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Results: 1-25 |
Results: 25
SIBS WITH AXENFELD-RIEGER ANOMALY, HYDROCEPHALUS, AND LEPTOMENINGEAL CALCIFICATIONS - A NEW AUTOSOMAL RECESSIVE SYNDROME
Authors: MOOG U BLEEKERWAGEMAKERS EM CROBACH P VLES JSH SCHRANDERSTUMPEL CTRM
Citation: U. Moog et al., SIBS WITH AXENFELD-RIEGER ANOMALY, HYDROCEPHALUS, AND LEPTOMENINGEAL CALCIFICATIONS - A NEW AUTOSOMAL RECESSIVE SYNDROME, American journal of medical genetics, 78(3), 1998, pp. 263-266
CLINICAL AND GENETIC-ANALYSIS OF A LARGE DUTCH FAMILY WITH AUTOSOMAL-DOMINANT VASCULAR RETINOPATHY, MIGRAINE AND RAYNAUD PHENOMENON
Authors: TERWINDT GM HAAN J OPHOFF RA GROENEN SMA STORIMANS CWJM LANSER JBK ROOS RAC BLEEKERWAGEMAKERS EM FRANTS RR FERRARI MD
Citation: Gm. Terwindt et al., CLINICAL AND GENETIC-ANALYSIS OF A LARGE DUTCH FAMILY WITH AUTOSOMAL-DOMINANT VASCULAR RETINOPATHY, MIGRAINE AND RAYNAUD PHENOMENON, Brain, 121, 1998, pp. 303-316
PREVALENCE OF MENTAL-RETARDATION IN PATIENTS WITH HEREDITARY RETINOBLASTOMA
Authors: MOLL AC IMHOF SM BLEEKERWAGEMAKERS EM DENOTTER W BOUTER LM KOTEN JW TAN KEWP
Citation: Ac. Moll et al., PREVALENCE OF MENTAL-RETARDATION IN PATIENTS WITH HEREDITARY RETINOBLASTOMA, Ophthalmic genetics, 18(4), 1997, pp. 217-220
MOLECULAR-BASIS OF CHOROIDEREMIA (CHM) - MUTATIONS INVOLVING THE RAB ESCORT PROTEIN-1 (REP-1) GENE
Authors: VANDENHURK JAJM SCHWARTZ M VANBOKHOVEN H VANDEPOL TJR BOGERD L PINCKERS AJLG BLEEKERWAGEMAKERS EM PAWLOWITZKI IH RUTHER K ROPERS HH CREMERS FPM
Citation: Jajm. Vandenhurk et al., MOLECULAR-BASIS OF CHOROIDEREMIA (CHM) - MUTATIONS INVOLVING THE RAB ESCORT PROTEIN-1 (REP-1) GENE, Human mutation, 9(2), 1997, pp. 110-117
ON THE MANY FACES OF LEBER HEREDITARY OPTIC NEUROPATHY
Authors: OOSTRA RJ TIJMES NT COBBEN JM BOLHUIS PA VANNESSELROOIJ BPM HOUTMAN WA DEKOKNAZARUK MM BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., ON THE MANY FACES OF LEBER HEREDITARY OPTIC NEUROPATHY, Clinical genetics, 51(6), 1997, pp. 388-393
NO EVIDENCE FOR SKEWED INACTIVATION OF THE X-CHROMOSOME AS CAUSE OF LEBERS HEREDITARY OPTIC NEUROPATHY IN FEMALE CARRIERS
Authors: OOSTRA RJ KEMP S BOLHUIS PA BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., NO EVIDENCE FOR SKEWED INACTIVATION OF THE X-CHROMOSOME AS CAUSE OF LEBERS HEREDITARY OPTIC NEUROPATHY IN FEMALE CARRIERS, Human genetics, 97(4), 1996, pp. 500-505
FINE MAPPING OF THE AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS (RP12) ON CHROMOSOME-1Q - EXCLUSION OF THE PHOSDUCIN GENE (PDC)
Authors: VANSOEST S NIJENHUIS ST VANDENBORN LI BLEEKERWAGEMAKERS EM SHARP E SANDKUIJL LA WESTERVELD A BERGEN AAB
Citation: S. Vansoest et al., FINE MAPPING OF THE AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS (RP12) ON CHROMOSOME-1Q - EXCLUSION OF THE PHOSDUCIN GENE (PDC), Cytogenetics and cell genetics, 73(1-2), 1996, pp. 81-85
MOLECULAR CHARACTERIZATION OF THE RP12 GENE REGION
Authors: VANSOEST S VLIEX S DEJONG PTVM BLEEKERWAGEMAKERS EM WESTERVELD A BERGEN AAB
Citation: S. Vansoest et al., MOLECULAR CHARACTERIZATION OF THE RP12 GENE REGION, Vision research, 36, 1996, pp. 442-442
STABLE AND PROGRESSIVE HEARING-LOSS IN TYPE 2A USHERS SYNDROME
