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ANALYSIS OF A DEVELOPMENTAL GENE DELETED IN PATIENTS WITH WOLF-HIRSCHHORN-SYNDROME
European journal of human genetics
WHSC1, A 90 KB SET DOMAIN-CONTAINING GENE, EXPRESSED IN EARLY DEVELOPMENT AND HOMOLOGOUS TO THE DROSOPHILA DYSMORPHY GENE MAPS IN THE WOLF-HIRSCHHORN-SYNDROME CRITICAL REGION AND IS FUSED TO IGH IN T(4-14) MULTIPLE-MYELOMA (VOL 7, PG 1071, 1998)
Human molecular genetics (Print)
WHSC1, A 90 KB SET DOMAIN-CONTAINING GENE, EXPRESSED IN EARLY DEVELOPMENT AND HOMOLOGOUS TO A DROSOPHILA DYSMORPHY GENE MAPS IN THE WOLF-HIRSCHHORN-SYNDROME CRITICAL REGION AND IS FUSED TO IGH IN T(4-14) MULTIPLE-MYELOMA
Human molecular genetics (Print)
FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS)
Human molecular genetics (Print)
CLINICAL-DIAGNOSIS OF HETEROZYGOUS DYSTROPHIN GENE DELETIONS BY FLUORESCENCE IN-SITU HYBRIDIZATION
Neuromuscular disorders
CHARACTERIZATION OF SCML1, A NEW GENE IN XP22, WITH HOMOLOGY TO DEVELOPMENTAL POLYCOMB GENES
Genomics
CENTROMERIC AND NONCENTROMERIC ADE2-SELECTABLE FRAGMENTATION VECTORS FOR YEAST ARTIFICIAL CHROMOSOMES IN AB1380
PCR methods and applications
A NOVEL HUMAN SERINE-THREONINE PHOSPHATASE RELATED TO THE DROSOPHILA RETINAL-DEGENERATION-C (RDGC) GENE IS SELECTIVELY EXPRESSED IN SENSORYNEURONS OF NEURAL CREST ORIGIN
Human molecular genetics
HIGH-RESOLUTION MAPPING BY YAC FRAGMENTATION OF A 2.5-MB XP22 REGION CONTAINING THE HUMAN RS, KFSD AND CLS DISEASE GENES
Mammalian genome
EXCLUSION OF PPEF AS THE GENE CAUSING X-LINKED JUVENILE RETINOSCHISIS
Human genetics
A CANDIDATE GENE FOR X-LINKED RETINOSCHISIS IN XP22
Journal of Medical Genetics
A GENOME-SEQUENCE BASED APPROACH TO COMPUTATIONAL AND EXPERIMENTAL CANDIDATE GENE ANALYSIS OF WOLF-HIRSCHHORN-SYNDROME
American journal of human genetics
IDENTIFICATION OF A CANDIDATE GENE FOR X-LINKED RETINOSCHISIS IN XP22
American journal of human genetics
REFINEMENT OF THE LOCALIZATION OF THE X-LINKED RETINOSCHISIS GENE
American journal of human genetics
ANALYSIS OF C-ELEGANS NEMATODES TRANSGENIC FOR THE START OF THE HD GENE WITH AND WITHOUT AN EXTENDED CAG-REPEAT
American journal of human genetics
THE DUCHENNE BECKER-MUSCULAR-DYSTROPHY DATA PAGES/
American journal of human genetics
AN XP22.1-P22.2 YAC CONTIG ENCOMPASSING THE DISEASE LOCI FOR RS, KFSD, CLS, HYP AND RP15 - REFINED LOCALIZATION OF RS
European journal of human genetics
IDENTIFICATION OF A HOT-SPOT FOR MICRODELETIONS IN PATIENTS WITH X-LINKED DEAFNESS TYPE-3 (DFN3) 900 KB PROXIMAL TO THE DFN3 GENE POU3F4
Human molecular genetics
SUBCELLULAR-LOCALIZATION OF THE HUNTINGTONS-DISEASE GENE-PRODUCT IN CELL-LINES BY IMMUNOFLUORESCENCE AND BIOCHEMICAL SUBCELLULAR FRACTIONATION
Human molecular genetics
APPLICATION OF IN-VITRO MYO-DIFFERENTIATION OF NONMUSCLE CELLS TO ENHANCE GENE-EXPRESSION AND FACILITATE ANALYSIS OF MUSCLE PROTEINS
Neuromuscular disorders
EXON MAPPING BY FIBER-FISH OR LR-PCR
Genomics
SCANNING FOR GENES IN LARGE GENOMIC REGIONS - COSMID-BASED EXON TRAPPING OF MULTIPLE EXONS IN A SINGLE-PRODUCT
Nucleic acids research
SPLICING MUTATIONS IN DMD BMD DETECTED BY RT-PCR/PTT - DETECTION OF A19AA INSERTION IN THE CYSTEINE-RICH DOMAIN OF DYSTROPHIN COMPATIBLE WITH BMD/
Journal of Medical Genetics
CLOSING IN ON THE RIEGER SYNDROME GENE ON 4Q25 - MAPPING TRANSLOCATION BREAKPOINTS WITHIN A 50-KB REGION
American journal of human genetics
APPARENT GENE CONVERSIONS INVOLVING THE SMN GENE IN THE REGION OF THESPINAL MUSCULAR-ATROPHY LOCUS ON CHROMOSOME-5
American journal of human genetics
HIGH-RESOLUTION DNA FIBER-FISH ON YEAST ARTIFICIAL CHROMOSOMES - DIRECT VISUALIZATION OF DNA-REPLICATION (VOL 10, PG 477, 1995)
Nature genetics
