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Results: 1-9 |
Results: 9
THE GENE FOR MESOMELIC DYSPLASIA KANTAPUTRA TYPE IS MAPPED TO CHROMOSOME 2Q24-Q32
Authors: FUJIMOTO M KANTAPUTRA PN IKEGAWA S FUKUSHIMA Y SONTA S MATSUO M ISHIDA T MATSUMOTO T KONDO S TOMITA H DENG HX DURSO M RINALDI MM VENTRUTO V TAKAGI T NAKAMURA Y NIIKAWA N
Citation: M. Fujimoto et al., THE GENE FOR MESOMELIC DYSPLASIA KANTAPUTRA TYPE IS MAPPED TO CHROMOSOME 2Q24-Q32, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 32-36
FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS)
Authors: DENDUNNEN JT KRAAYENBRINK T VANSCHOONEVELD M VANDEVOSSE E DEJONG PTVM TENBRINK JB SCHUURMAN E TIJMES N VANOMMEN GJB BERGEN AAB ANDOLFI G MONTINI E LI Y OUDET C BOLZ H KAPLAN J ORTH U GAL A HANAUER A BARDELLI AM AYUSO C DIAZ FJ BITOUN P VENTRUTO V BALLABIO A FRANCO B HIRIYANNA KT BINGHAM EL MCHENRY C PAWAR H COATS C DARGA T RICHARDS JE SIEVING PA HUOPANIEMI L RANTALA A ROSENBERG T DAHL N WRIGHT A DELACHAPELLE A ALITALO T LENZNER S BRUNNER B FEIL S NIESLER B SCHULZ U PINCKERS A BLANKENNAGEL A RUETHER K KELLNER U RAPPOLD G ROPERS HH KALSCHEUER V BERGER W TRUMP D WALPOLE SM NICOLAOU A GAYTHOR SA PIMENIDES D GEORGE NDL MOORE UT YATES JRW
Citation: Jt. Dendunnen et al., FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS), Human molecular genetics (Print), 7(7), 1998, pp. 1185-1192
AUTOSOMAL RECESSIVE FAMILIAL EXUDATIVE VITREORETINOPATHY - EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: DECRECCHIO G SIMONELLI F NUNZIATA G MAZZEO S GRECO GM RINALDI E VENTRUTO V CICCODICOLA A MIANO MG TESTA F CURCI A DURSO M RINALDI MM CAVALIERE ML CASTELLUCCIO P
Citation: G. Decrecchio et al., AUTOSOMAL RECESSIVE FAMILIAL EXUDATIVE VITREORETINOPATHY - EVIDENCE FOR GENETIC-HETEROGENEITY, Clinical genetics, 54(4), 1998, pp. 315-320
OCULAR SIGNS ASSOCIATED WITH A RHODOPSIN MUTATION (CYS-167-]ARG) IN AFAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: SIMONELLI F RINALDI M NESTI A TESTA F RINALDI E CICCODICOLA A FLAGIELLO L MIANO MG VENTRUTO V DURSO M
Citation: F. Simonelli et al., OCULAR SIGNS ASSOCIATED WITH A RHODOPSIN MUTATION (CYS-167-]ARG) IN AFAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, British journal of ophthalmology, 82(6), 1998, pp. 709-709
A FURTHER OBSERVATION OF CORNEAL-DYSTROPHY AND PERCEPTIVE DEAFNESS IN2 SIBLINGS
Authors: MAGLI A CAPASSO L FOA T MAURINO V VENTRUTO V
Citation: A. Magli et al., A FURTHER OBSERVATION OF CORNEAL-DYSTROPHY AND PERCEPTIVE DEAFNESS IN2 SIBLINGS, Ophthalmic genetics, 18(2), 1997, pp. 87-91
LINKAGE OF DFNB1 TO NON-SYNDROMIC NEUROSENSORY AUTOSOMAL-RECESSIVE DEAFNESS IN MEDITERRANEAN FAMILIES
Authors: GASPARINI P ESTIVILL X VOLPINI V TOTARO A CASTELLVIBEL S GOVEA N MILA M DELLAMONICA M VENTRUTO V DEBENEDETTO M STANZIALE P ZELANTE L MANSFIELD ES SANDKUIJL L SURREY S FORTINA P
Citation: P. Gasparini et al., LINKAGE OF DFNB1 TO NON-SYNDROMIC NEUROSENSORY AUTOSOMAL-RECESSIVE DEAFNESS IN MEDITERRANEAN FAMILIES, European journal of human genetics, 5(2), 1997, pp. 83-88
MUTATION ANALYSIS OF RPGR GENE IN PATIENTS WITH X-LINKED RETINITIS-PIGMENTOSA (RP3)
Authors: CICCODICOLA A MIANO MG TESTA F SIMONELLI F BAIGET M ANTINOLO G DELPORTO G DANESINO C RINALDI E VENTRUTO V DURSO M
Citation: A. Ciccodicola et al., MUTATION ANALYSIS OF RPGR GENE IN PATIENTS WITH X-LINKED RETINITIS-PIGMENTOSA (RP3), American journal of human genetics, 61(4), 1997, pp. 1922-1922
RHODOPSIN AND PERIPHERIN RDS GENES ANALYSIS IN PATIENT AFFECTED BY RETINITIS-PIGMENTOSA/
Authors: DURSO M FLAGIELLO L CIRIGLIANO V DESPOSITO M SIMONELLI F RINALDI E VENTRUTO V
Citation: M. Durso et al., RHODOPSIN AND PERIPHERIN RDS GENES ANALYSIS IN PATIENT AFFECTED BY RETINITIS-PIGMENTOSA/, Investigative ophthalmology & visual science, 37(3), 1996, pp. 511-511
SIMULTANEOUS OCCURRENCE OF TETRASOMY-21 AND TRISOMY-8 IN A PATIENT WITH EARLY ELASTIC METAMORPHOSIS OF CHRONIC MYELOPROLIFERATIVE DISORDER
Authors: SEBASTIO L FERRARA F VICARI L DINOTO R DELVECCHIO L PANE F FASANARO A CIMINO R SALVATORE F VENTRUTO V
Citation: L. Sebastio et al., SIMULTANEOUS OCCURRENCE OF TETRASOMY-21 AND TRISOMY-8 IN A PATIENT WITH EARLY ELASTIC METAMORPHOSIS OF CHRONIC MYELOPROLIFERATIVE DISORDER, American journal of hematology, 50(1), 1995, pp. 49-52
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