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Results: 1-20 |
Results: 20
CLINICAL PHENOTYPE OF DESMOSTEROLOSIS
Authors: FITZPATRICK DR KEELING JW EVANS MJ KAN AE BELL JE PORTEOUS MEM MILLS K WINTER RM CLAYTON PT
Citation: Dr. Fitzpatrick et al., CLINICAL PHENOTYPE OF DESMOSTEROLOSIS, American journal of medical genetics, 75(2), 1998, pp. 145-152
KERATOSIS-FOLLICULARIS SPINULOSA DECALVANS - CONFIRMATION OF LINKAGE TO XP22.13-P22.2
Authors: PORTEOUS MEM STRAIN L LOGIE LJ HERD RM BENTON EC
Citation: Mem. Porteous et al., KERATOSIS-FOLLICULARIS SPINULOSA DECALVANS - CONFIRMATION OF LINKAGE TO XP22.13-P22.2, Journal of Medical Genetics, 35(4), 1998, pp. 336-337
LIFE EXPECTANCY IN BRITISH MARFAN-SYNDROME POPULATIONS
Authors: GRAY JR BRIDGES AB WEST RR MCLEISH L STUART AG DEAN JCS PORTEOUS MEM BOXER M DAVIES SJ
Citation: Jr. Gray et al., LIFE EXPECTANCY IN BRITISH MARFAN-SYNDROME POPULATIONS, Clinical genetics, 54(2), 1998, pp. 124-128
INTELLIGENCE AND DEVELOPMENT IN AARSKOG-SYNDROME
Authors: LOGIE LJ PORTEOUS MEM
Citation: Lj. Logie et Mem. Porteous, INTELLIGENCE AND DEVELOPMENT IN AARSKOG-SYNDROME, Archives of Disease in Childhood, 79(4), 1998, pp. 359-360
PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE BY DIRECT MUTATION SCREENING - UPTAKE OF TESTING AND CHARACTERISTICS OF TEST APPLICANTS
Authors: HOLLOWAY S PORTEOUS MEM FITZPATRICK DR CROSBIE AE CETNARSKYJ R WARNER J BARRON L
Citation: S. Holloway et al., PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE BY DIRECT MUTATION SCREENING - UPTAKE OF TESTING AND CHARACTERISTICS OF TEST APPLICANTS, Journal of Medical Genetics, 34, 1997, pp. 601-601
THE ACTIVIN RECEPTOR-LIKE KINASE-1 GENE - GENOMIC STRUCTURE AND MUTATIONS IN HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-2
Authors: BERG JN GALLIONE CJ STENZEL TT JOHNSON DW ALLEN WP SCHWARTZ CE JACKSON CE PORTEOUS MEM MARCHUK DA
Citation: Jn. Berg et al., THE ACTIVIN RECEPTOR-LIKE KINASE-1 GENE - GENOMIC STRUCTURE AND MUTATIONS IN HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-2, American journal of human genetics, 61(1), 1997, pp. 60-67
MUTATIONS IN THE ACTIVIN RECEPTOR-LIKE KINASE-1 GENE IN HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-2
Authors: JOHNSON DW BERG JN BALDWIN MA GALLIONE CJ MARONDEL I YOON SJ STENZEL TT SPEER M PERICAKVANCE MA DIAMOND A GUTTMACHER AE JACKSON CE ATTISANO L KUCHERLAPATI R PORTEOUS MEM MARCHUK DA
Citation: Dw. Johnson et al., MUTATIONS IN THE ACTIVIN RECEPTOR-LIKE KINASE-1 GENE IN HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-2, Nature genetics, 13(2), 1996, pp. 189-195
CLINICAL HETEROGENEITY IN HEREDITARY HEMORRHAGIC TELANGIECTASIA - AREPULMONARY ARTERIOVENOUS-MALFORMATIONS MORE COMMON IN FAMILIES LINKED TO ENDOGLIN
Authors: BERG JN GUTTMACHER AE MARCHUK DA PORTEOUS MEM
Citation: Jn. Berg et al., CLINICAL HETEROGENEITY IN HEREDITARY HEMORRHAGIC TELANGIECTASIA - AREPULMONARY ARTERIOVENOUS-MALFORMATIONS MORE COMMON IN FAMILIES LINKED TO ENDOGLIN, Journal of Medical Genetics, 33(3), 1996, pp. 256-257
FURTHER EVIDENCE OF GENETIC-HETEROGENEITY IN HEREDITARY HYDRONEPHROSIS
Authors: MCHALE D PORTEOUS MEM WENTZEL J BURN J
Citation: D. Mchale et al., FURTHER EVIDENCE OF GENETIC-HETEROGENEITY IN HEREDITARY HYDRONEPHROSIS, Clinical genetics, 50(6), 1996, pp. 491-493
A 2ND LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME-12
Authors: JOHNSON DW BERG JN GALLIONE CJ MCALLISTER KA WARNER JP HELMBOLD EA MARKEL DS JACKSON CE PORTEOUS MEM MARCHUK DA