HIGH-RESOLUTION DNA FIBER-FISH ON YEAST ARTIFICIAL CHROMOSOMES - DIRECT VISUALIZATION OF DNA-REPLICATION
Nature genetics
RAPID DETECTION OF BRCA1 MUTATIONS BY THE PROTEIN TRUNCATION TEST
Nature genetics
POINT MUTATION SCREENING FOR 16 EXONS OF THE DYSTROPHIN GENE BY MULTIPLEX SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS
Human mutation
YEAST ARTIFICIAL CHROMOSOME CLONING OF THE XQ13.3-Q21.31 REGION AND FINE MAPPING OF A DELETION ASSOCIATED WITH CHOROIDEREMIA AND NONSPECIFIC MENTAL-RETARDATION
European journal of human genetics
EXPRESSION OF THE HUMAN DP-71 (APO-DYSTROPHIN-1) GENE FROM A 760-KB DMD-YAC TRANSFERRED TO MOUSE CELLS
European journal of human genetics
A PROVISIONAL TRANSCRIPT MAP OF THE SPINAL MUSCULAR-ATROPHY (SMA) CRITICAL REGION
European journal of human genetics
HIGH-RESOLUTION DNA FIBER-FISH FOR GENOMIC DNA MAPPING AND COLOR BAR-CODING OF LARGE GENES
Human molecular genetics
MOLECULAR-GENETIC ANALYSIS OF FAMILIAL EARLY-ONSET ALZHEIMERS-DISEASELINKED TO CHROMOSOME 14Q24.3
Human molecular genetics
2 POLYMORPHIC DINUCLEOTIDE REPEATS IN INTRON-44 OF THE DYSTROPHIN GENE
Human genetics
SOMATIC EXPANSION OF THE (CAG)(N) REPEAT IN HUNTINGTON DISEASE BRAINS
Human genetics
MORPHOLOGY OF A HUMAN-DERIVED YAC IN YEAST MEIOSIS
Chromosoma
SCANNING FOR GENES WITH A COSMID-BASED EXON TRAP VECTOR
American journal of human genetics
MAPPING TRANSLOCATION BREAKPOINTS IN RIEGER SYNDROME WITHIN A 200 KB REGION
American journal of human genetics
CONSTRUCTION OF A TRANSCRIPTION MAP IN THE REGION OF THE RETINOSCHISIS DISEASE GENE
American journal of human genetics
A POLYMORPHIC STS IN INTRON-44 OF THE DYSTROPHIN GENE
Human genetics
SPECIFIC ISOLATION OF 3'-TERMINAL EXONS OF HUMAN GENES BY EXON TRAPPING
Nucleic acids research
CONSTRUCTION OF A YAC CONTIG IN THE HUMAN XP22.1 REGION
Cytogenetics and cell genetics
FINE MAPPING OF KERATOSIS SPINULOSA DECALVANS (KFSD) IN XP22
Cytogenetics and cell genetics
ANALYSIS OF THE EXPANDING (CAG)N REPEAT IN THE DUTCH HUNTINGTONS-DISEASE PATIENT POPULATION
Cytogenetics and cell genetics
SEARCHING FOR GENES IN A 450 KB COSMID CONTIG NEAR THE HUNTINGTONS-DISEASE GENE
Cytogenetics and cell genetics
A SIMPLE AND RAPID METHOD FOR SEPARATING CO-CLONED YACS
Trends in genetics
A CA-REPEAT POLYMORPHISM NEAR DXS418 (P122)
Human molecular genetics
PROTEIN TRUNCATION TEST (PTT) FOR RAPID DETECTION OF TRANSLATION-TERMINATING MUTATIONS
Human molecular genetics
DEFINING THE PROXIMAL BORDER OF THE HUNTINGTON DISEASE CANDIDATE REGION BY MULTIPOINT RECOMBINATION ANALYSES
Genomics
ISOLATION OF YACS FROM THE HUMAN XP22 REGION
Cytogenetics and cell genetics
METHODS FOR PULSED-FIELD GEL-ELECTROPHORESIS
Applied biochemistry and biotechnology
BORDERLINE REPEAT EXPANSION IN HUNTINGTONS-DISEASE
Lancet
INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .1. TRENDS ACROSS THE CLINICAL GROUPS
Journal of Medical Genetics
INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .2. CORRELATIONS WITHIN INDIVIDUAL PATIENTS
Journal of Medical Genetics
INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .3. DIFFERENTIAL-DIAGNOSIS AND PROGNOSIS
Journal of Medical Genetics
DYNAMIC MUTATION IN DUTCH HUNTINGTONS-DISEASE PATIENTS - INCREASED PATERNAL REPEAT INSTABILITY EXTENDING TO WITHIN THE NORMAL SIZE RANGE
Journal of Medical Genetics
GENERAL APPLICABLE PROTEIN TRUNCATION TEST (PTT) TO DETECT TRANSLATION TERMINATING MUTATIONS
American journal of human genetics
GENETIC-LINKAGE AROUND X-LINKED RETINOSCHISIS (RS)
American journal of human genetics
RAPID SCREENING FOR POINT MUTATIONS IN DUCHENNE MUSCULAR-DYSTROPHY (DMD) USING A TRANSLATION-BASED METHOD
American journal of human genetics
ANALYSIS OF THE EXPANDING CAG-REPEAT IN THE DUTCH HUNTINGTONS-DISEASEPATIENT POPULATION
American journal of human genetics