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Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene
NEUROMUSCULAR DISORDERS
Combination antiretroviral therapy
ANTIRETROVIRAL THERAPY
Genomics and medicine: an anticipation. From Boolean Mendelian genetics tomultifactorial molecular medicine
COMPTES RENDUS DE L ACADEMIE DES SCIENCES SERIE III-SCIENCES DE LA VIE-LIFE SCIENCES
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy
CROATIAN MEDICAL JOURNAL
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation
NEUROLOGY
Introduction - Birth of a form of molecular medicine
BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
Increased frequency of cystic fibrosis Delta F508 mutation in bronchiectasis associated with rheumatoid arthritis
EUROPEAN RESPIRATORY JOURNAL
Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families
HUMAN HEREDITY
SEVERE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN SPANISH GYPSIES - FURTHER EVIDENCE FOR A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE
European journal of human genetics
DIRECT MOLECULAR-GENETIC DIAGNOSIS AND CARRIER IDENTIFICATION IN ONE EMERY-DREIFUSS MUSCULAR-DYSTROPHY FAMILY
European journal of human genetics
AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES IN PATIENTS FROM MADEIRA ISLAND - A CLINICAL AND GENETIC APPROACH
European journal of human genetics
MUTATIONS IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY AND THEIR EFFECTS ON EMERIN PROTEIN EXPRESSION
Human molecular genetics
NEUROMUSCULAR DISORDERS - GENE LOCATION
Neuromuscular disorders
NEUROMUSCULAR DISORDERS - GENE LOCATION
Neuromuscular disorders
BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE
Neuromuscular disorders
Relationships between nasal potential difference and respiratory function in adults with cystic fibrosis
EUROPEAN RESPIRATORY JOURNAL
MOLECULAR-BASIS OF PROCRASTINATION - CLON ING OF A GENE FOR HELP IN DECISION-MAKING
MS. Medecine sciences
Prenatal diagnosis of limb-girdle muscular dystrophy Type 2C
PRENATAL DIAGNOSIS
LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE
Neurology
LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)
Brain (Print)
COMPOUND HETEROZYGOTES FOR A CF MUTATION AND THE 5T SPLICE VARIANT ASSOCIATED WITH VARIABLE PRESENTATIONS IN A FRENCH FAMILY
Annales de genetique
Novel double mutant CF allele identified in a cystic fibrosis patient withmeconium ileus.
ANNALES DE GENETIQUE
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Human mutation
NEUROMUSCULAR DISORDERS - GENE LOCATION
Neuromuscular disorders
A POINT MUTATION IN THE GLYCEROL KINASE GENE ASSOCIATED WITH A DELETION IN THE DYSTROPHIN GENE IN A FAMILIAL X-LINKED MUSCULAR-DYSTROPHY - NONCONTIGUOUS GENE SYNDROME INVOLVING BECKER MUSCULAR-DYSTROPHY AND GLYCEROL KINASE LOCI
Neuromuscular disorders
NEUROMUSCULAR DISORDERS - GENE LOCATION
Neuromuscular disorders
NEUROMUSCULAR DISORDERS - GENE LOCATION
Neuromuscular disorders
POCKET ENCYCLOPEDIA OF BIOLOGICALLY CORRE CT REPRODUCTION
MS. Medecine sciences
A BIOCHEMICAL, GENETIC, AND CLINICAL SURVEY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES IN TURKEY
