Per ulteriori informazioni selezionare i riferimenti di interesse.
Complete form of X-linked congenital stationary night blindness: Refined mapping and evidence of genetic homogeneity
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Identification of syt-ssx fusion transcripts in both epithelial and spindle cell components of biphasic synovial sarcoma in small tissue samples isolated by membrane-based laser microdissection
VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants
HUMAN GENETICS
Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location
JOURNAL OF MEDICAL GENETICS
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, causeX-linked complete congenital stationary night blindness
NATURE GENETICS
Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F
CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE
Detection of a variant SYT-SSX1 fusion in a case of predominantly epithelioid synovial sarcoma
MOLECULAR DIAGNOSIS
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity
EUROPEAN JOURNAL OF HUMAN GENETICS
Coding region intron/exon organization, alternative splicing, and X-chromosome inactivation of the KRAB/FPB-domain-containing human zinc finger gene ZNF41
CYTOGENETICS AND CELL GENETICS
Two new cases of papillary renal cell carcinoma with t(X;1)(p11;q21) in females
CANCER GENETICS AND CYTOGENETICS
Nonsyndromic X-linked mental retardation: Mapping of MRX58 to the pericentromeric region
AMERICAN JOURNAL OF MEDICAL GENETICS
X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3
AMERICAN JOURNAL OF MEDICAL GENETICS
X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
AMERICAN JOURNAL OF MEDICAL GENETICS
Renal cell carcinomas in children and young adults - Increased incidence of papillary architecture and unique subtypes
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
Dual colour fluorescence in-situ hybridization to paraffin-embedded samples to deduce the presence of the der(X)t(X;18)(p11.2;q11.2) and involvement of either the SSX1 or SSX2 gene: A diagnostic and prognostic aid for synovial sarcoma
JOURNAL OF PATHOLOGY
Synovial sarcoma specific translocation on associated with both epithelialand spindle cell components
INTERNATIONAL JOURNAL OF CANCER
TRANSLOCATION (X-18) IN A BIPHASIC SYNOVIAL SARCOMA WITH MORPHOLOGIC FEATURES OF NEURAL DIFFERENTIATION
Diagnostic molecular pathology
MASKED T(X-18)(P11-Q11) IN A BIPHASIC SYNOVIAL SARCOMA REVEALED BY FISH AND RT-PCR
Genes, chromosomes & cancer
HYPOMELANOSIS OF ITO - A STUDY OF 76 INFANTILE CASES
Brain & development
TRANSLOCATION (X-1) REVEALS METASTASIS 31 YEARS AFTER RENAL-CELL CARCINOMA
Cancer genetics and cytogenetics
LETTER TO THE EDITOR - INCONTINENTIA PIGMENTI VERSUS HYPOMELANOSIS OFITO - THE WHYS AND WHEREFORES OF A CONFUSING ISSUE
American journal of medical genetics
RENAL-CELL CARCINOMA WITH X-1 TRANSLOCATION IN A CHILD WITH KLINEFELTER-SYNDROME
American journal of medical genetics
CLCN5 MUTATION SER244LEU IS ASSOCIATED WITH X-LINKED RENAL-FAILURE WITHOUT X-LINKED RECESSIVE HYPOPHOSPHATEMIC RICKETS
Kidney international
CHROMOSOME TRANSLOCATIONS IN SARCOMAS AND THE ANALYSIS OF PARAFFIN-EMBEDDED MATERIAL
Journal of pathology
DUAL-COLOR FLUORESCENCE IN-SITU HYBRIDIZATION ANALYSIS OF SYNOVIAL SARCOMA
Journal of pathology
CHARACTERIZATION OF AN INVERTED X-CHROMOSOME (P11.2Q21.3) ASSOCIATED WITH MENTAL-RETARDATION USING FISH
Journal of Medical Genetics
A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX55) IS LOCATEDIN XP11
Annales de genetique
CHARACTERIZATION OF X-17(Q12-P13) TRANSLOCATION BREAKPOINTS IN A FEMALE-PATIENT WITH HYPOMELANOSIS OF ITO AND CHOROID-PLEXUS PAPILLOMA
European journal of human genetics
CHARACTERIZATION OF RENAL CHLORIDE CHANNEL, CLCN5, MUTATIONS IN HYPERCALCIURIC NEPHROLITHIASIS (KIDNEY-STONES) DISORDERS
Human molecular genetics
MUTATIONS OF CLCN5 IN JAPANESE CHILDREN WITH IDIOPATHIC LOW-MOLECULAR-WEIGHT PROTEINURIA, HYPERCALCIURIA AND NEPHROCALCINOSIS
Kidney international
IDIOPATHIC LOW-MOLECULAR-WEIGHT PROTEINURIA ASSOCIATED WITH HYPERCALCIURIC NEPHROCALCINOSIS IN JAPANESE CHILDREN IS DUE TO MUTATIONS OF THERENAL CHLORIDE CHANNEL (CLCN5)
The Journal of clinical investigation
ISOLATION AND CHARACTERIZATION OF THE MOUSE HOMOLOG OF SYT, A GENE IMPLICATED IN THE DEVELOPMENT OF HUMAN SYNOVIAL SARCOMAS
Oncogene
COSMIDS MAP 2 INCONTINENTIA PIGMENTI TYPE-1 (IP1) TRANSLOCATION BREAKPOINTS TO A 180-KB REGION WITHIN A 1.2-MB YAC CONTIG
Genomics
MOLECULAR-CLONING OF THE PAPILLARY RENAL-CELL CARCINOMA-ASSOCIATED TRANSLOCATION (X-1)(P11-Q21) BREAKPOINT
Cytogenetics and cell genetics
A NOVEL KRUPPEL-ASSOCIATED BOX-CONTAINING THE SSX GENE (SSX3) ON THE HUMAN X-CHROMOSOME IS NOT IMPLICATED IN T(X-18)-POSITIVE SYNOVIAL SARCOMAS
Cytogenetics and cell genetics
REGIONAL LOCALIZATION OF 2 MRX GENES TO XQ28 (MRX28) AND TO XP11.4-XP22.12 (MRX33)
American journal of medical genetics
FUSION OF THE TRANSCRIPTION FACTOR TFE3 GENE TO A NOVEL GENE, PRCC, IN T(X-1)(P11-Q21)-POSITIVE PAPILLARY RENAL-CELL CARCINOMAS
Proceedings of the National Academy of Sciences of the United Statesof America
HYPOMELANOSIS OF ITO AND X-AUTOSOME TRANSLOCATIONS - A UNIFYING HYPOTHESIS
Journal of Medical Genetics
INCONTINENTIA PIGMENTI NOMENCLATURE
American journal of human genetics
INCONTINENTIA PIGMENTI - TRANSMISSION FROM FATHER TO DAUGHTER
Journal of the American Academy of Dermatology
INCONTINENTIA PIGMENTI ACHROMIANS (HYPOMELANOSIS OF ITO, MIM 146150) - FURTHER EVIDENCE OF LOCALIZATION AT XP11
American journal of medical genetics