Authors: VANAAREM A HUYGEN PLM PINCKERS AJLG BLEEKERWAGEMAKERS EM KIMBERLING WJ CREMERS CWRJ
Citation: A. Vanaarem et al., STABLE AND PROGRESSIVE HEARING-LOSS IN TYPE 2A USHERS SYNDROME, The Annals of otology, rhinology & laryngology, 105(12), 1996, pp. 962-967
PRIMARY PATHOGENIC MTDNA MUTATIONS IN MULTIGENERATION PEDIGREES WITH LEBER HEREDITARY OPTIC NEUROPATHY
Authors: MACKEY DA OOSTRA RJ ROSENBERG T NIKOSKELAINEN E BRONTESTEWART J POULTON J HARDING AE GOVAN G BOLHUIS PA NORBY S BLEEKERWAGEMAKERS EM SAVONTAUS ML CHAN C HOWELL N
Citation: Da. Mackey et al., PRIMARY PATHOGENIC MTDNA MUTATIONS IN MULTIGENERATION PEDIGREES WITH LEBER HEREDITARY OPTIC NEUROPATHY, American journal of human genetics, 59(2), 1996, pp. 481-485
OPHTHALMOLOGIC FINDINGS IN USHER SYNDROME TYPE 2A
Authors: VANAAREM A WAGENAAR M PINCKERS AJLG HUYGEN PLM BLEEKERWAGEMAKERS EM KIMBERLING BJ CREMERS CWRJ
Citation: A. Vanaarem et al., OPHTHALMOLOGIC FINDINGS IN USHER SYNDROME TYPE 2A, Ophthalmic genetics, 16(4), 1995, pp. 151-158
PHENOTYPICAL AND GENOTYPIC CLASSIFICATION OF AUTOSOMAL RECESSIVE RP
Authors: VANDENBORN LI VANSOEST S RIEMSLAG FCC BERGEN AAB BLEEKERWAGEMAKERS EM DEJONG PTVM
Citation: Li. Vandenborn et al., PHENOTYPICAL AND GENOTYPIC CLASSIFICATION OF AUTOSOMAL RECESSIVE RP, Vision research, 35, 1995, pp. 376-376
FINE MAPPING OF THE AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS (RP12) ON CHROMOSOME IQ - EXCLUSION OF THE PHOSDUCIN GENE
Authors: VANSOEST S NUENHUIS ST VANDENBORN LI BLEEKERWAGEMAKERS EM SANKUIJL LA WESTERVELD A BERGEN AAB
Citation: S. Vansoest et al., FINE MAPPING OF THE AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS (RP12) ON CHROMOSOME IQ - EXCLUSION OF THE PHOSDUCIN GENE, Vision research, 35, 1995, pp. 3233-3233
THE MITOCHONDRIAL-DNA MUTATION ND6-ASTERISK-14,484C ASSOCIATED WITH LEBER HEREDITARY OPTIC NEUROPATHY, LEADS TO DEFICIENCY OF COMPLEX-I OF THE RESPIRATORY-CHAIN
Authors: OOSTRA RJ VANGALEN MJM BOLHUIS PA BLEEKERWAGEMAKERS EM VANDENBOGERT C
Citation: Rj. Oostra et al., THE MITOCHONDRIAL-DNA MUTATION ND6-ASTERISK-14,484C ASSOCIATED WITH LEBER HEREDITARY OPTIC NEUROPATHY, LEADS TO DEFICIENCY OF COMPLEX-I OF THE RESPIRATORY-CHAIN, Biochemical and biophysical research communications, 215(3), 1995, pp. 1001-1005
ISOLATION OF A CANDIDATE GENE FOR RP3
Authors: ROEPMAN R VANDUIJNHOVEN G CREMERS FPM ROSENBERG T SCHWARZ M BLEEKERWAGEMAKERS EM ROPERS HH BERGER W
Citation: R. Roepman et al., ISOLATION OF A CANDIDATE GENE FOR RP3, American journal of human genetics, 57(4), 1995, pp. 293-293
SIMULTANEOUS OCCURRENCE OF THE 11778 (ND4) AND THE 9438 (COX-111) MTDNA MUTATIONS IN LEBER HEREDITARY OPTIC NEUROPATHY - MOLECULAR, BIOCHEMICAL, AND CLINICAL FINDINGS
Authors: OOSTRA RJ VANDENBOGERT C NIJTMANS LGJ VANGALEN MJM ZWART R BOLHUIS PA BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., SIMULTANEOUS OCCURRENCE OF THE 11778 (ND4) AND THE 9438 (COX-111) MTDNA MUTATIONS IN LEBER HEREDITARY OPTIC NEUROPATHY - MOLECULAR, BIOCHEMICAL, AND CLINICAL FINDINGS, American journal of human genetics, 57(4), 1995, pp. 954-957
THR4LYS RHODOPSIN MUTATION IS ASSOCIATED WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA OF THE CONE-ROD TYPE IN A SMALL DUTCH FAMILY