Annals of neurology
PRIMARY ADHALINOPATHY (ALPHA-SARCOGLYCANOPATHY) - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATION IN 20 PATIENTS WITH AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
Neurology
MUTATIONAL DIVERSITY AND HOT-SPOTS IN THE ALPHA-SARCOGLYCAN GENE IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY (LGMD2D)
Journal of Medical Genetics
ABSENCE OF ALPHA-SARCOGLYCAN AND NOVEL MISSENSE MUTATIONS IN THE ALPHA-SARCOGLYCAN GENE IN A YOUNG BRITISH GIRL WITH MUSCULAR-DYSTROPHY
Developmental Medicine and Child Neurology
SPECTRUM OF CFTR MUTATIONS IN ARGENTINE CYSTIC-FIBROSIS PATIENTS
Clinical genetics
MOLECULAR DIAGNOSIS OF CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS - ANALYSES OF THE CFTR GENE IN 64 FRENCH PATIENTS
Annales de genetique
PREVALENCE, MALE GERM-LINE ORIGIN AND NEW PATTERNS OF INVERSIONS IN HEMOPHILIA-A
Annales de genetique
ANCESTRAL HAPLOTYPES AS GENETIC CLOCKS
American journal of human genetics
PARTICULAR ASPECTS OF THE MOLECULAR-BASIS OF CYSTIC-FIBROSIS IN COLOMBIA
American journal of human genetics
PENETRANCE OF THE FSHD MUTATION DIFFERS ACCORDING TO THE D4Z4 REPEAT NUMBER
American journal of human genetics
1283-DEL-A - A NOVEL MUTATION IN EXON-8 OF THE CYSTIC-FIBROSIS GENE
Human heredity
IDENTIFICATION OF 3 NOVEL MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IN ARGENTINEAN CF PATIENTS
Human mutation
NOVEL MISSENSE MUTATION IN EXON-16 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE IDENTIFIED IN CBAVD PATIENTS
Human mutation
ANALYSIS OF ALTERNATIVE SPLICING PATTERNS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE USING MESSENGER-RNA DERIVED FROM LYMPHOBLASTOID-CELLS OF CYSTIC-FIBROSIS PATIENTS
European journal of human genetics
A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA
Human molecular genetics
FROM ADHALINOPATHIES TO ALPHA-SARCOGLYCANOPATHIES - AN OVERVIEW
Neuromuscular disorders
NEUROMUSCULAR DISORDERS - GENE LOCATION
Neuromuscular disorders
GENOTYPE-PHENOTYPE RELATIONSHIPS IN A COHORT OF ADULT CYSTIC-FIBROSISPATIENTS
The European respiratory journal
NEUROSENSORY HEARING-LOSS IN SECONDARY ADHALINOPATHY
Neuropediatrics
ADHALIN-DEFICIENT MUSCULAR-DYSTROPHIES - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATIONS
Neurology
EFFECTS OF ZIDOVUDINE-SELECTED HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 REVERSE-TRANSCRIPTASE AMINO-ACID SUBSTITUTIONS ON PROCESSIVE DNA-SYNTHESIS AND VIRAL REPLICATION
Journal of virology
ABSENCE OF GAMMA-SARCOGLYCAN (35-DAG) IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY LINKED TO CHROMOSOME 13Q12
FEBS letters
RHEUMATOID-ARTHRITIS AND BRONCHIECTASIS - EVIDENCE FOR MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE
Arthritis and rheumatism
SEQUENCE-ANALYSIS OF THE CAG TRIPLET REPEATS REGION IN THE HUNTINGTONDISEASE GENE (IT15) IN SEVERAL MAMMALIAN-SPECIES
Annales de genetique
PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS
American journal of human genetics
A SPLICING MUTATION IN INTRON 16 OF THE CYSTIC-FIBROSIS TRANSMEMBRANECONDUCTANCE REGULATOR GENE, ASSOCIATED WITH SEVERE DISEASE, IS COMMONON REUNION-ISLAND
