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Results: 1-21 |
Results: 21
OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM
Authors: SCHNUR RE GAO M WICK PA KELLER M BENKE PJ EDWARDS MJ GRIX AW HOCKEY A JUNG JH KIDD KK KISTENMACHER M LEVIN AV LEWIS RA MUSARELLA MA NOWAKOWSKI RW ORLOW SJ PAGON RS PILLERS DAM PUNNETT HH QUINN GE TEZCAN K WAGSTAFF J WELEBER RG
Citation: Re. Schnur et al., OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM, American journal of human genetics, 62(4), 1998, pp. 800-809
EVIDENCE FOR GENETIC-HETEROGENEITY IN X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS
Authors: BOYCOTT KM PEARCE WG MUSARELLA MA WELEBER RG MAYBAUM TA BIRCH DG MIYAKE Y YOUNG RSL BECHHANSEN NT
Citation: Km. Boycott et al., EVIDENCE FOR GENETIC-HETEROGENEITY IN X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS, American journal of human genetics, 62(4), 1998, pp. 865-875
SUMMARY OF OCULAR GENETIC-DISORDERS AND INHERITED SYSTEMIC CONDITIONSWITH EYE FINDINGS
Authors: MACDONALD IM HANEY PM MUSARELLA MA
Citation: Im. Macdonald et al., SUMMARY OF OCULAR GENETIC-DISORDERS AND INHERITED SYSTEMIC CONDITIONSWITH EYE FINDINGS, Ophthalmic genetics, 19(1), 1998, pp. 1-17
LOSS-OF-FUNCTION MUTATIONS IN A CALCIUM-CHANNEL ALPHA(1)-SUBUNIT GENEIN XP11.23 CAUSE INCOMPLETE X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS
Authors: BECHHANSEN NT NAYLOR MJ MAYBAUM TA PEARCE WG KOOP B FISHMAN GA METS M MUSARELLA MA BOYCOTT KM
Citation: Nt. Bechhansen et al., LOSS-OF-FUNCTION MUTATIONS IN A CALCIUM-CHANNEL ALPHA(1)-SUBUNIT GENEIN XP11.23 CAUSE INCOMPLETE X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS, Nature genetics, 19(3), 1998, pp. 264-267
NOVEL TRABECULAR MESHWORK INDUCIBLE GLUCOCORTICOID RESPONSE MUTATION IN AN 8-GENERATION JUVENILE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA PEDIGREE
Authors: RICHARDS JE RITCH R LICHTER PR ROZSA FW STRINGHAM HM CARONIA RM JOHNSON D ABUNDO GP WILLCOCKSON J DOWNS CA THOMPSON DA MUSARELLA MA GUPTA N OTHMAN MI TORREZ DM HERMAN SB WONG DJ HIGASHI M BOEHNKE M
Citation: Je. Richards et al., NOVEL TRABECULAR MESHWORK INDUCIBLE GLUCOCORTICOID RESPONSE MUTATION IN AN 8-GENERATION JUVENILE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA PEDIGREE, Ophthalmology (Rochester, Minn.), 105(9), 1998, pp. 1698-1707
FIRST AFRICAN-AMERICAN CHILD WITH JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS
Authors: INAN C WONG D WISNIEWSKI KE ROSE AL MUSARELLA MA
Citation: C. Inan et al., FIRST AFRICAN-AMERICAN CHILD WITH JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS, American journal of medical genetics, 79(5), 1998, pp. 335-336
NOVEL MUTATIONS OF THE TYROSINASE (TYR) GENE IN TYPE-I OCULOCUTANEOUSALBINISM (OCA1)
Authors: SPRITZ RA OH J FUKAI K HOLMES SA HO LL CHITAYAT D FRANCE TD MUSARELLA MA ORLOW SJ SCHNUR RE WELEBER RG LEVIN AV