Authors: VANDENBORN LI VANSCHOONEVELD MJ DEJONG LAMS RIEMSLAG FCC DEJONG PTVM GAL A BLEEKERWAGEMAKERS EM
Citation: Li. Vandenborn et al., THR4LYS RHODOPSIN MUTATION IS ASSOCIATED WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA OF THE CONE-ROD TYPE IN A SMALL DUTCH FAMILY, Ophthalmic genetics, 15(2), 1994, pp. 51-60
NANCE-HORAN SYNDROME - LINKAGE ANALYSIS IN A FAMILY FROM THE NETHERLANDS
Authors: BERGEN AAB TENBRINK J SCHUURMAN EJM BLEEKERWAGEMAKERS EM
Citation: Aab. Bergen et al., NANCE-HORAN SYNDROME - LINKAGE ANALYSIS IN A FAMILY FROM THE NETHERLANDS, Genomics, 21(1), 1994, pp. 238-240
LEBERS HEREDITARY OPTIC NEUROPATHY - NO SIGNIFICANT EVIDENCE FOR PRIMARY OR SECONDARY PATHOGENICITY OF THE 15-257-MUTATION
Authors: OOSTRA RJ BOLHUIS PA ZORNENDE I DEKOKNAZARUK MM BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., LEBERS HEREDITARY OPTIC NEUROPATHY - NO SIGNIFICANT EVIDENCE FOR PRIMARY OR SECONDARY PATHOGENICITY OF THE 15-257-MUTATION, Human genetics, 94(3), 1994, pp. 265-270
LEBERS HEREDITARY OPTIC NEUROPATHY - CORRELATIONS BETWEEN MITOCHONDRIAL GENOTYPE AND VISUAL OUTCOME
Authors: OOSTRA RJ BOLHUIS PA WIJBURG FA ZORNENDE G BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., LEBERS HEREDITARY OPTIC NEUROPATHY - CORRELATIONS BETWEEN MITOCHONDRIAL GENOTYPE AND VISUAL OUTCOME, Journal of Medical Genetics, 31(4), 1994, pp. 280-286
FUCHS HETEROCHROMIC UVEITIS ASSOCIATED WITH RETINITIS-PIGMENTOSA IN AFATHER AND SON
Authors: VANDENBORN LI VANSCHOONEVELD MJ DEJONG PTVM BLEEKERWAGEMAKERS EM
Citation: Li. Vandenborn et al., FUCHS HETEROCHROMIC UVEITIS ASSOCIATED WITH RETINITIS-PIGMENTOSA IN AFATHER AND SON, British journal of ophthalmology, 78(6), 1994, pp. 504-505
AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA WITH PRESERVED PARA-ARTERIOLAR RETINAL-PIGMENT EPITHELIUM
Authors: VANDENBORN LI VANSOEST S VANSCHOONEVELD MJ RIEMSLAG FCC DEJONG PTVM BLEEKERWAGEMAKERS EM
Citation: Li. Vandenborn et al., AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA WITH PRESERVED PARA-ARTERIOLAR RETINAL-PIGMENT EPITHELIUM, American journal of ophthalmology, 118(4), 1994, pp. 430-439
MITOCHONDRIAL-DNA ANALYSIS AS A DIAGNOSTIC-TOOL IN SINGLETON CASES OFLEBER HEREDITARY OPTIC NEUROPATHY
Authors: OOSTRA RJ BOLHUIS PA BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., MITOCHONDRIAL-DNA ANALYSIS AS A DIAGNOSTIC-TOOL IN SINGLETON CASES OFLEBER HEREDITARY OPTIC NEUROPATHY, Ophthalmic paediatrics and genetics, 14(3), 1993, pp. 109-115
THE IMPORTANCE OF DNA ANALYSIS IN SPORADIC ANIRIDIA
Authors: MANNENS M HOOVERS JMN BLEEKERWAGEMAKERS EM MANTYJARVI M TUPPURAINEN K
Citation: M. Mannens et al., THE IMPORTANCE OF DNA ANALYSIS IN SPORADIC ANIRIDIA, Acta ophthalmologica, 71(6), 1993, pp. 841-845
CARRIER DETECTION IN X-LINKED OCULAR ALBINISM OF THE NETTLESHIP-FALLSTYPE BY DNA ANALYSIS
Authors: BERGEN AAB SCHUURMAN EJM VANDENBORN LI SAMANNS C VANDORP DB PINCKERS AJLG BAKKER E VANOMMEN GJB GAL A BLEEKERWAGEMAKERS EM
Citation: Aab. Bergen et al., CARRIER DETECTION IN X-LINKED OCULAR ALBINISM OF THE NETTLESHIP-FALLSTYPE BY DNA ANALYSIS, Clinical genetics, 41(3), 1992, pp. 135-138
Risultati: 1-25 |