Human heredity
PRIMARY ADHALINOPATHY - A COMMON-CAUSE OF AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY OF VARIABLE SEVERITY
Nature genetics
MUTATION HETEROGENEITY OF CYSTIC-FIBROSIS IN FRANCE - SCREENING BY DENATURING GRADIENT GEL-ELECTROPHORESIS USING PSORALEN-MODIFIED OLIGONUCLEOTIDE
Human mutation
SCREENING FOR MUTATIONS IN FACTOR-VIII GENE USING THE SINGLE-STRAND CONFORMATION POLYMORPHISM
Human mutation
NEUROMUSCULAR DISORDERS - GENE LOCATION
Neuromuscular disorders
NEUROMUSCULAR DISORDERS - GENE LOCATION
Neuromuscular disorders
MOLECULAR-GENETICS OF MYOPATHIES - RECENT ADVANCES
Archives de pediatrie
A YAC CONTIG AND AN EST MAP IN THE PERICENTROMERIC REGION OF CHROMOSOME-13 SURROUNDING THE LOCI FOR NEUROSENSORY NONSYNDROMIC DEAFNESS (DFNB1 AND DFNA3) AND LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2C (LGMD2C)
Genomics
3 NOVEL SEQUENCE VARIATIONS IN THE 5' UPSTREAM REGION OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE - 2 POLYMORPHISMS AND ONE PUTATIVE MOLECULAR DEFECT
Human genetics
A T-TO-G-MUTATION IN THE POLYPYRIMIDINE TRACT OF THE 2ND INTRON OF THE HUMAN BETA-GLOBIN GENE REDUCES IN-VITRO SPLICING EFFICIENCY - EVIDENCE FOR AN INCREASED HNRNP-C INTERACTION
Nucleic acids research
HIV-1 DNA IN FIBROBLAST-CULTURES INFECTED WITH URINE FROM HIV-SEROPOSITIVE CYTOMEGALOVIRUS (CMV) EXCRETORS
Archives of virology
LAMININ ABNORMALITY IN SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
Laboratory investigation
DIAGNOSIS OF SPORADIC HUNTINGTONS-DISEASE
Journal of the neurological sciences
SEQUENCE-ANALYSIS OF THE CCG POLYMORPHIC REGION ADJACENT TO THE CAG TRIPLET REPEAT OF THE HD GENE IN NORMAL AND HD CHROMOSOMES
Journal of Medical Genetics
SEVERE CYSTIC-FIBROSIS PHENOTYPE IN A DELTA-F508 3272-26A-]G COMPOUNDHETEROZYGOTE
Journal of Medical Genetics
4 NEW MUTATIONS IN THE NADH-CYTOCHROME B5 REDUCTASE GENE FROM PATIENTS WITH RECESSIVE CONGENITAL METHEMOGLOBINEMIA TYPE-II
Blood
DIAGNOSTIC USEFULNESS OF THE POLYMORPHISM OF THE GT DINUCLEOTIDE AND THE POLYTHYMIDINE TRACT IN INTRON-8 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE
Annales de genetique
ALLELIC AND PHENOTYPIC HETEROGENEITY OF PRIMARY ADHALINOPATHIES
American journal of human genetics
REFINED MAPPING OF THE LGMD2C LOCUS TO A 1-CENTIMORGAN INTERVAL
American journal of human genetics
CHARACTERIZATION OF HETEROGENEOUS ADHALIN-DEFICIENT LIMB-GIRDLE MUSCULAR IN THE UNITED-STATES
American journal of human genetics
IDENTIFICATION OF A NOVEL MISSENSE MUTATION G239R IN EXON 6A OF THE CFTR GENE
Human heredity
A MISSENSE MUTATION (F87L) IN EXON-3 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE
Human mutation
IDENTIFICATION OF A NEW FRAMESHIFT MUTATION (3724 DELG) IN EXON-19 OFTHE CFTR GENE
Human mutation
A NEW MISSENSE MUTATION (G27E) IN EXON-2 OF THE CFTR GENE IN A MILDLYAFFECTED CYSTIC-FIBROSIS PATIENT
Human molecular genetics
ADHALIN GENE POLYMORPHISM
Human molecular genetics
EXPRESSION OF DYSTROPHIN-ASSOCIATED PROTEINS TN DYSTROPHIN-POSITIVE MUSCLE-FIBERS (REVERTANTS) IN DUCHENNE MUSCULAR-DYSTROPHY