Citation: Ra. Spritz et al., NOVEL MUTATIONS OF THE TYROSINASE (TYR) GENE IN TYPE-I OCULOCUTANEOUSALBINISM (OCA1), Human mutation, 10(2), 1997, pp. 171-174
NOVEL MUTATIONS OF THE P-GENE IN TYPE-II OCULOCUTANEOUS ALBINISM (OCA2)
Authors: SPRITZ RA LEE ST FUKAI K BRONDUMNIELSEN K CHITAYAT D LIPSON MH MUSARELLA MA ROSENMANN A WELEBER RG
Citation: Ra. Spritz et al., NOVEL MUTATIONS OF THE P-GENE IN TYPE-II OCULOCUTANEOUS ALBINISM (OCA2), Human mutation, 10(2), 1997, pp. 175-177
SPECTRUM OF MUTATIONS IN THE RPGR GENE THAT ARE IDENTIFIED IN 20-PERCENT OF FAMILIES WITH X-LINKED RETINITIS-PIGMENTOSA
Authors: BURACZYNSKA M WU WP FUJITA R BURACZYNSKA K PHELPS E ANDREASSON S BENNETT J BIRCH DG FISHMAN GA HOFFMAN DR INANA G JACOBSON SG MUSARELLA MA SIEVING PA SWAROOP A
Citation: M. Buraczynska et al., SPECTRUM OF MUTATIONS IN THE RPGR GENE THAT ARE IDENTIFIED IN 20-PERCENT OF FAMILIES WITH X-LINKED RETINITIS-PIGMENTOSA, American journal of human genetics, 61(6), 1997, pp. 1287-1292
EVIDENCE FOR GENETIC-HETEROGENEITY IN X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS
Authors: BECHHANSEN NT PEARCE WG MUSARELLA MA WELEBER RG MAYBAUM TA BIRCH DG MIYAKE Y BOYCOTT KM
Citation: Nt. Bechhansen et al., EVIDENCE FOR GENETIC-HETEROGENEITY IN X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS, American journal of human genetics, 61(4), 1997, pp. 1339-1339
ANALYSIS OF 3 DELETION BREAKPOINTS IN XP21.1 AND THE FURTHER LOCALIZATION OF RP3
Authors: BROWN J DRY KL EDGAR AJ PRYDE FE HARDWICK LJ ALDRED MA LESTER DH BOYLE S KAPLAN J DUFIER JL HO MF MONACO AM MUSARELLA MA WRIGHT AF
Citation: J. Brown et al., ANALYSIS OF 3 DELETION BREAKPOINTS IN XP21.1 AND THE FURTHER LOCALIZATION OF RP3, Genomics, 37(2), 1996, pp. 200-210
GENETIC-HETEROGENEITY IN 23 CANADIAN BARDET-BIEDL FAMILIES AND EVIDENCE FOR A 5TH BBS LOCUS
Authors: SUNDEN SLF HEON E KWITEKBLACK AE GREEN J PARFREY P MUSARELLA MA NISHIMURA D HARNETT J HEFFERTON D STONE EM SHEFFIELD VC
Citation: Slf. Sunden et al., GENETIC-HETEROGENEITY IN 23 CANADIAN BARDET-BIEDL FAMILIES AND EVIDENCE FOR A 5TH BBS LOCUS, Investigative ophthalmology & visual science, 36(4), 1995, pp. 774-774
THE OCULAR PATHOLOGY IN LEBERS CONGENITAL AMAUROSIS
Authors: SULLIVAN TJ HEATHCOTE JG BRAZEL SM MUSARELLA MA
Citation: Tj. Sullivan et al., THE OCULAR PATHOLOGY IN LEBERS CONGENITAL AMAUROSIS, Australian and New Zealand journal of ophthalmology, 22(1), 1994, pp. 25-31
CHARACTERIZATION OF THE OCULAR PHENOTYPE OF DUCHENNE AND BECKER MUSCULAR-DYSTROPHY
Authors: SIGESMUND DA WELEBER RG PILLERS DAM WESTALL CA PANTON CM POWELL BR HEON E MURPHEY WH MUSARELLA MA RAY PN
Citation: Da. Sigesmund et al., CHARACTERIZATION OF THE OCULAR PHENOTYPE OF DUCHENNE AND BECKER MUSCULAR-DYSTROPHY, Ophthalmology, 101(5), 1994, pp. 856-865
