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MISSENSE MUTATIONS IN THE COL4A5 GENE IN PATIENTS WITH X-LINKED ALPORT SYNDROME
Human mutation
RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN, AND BRITISH FAMILIES
Human mutation
IDENTIFICATION OF PKDL, A NOVEL POLYCYSTIC KIDNEY-DISEASE 2-LIKE GENEWHOSE MURINE HOMOLOG IS DELETED IN MICE WITH KIDNEY AND RETINAL DEFECTS
The Journal of biological chemistry
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - CLINICAL AND GENETIC-ASPECTS
JN. Journal of nephrology
3 NOVEL MUTATIONS OF THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Human mutation
ACE GENOTYPE IN ADPKD-1 - A MARKER FOR A FASTER PROGRESSION TO END-STAGE RENAL-FAILURE (ESRF)
Journal of the American Society of Nephrology
MOLECULAR DNA-BASED DIAGNOSTICS IN A LARGE SERIES OF EUROPEAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) - AN UPDATE
Journal of the American Society of Nephrology
ALPORT-SYNDROME - IS THERE A GENOTYPE-PHENOTYPE RELATIONSHIP
Nephrology, dialysis, transplantation
DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA)
Molecular and cellular probes
RAPID DNA-BASED PRENATAL-DIAGNOSIS BY GENETIC-LINKAGE IN 3 FAMILIES WITH ALPORTS-SYNDROME
American journal of kidney diseases
GENETIC-COUNSELING, DNA-BASED INVESTIGATIONS AND PRESYMPTOMATIC MOLECULAR DIAGNOSIS IN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) AND ALPORT-SYNDROME (AS) - AN UPDATE FROM THE EXPERIENCE IN VERONA, ITALY
American journal of human genetics
CONGENITAL HYPERTROPHY OF THE RETINAL-PIGMENT EPITHELIUM (CHRPE) AND FAMILIAL ADENOMATOUS POLYPOSIS (FAP)
Acta ophthalmologica Scandinavica
RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN AND BRITISH FAMILIES
Journal of the American Society of Nephrology
DETECTION OF 2 DIFFERENT NONSENSE MUTATIONS IN EXON-44 OF THE PKD1 GENE IN 2 UNRELATED ITALIAN FAMILIES WITH SEVERE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Nephrology, dialysis, transplantation
A COMMON POLYMORPHISM IN EXON-46 OF THE HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-1 GENE (PKD1)
Molecular and cellular probes
AN ITALIAN FAMILY WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE UNLINKED TO EITHER THE PKD1 OR PKD2 GENE
American journal of kidney diseases
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AN ITALIAN FAMILY CARRYING A NOVEL NONSENSE MUTATION AND 2 MISSENSE CHANGES IN EXON-44 AND EXON-45 OF THE PKD1 GENE
American journal of medical genetics
A NOVEL NONSENSE MUTATION IN THE PKD1 GENE (C3817T) IS ASSOCIATED WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A LARGE 3-GENERATION ITALIAN FAMILY
Human molecular genetics
COMPARISON OF HETERODUPLEX AND SINGLE-STRAND CONFORMATION ANALYSES, FOLLOWED BY ETHIDIUM FLUORESCENCE VISUALIZATION, FOR THE DETECTION OF MUTATIONS IN 4 HUMAN GENES
Molecular and cellular probes
ALPORT SYNDROME - NEW GENETIC PERSPECTIVE S ON CLINICAL AND HISTOLOGICAL DIAGNOSIS
Rivista italiana di pediatria
GENE LINKAGE ANALYSIS AND DNA-BASED DETECTION OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A NEWBORN-INFANT - CASE-REPORT
Journal of perinatal medicine
ERRONEOUS GENETIC RISK ASSESSMENT OF ALPORT SYNDROME
Lancet
A NOVEL MISSENSE MUTATION IN EXON-3 OF THE COL4A5 GENE ASSOCIATED WITH LATE-ONSET ALPORT SYNDROME
Clinical genetics
NOVEL NONSENSE MUTATIONS IN THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD)
American journal of human genetics
RAPID DNA-BASED PRENATAL-DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Archives of pediatrics & adolescent medicine
A NOVEL FRAMESHIFT DELETION IN TYPE-IV COLLAGEN ALPHA-5 GENE IN A JUVENILE-TYPE ALPORT SYNDROME PATIENT - AN ADENINE DELETION (2940 2943 DEL A) IN EXON 34 OF COL4A5/
Human mutation
SINGLE-BASE PAIR DELETIONS IN EXONS 39 AND 42 OF THE COL4A5 GENE IN ALPORT SYNDROME
Human molecular genetics
SKELETAL MALFORMATIONS AND POLYCYSTIC KIDNEY-DISEASE
Journal of Medical Genetics
PRENATAL TESTING IN A FETUS AT RISK FOR AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE AND AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA
American journal of medical genetics
MOLECULAR-GENETIC DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN A NEWBORN WITH BILATERAL CYSTIC KIDNEYS DETECTED PRENATALLY AND MULTIPLE SKELETAL MALFORMATIONS
Journal of Medical Genetics