Neuromuscular disorders
NEUROMUSCULAR DISORDERS - GENE LOCATION
Neuromuscular disorders
EFFECT OF TRACE CARBON ON THE UV-INDUCED BEHAVIOR OF ALUMINUM NITRIDECERAMICS
Journal of materials research
GENETIC-HETEROGENEITY OF SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH ADHALIN (50 KDA DYSTROPHY-ASSOCIATED GLYCOPROTEIN) DEFICIENCY
Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie
INTERPLAY BETWEEN A NEGATIVE ELEMENT AND A CARG BOX IN THE HUMAN DYSTROPHIN MUSCULAR PROMOTER
Journal of cellular biochemistry
ADENOVIRUS-MEDIATED TRANSFER OF A HUMAN DYSTROPHIN GENE TO SKELETAL-MUSCLE OF MDX MOUSE
Journal of cellular biochemistry
AT LEAST 5 POLYMORPHIC MUTANTS ACCOUNT FOR THE PREVALENCE OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY IN ALGERIA
Human genetics
UNEXPECTED INACTIVATION OF ACCEPTOR CONSENSUS SPLICE SEQUENCE BY A -3C TO T-TRANSITION IN INTRON-2 OF THE CFTR GENE
Human genetics
SKEWED INACTIVATION OF AN X-CHROMOSOME DELETED AT THE DYSTROPHIN GENEIN AN ASYMPTOMATIC MOTHER AND HER AFFECTED DAUGHTER
Human genetics
MOLECULAR-BIOLOGY AND PRENATAL-DIAGNOSIS
European journal of obstetrics, gynecology, and reproductive biology
THERAPY OTHER THAN REVERSE-TRANSCRIPTASE INHIBITORS FOR HIV-INFECTION
Clinics in laboratory medicine
ADDITIONAL CASE OF FEMALE MONOZYGOTIC TWINS DISCORDANT FOR THE CLINICAL MANIFESTATIONS OF DUCHENNE MUSCULAR-DYSTROPHY DUE TO OPPOSITE X-CHROMOSOME INACTIVATION
American journal of medical genetics
MISSENSE MUTATIONS IN THE ADHALIN GENE LINKED TO AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
Cell
RESISTANCE TO 2',3'-DIDEOXYCYTIDINE CONFERRED BY A MUTATION IN CODON-65 OF THE HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 REVERSE-TRANSCRIPTASE
Antimicrobial agents and chemotherapy
MUTATIONS IN THE DAX-1 GENE GIVE RISE TO BOTH X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM
Nature
LINKAGE ANALYSIS OF FAMILIES WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY IN MOROCCO INDICATES GENETIC HOMOGENEITY OF THE DISEASE IN NORTH-AFRICA
Journal of Medical Genetics
IMMUNOHISTOCHEMICAL ANALYSIS OF DYSTROPHIN-ASSOCIATED PROTEINS IN BECKER DUCHENNE MUSCULAR-DYSTROPHY WITH HUGE IN-FRAME DELETIONS IN THE NH2-TERMINAL AND ROD DOMAINS OF DYSTROPHIN/
The Journal of clinical investigation
HETEROGENEITY OF THE RAT NADH-CYTOCHROME-B(5)-REDUCTASE TRANSCRIPTS RESULTING FROM MULTIPLE ALTERNATIVE FIRST EXONS
European journal of biochemistry
LONG-TERM CORRECTION OF MOUSE DYSTROPHIC DEGENERATION BY ADENOVIRUS-MEDIATED TRANSFER OF A MINIDYSTROPHIN GENE
Nature genetics
SIMULTANEOUS DETECTION OF THE 2 PREVALENT MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN REUNION ISLAND
Human mutation
USE OF CHEMICAL CLAMPS IN DENATURING GRADIENT GEL-ELECTROPHORESIS - APPLICATION IN THE DETECTION OF THE MOST FREQUENT MEDITERRANEAN BETA-THALASSEMIC MUTATIONS
PCR methods and applications
SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH THE DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN MAPS TO CHROMOSOME-13Q12
Human molecular genetics