EXCLUSION OF CELLULAR RETINALDEHYDE-BINDING PROTEIN (CRALBP) AS A CANDIDATE GENE FOR STARGARDS DISEASE
Authors: YUAN CC CRABB JW FISHMAN GA JACOBSON S MUSARELLA MA
Citation: Cc. Yuan et al., EXCLUSION OF CELLULAR RETINALDEHYDE-BINDING PROTEIN (CRALBP) AS A CANDIDATE GENE FOR STARGARDS DISEASE, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1788-1788
DYSTROPHIN EXPRESSION IN THE HUMAN RETINA IS REQUIRED FOR NORMAL FUNCTION AS DEFINED BY ELECTRORETINOGRAPHY
Authors: PILLERS DAM BULMAN DE WELEBER RG SIGESMUND DA MUSARELLA MA POWELL BR MURPHEY WH WESTALL C PANTON C BECKER LE WORTON RG RAY PN
Citation: Dam. Pillers et al., DYSTROPHIN EXPRESSION IN THE HUMAN RETINA IS REQUIRED FOR NORMAL FUNCTION AS DEFINED BY ELECTRORETINOGRAPHY, Nature genetics, 4(1), 1993, pp. 82-86
DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN RECOVERIN RCVI GENE LOCUS ON CHROMOSOME-17P
Authors: DOLLFUS H ROZET JM MUSARELLA MA KAPLAN J MUNNICH A
Citation: H. Dollfus et al., DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN RECOVERIN RCVI GENE LOCUS ON CHROMOSOME-17P, Human molecular genetics, 2(7), 1993, pp. 1081-1081
DINUCLEOTIDE REPEAT POLYMORPHISM NEAR THE RP3 LOCUS IN XP21 (DXS1110)
Authors: ROUX AF YUAN CC ROMMENS JM MUSARELLA MA
Citation: Af. Roux et al., DINUCLEOTIDE REPEAT POLYMORPHISM NEAR THE RP3 LOCUS IN XP21 (DXS1110), Human molecular genetics, 2(6), 1993, pp. 821-821
MUTATIONS OF THE TYROSINASE GENE IN INDO-PAKISTANI PATIENTS WITH TYPE-I (TYROSINASE-DEFICIENT) OCULOCUTANEOUS ALBINISM (OCA)
Authors: TRIPATHI RK BUNDEY S MUSARELLA MA DROETTO S STRUNK KM HOLMES SA SPRITZ RA
Citation: Rk. Tripathi et al., MUTATIONS OF THE TYROSINASE GENE IN INDO-PAKISTANI PATIENTS WITH TYPE-I (TYROSINASE-DEFICIENT) OCULOCUTANEOUS ALBINISM (OCA), American journal of human genetics, 53(6), 1993, pp. 1173-1179
GENOTYPE-PHENOTYPE CORRELATIONS IDENTIFIED BY ELECTROPHYSIOLOGY OF THE RETINA IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PATIENTS
Authors: PILLERS DM SIGESMUND DA RAY PN MUSARELLA MA TREMBLAY F SELTZER WK POWELL B MCCABE ERB SCHNUR RE PANTON C WESTALL C MURPHYE WH WELEBER RG
Citation: Dm. Pillers et al., GENOTYPE-PHENOTYPE CORRELATIONS IDENTIFIED BY ELECTROPHYSIOLOGY OF THE RETINA IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PATIENTS, American journal of human genetics, 53(3), 1993, pp. 146-146
ASSIGNMENT OF THE GENE FOR INCOMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS (CSNB2) TO PROXIMAL XP
Authors: MUSARELLA MA KIRSHGESSNER C TROFATTER J MIYAKE Y DEGENNARO L
Citation: Ma. Musarella et al., ASSIGNMENT OF THE GENE FOR INCOMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS (CSNB2) TO PROXIMAL XP, Investigative ophthalmology & visual science, 33(4), 1992, pp. 792-792
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