Citation: Dw. Johnson et al., A 2ND LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME-12, PCR methods and applications, 5(1), 1995, pp. 21-28
SCREENING OF MARFAN-SYNDROME PATIENTS FOR MUTATIONS IN THE FIBRILLIN (FBN1) GENE
Authors: HAYWARD C LOGIE LJ PORTEOUS MEM BROCK DJH
Citation: C. Hayward et al., SCREENING OF MARFAN-SYNDROME PATIENTS FOR MUTATIONS IN THE FIBRILLIN (FBN1) GENE, Journal of Medical Genetics, 32(2), 1995, pp. 137-137
A 2ND LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME-12
Authors: JOHNSON DW BERG JN GALLIONE CJ MCALLISTER KA WARNER JP HELMBOLD EA MARKEL DS JACKSON CE PORTEOUS MEM MARCHUK DA
Citation: Dw. Johnson et al., A 2ND LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME-12, American journal of human genetics, 57(4), 1995, pp. 1116-1116
IDENTIFICATION OF A NOVEL NONSENSE MUTATION IN THE FIBRILLIN GENE (FBN1) USING NONISOTOPIC TECHNIQUES
Authors: HAYWARD C PORTEOUS MEM BROCK DJH
Citation: C. Hayward et al., IDENTIFICATION OF A NOVEL NONSENSE MUTATION IN THE FIBRILLIN GENE (FBN1) USING NONISOTOPIC TECHNIQUES, Human mutation, 3(2), 1994, pp. 159-162
2 NOVEL MUTATIONS AND A NEUTRAL POLYMORPHISM IN EGF-LIKE DOMAINS OF THE FIBRILLIN GENE (FBN1) - SSCP SCREENING OF EXONS 15-21 IN MARFAN-SYNDROME PATIENTS
Authors: HAYWARD C RAE AL PORTEOUS MEM LOGIE LJ BROCK DJH
Citation: C. Hayward et al., 2 NOVEL MUTATIONS AND A NEUTRAL POLYMORPHISM IN EGF-LIKE DOMAINS OF THE FIBRILLIN GENE (FBN1) - SSCP SCREENING OF EXONS 15-21 IN MARFAN-SYNDROME PATIENTS, Human molecular genetics, 3(2), 1994, pp. 373-375
A NOVEL MUTATION IN THE FIBRILLIN GENE (FBN1) IN FAMILIAL ARACHNODACTYLY
Authors: HAYWARD C PORTEOUS MEM BROCK DJH
Citation: C. Hayward et al., A NOVEL MUTATION IN THE FIBRILLIN GENE (FBN1) IN FAMILIAL ARACHNODACTYLY, Molecular and cellular probes, 8(4), 1994, pp. 325-327
PRENATAL-DIAGNOSIS OF FRAGILE-X-SYNDROME - MANAGEMENT OF THE MALE FETUS WITH A PREMUTATION
Authors: STRAIN L PORTEOUS MEM GOSDEN CM ELLIS PM NEILSON JP BONTHRON DT
Citation: L. Strain et al., PRENATAL-DIAGNOSIS OF FRAGILE-X-SYNDROME - MANAGEMENT OF THE MALE FETUS WITH A PREMUTATION, Prenatal diagnosis, 14(6), 1994, pp. 469-474
ISOLATION AND CHARACTERIZATION OF THE FACIOGENITAL DYSPLASIA (AARSKOG-SCOTT SYNDROME) GENE - A PUTATIVE RHO RAC GUANINE-NUCLEOTIDE EXCHANGEFACTOR/
Authors: PASTERIS NG CADLE A LOGIE LJ PORTEOUS MEM SCHWARTZ CE STEVENSON RE GLOVER TW WILROY RS GORSKI JL
Citation: Ng. Pasteris et al., ISOLATION AND CHARACTERIZATION OF THE FACIOGENITAL DYSPLASIA (AARSKOG-SCOTT SYNDROME) GENE - A PUTATIVE RHO RAC GUANINE-NUCLEOTIDE EXCHANGEFACTOR/, Cell, 79(4), 1994, pp. 669-678
PRENATAL-DIAGNOSIS OF FRAGILE-X SYNDROME - MANAGEMENT OF THE MALE FETUS WITH A PREMUTATION
Authors: STRAIN L PORTEOUS MEM BONTHRON DT
Citation: L. Strain et al., PRENATAL-DIAGNOSIS OF FRAGILE-X SYNDROME - MANAGEMENT OF THE MALE FETUS WITH A PREMUTATION, Journal of Medical Genetics, 31(2), 1994, pp. 170-170
GENETIC-HETEROGENEITY IN HEREDITARY HEMORRHAGIC TELANGIECTASIA
Authors: PORTEOUS MEM CURTIS A WILLIAMS O MARCHUK D BHATTACHARYA SS BURN J
Citation: Mem. Porteous et al., GENETIC-HETEROGENEITY IN HEREDITARY HEMORRHAGIC TELANGIECTASIA, Journal of Medical Genetics, 31(12), 1994, pp. 925-926
ALPHA-THALASSEMIA MENTAL-RETARDATION (ATR-X) - AN ATYPICAL FAMILY
Authors: LOGIE LJ GIBBONS RJ HIGGS DR BROWN JK PORTEOUS MEM
Citation: Lj. Logie et al., ALPHA-THALASSEMIA MENTAL-RETARDATION (ATR-X) - AN ATYPICAL FAMILY, Archives of Disease in Childhood, 70(5), 1994, pp. 439-440
Risultati: 1-20 |