Citation: Ha. Mintzhittner et Fl. Kretzer, POSTNATAL RETINAL VASCULARIZATION IN FORMER PRETERM INFANTS WITH RETINOPATHY OF PREMATURITY, Ophthalmology, 101(3), 1994, pp. 548-558
THE PATTERN VISUAL-EVOKED POTENTIAL IN FORMER PRETERM INFANTS WITH RETINOPATHY OF PREMATURITY
Authors: MINTZHITTNER HA PRAGER TC SCHWEITZER FC KRETZER FL
Citation: Ha. Mintzhittner et al., THE PATTERN VISUAL-EVOKED POTENTIAL IN FORMER PRETERM INFANTS WITH RETINOPATHY OF PREMATURITY, Ophthalmology, 101(1), 1994, pp. 27-34
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