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Results: 1-8 |
Results: 8
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
A GENE FOR X-LINKED OPTIC ATROPHY IS CLOSELY LINKED TO THE XP11.4-XP11.2 REGION OF THE X-CHROMOSOME
Authors: ASSINK JJM TIJMES NT TENBRINK JB OOSTRA RJ RIEMSLAG FC DEJONG PTVM BERGEN AAB
Citation: Jjm. Assink et al., A GENE FOR X-LINKED OPTIC ATROPHY IS CLOSELY LINKED TO THE XP11.4-XP11.2 REGION OF THE X-CHROMOSOME, American journal of human genetics, 61(4), 1997, pp. 934-939
A FAMILY WITH X-LINKED OPTIC ATROPHY
Authors: ASSINK JJM TIJMES NT OOSTRA RJ TENBRINK JB RIEMSLAG FCC DEJONG PTVM BERGEN AAB
Citation: Jjm. Assink et al., A FAMILY WITH X-LINKED OPTIC ATROPHY, Vision research, 36, 1996, pp. 3236-3236
CONCLUSIVE EVIDENCE FOR A DISTINCT CONGENITAL STATIONARY NIGHT BLINDNESS LOCUS IN XP21.1
Authors: BERGEN AAB TENBRINK JB RIEMSLAG F SCHUURMAN EJM MEIRE F TIJMES M DEJONG PTVM
Citation: Aab. Bergen et al., CONCLUSIVE EVIDENCE FOR A DISTINCT CONGENITAL STATIONARY NIGHT BLINDNESS LOCUS IN XP21.1, Journal of Medical Genetics, 33(10), 1996, pp. 869-872
LOCALIZATION OF A NOVEL X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS LOCUS - CLOSE LINKAGE TO THE RP3 TYPE RETINITIS-PIGMENTOSA GENE REGION
Authors: BERGEN AAB TENBRINK JB RIEMSLAG F SCHUURMAN EJM TIJMES N
Citation: Aab. Bergen et al., LOCALIZATION OF A NOVEL X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS LOCUS - CLOSE LINKAGE TO THE RP3 TYPE RETINITIS-PIGMENTOSA GENE REGION, Human molecular genetics, 4(5), 1995, pp. 931-935
PSEUDOXANTHOMA ELASTICUM - A CLINICAL AND GENEALOGICAL STUDY
Authors: SWART J TENBRINK JB BERGEN AAB TIJMES NT
Citation: J. Swart et al., PSEUDOXANTHOMA ELASTICUM - A CLINICAL AND GENEALOGICAL STUDY, Vision research, 35, 1995, pp. 3126-3126
EFFICIENT DNA CARRIER DETECTION IN X-LINKED JUVENILE RETINOSCHISIS
Authors: BERGEN AAB TENBRINK JB VANSCHOONEVELD MJ
Citation: Aab. Bergen et al., EFFICIENT DNA CARRIER DETECTION IN X-LINKED JUVENILE RETINOSCHISIS, British journal of ophthalmology, 79(7), 1995, pp. 683-686
REFINEMENT OF THE CHROMOSOMAL POSITION OF THE X-LINKED JUVENILE RETINOSCHISIS GENE
Authors: BERGEN AAB TENBRINK JB BLEEKERWAGEMAKERS LM VANSCHOONEVELD MJ
Citation: Aab. Bergen et al., REFINEMENT OF THE CHROMOSOMAL POSITION OF THE X-LINKED JUVENILE RETINOSCHISIS GENE, Journal of Medical Genetics, 31(12), 1994, pp. 972-975
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