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Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity
JOURNAL OF HUMAN GENETICS
X-linked juvenile retinoschisis: mutations at the retinoschisis and Norriedisease gene loci?
JOURNAL OF HUMAN GENETICS
Retinopathy of prematurity: Mutations in the Norrie disease gene and the risk of progression to advanced stages
PEDIATRICS INTERNATIONAL
Association analysis of the functional monoamine oxidase a gene promoter polymorphism in psychiatric disorders
AMERICAN JOURNAL OF MEDICAL GENETICS
Two Thai families with Norrie disease (ND): Association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier
AMERICAN JOURNAL OF MEDICAL GENETICS
A neurochemical perspective on monoamine oxidase inhibitors
PSYCHIATRIC ANNALS
Coats' disease and congenital retinoschisis in a single eye: A case reportand DNA analysis
OPHTHALMOLOGICA
Intracellular folding pathway of the cystine knot-containing glycoprotein hormone alpha-subunit
BIOCHEMISTRY
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13
AMERICAN JOURNAL OF HUMAN GENETICS
Cracking the auditory genetic code: Part II. Syndromic hereditary hearing impairment
AMERICAN JOURNAL OF OTOLOGY
Evidence for a new locus for X-linked retinitis pigmentosa (RP23)
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Evaluation of the Norrie disease gene in a family with Incontinentia pigmenti
OPHTHALMIC RESEARCH
A promoter polymorphism in the monoamine oxidase A gene and its relationships to monoamine metabolite concentrations in CSF of healthy volunteers
JOURNAL OF PSYCHIATRIC RESEARCH
Localization of disulfide bonds in the cystine knot domain of human von Willebrand factor
JOURNAL OF BIOLOGICAL CHEMISTRY
Lack of association of the Norrie disease gene with retinoschisis phenotype
JAPANESE JOURNAL OF OPHTHALMOLOGY
Norrie disease and exudative vitreoretinopathy in families with affected female carriers
EUROPEAN JOURNAL OF OPHTHALMOLOGY
Cloning and characterization of UXT, a novel gene in human Xp11, which is widely and abundantly expressed in tumor tissue
GENOMICS
Analysis of the 5 ' regulatory region of the human Norrie's disease gene: evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression
GENE
Association between monoamine oxidase A activity in human male shin fibroblasts and genotype of the MAOA promoter-associated variable number tandem repeat
HUMAN GENETICS
Loss of anterior chamber-associated immune deviation (ACAID) in aged retinal degeneration (rd) mice
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
A mouse cerberus/Dan-related gene family
DEVELOPMENTAL BIOLOGY
Ophthalmology in the post-genomic era
BRITISH JOURNAL OF OPHTHALMOLOGY
Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder
BIOLOGICAL PSYCHIATRY
Monoamine oxidase in neuropsychiatry and behavior
AMERICAN JOURNAL OF HUMAN GENETICS
INTRAFAMILIAL VARIABILITY OF THE OCULAR PHENOTYPE IN A POLISH FAMILY WITH A MISSENSE MUTATION (A63D) IN THE NORRIE-DISEASE GENE
Ophthalmic genetics
DAN is a secreted glycoprotein related to Xenopus cerberus
MECHANISMS OF DEVELOPMENT
A FUNCTIONAL POLYMORPHISM IN THE MONOAMINE-OXIDASE-A GENE PROMOTER
Human genetics
RELATIONSHIP BETWEEN MONOAMINE-OXIDASE (MAO)-A SPECIFIC ACTIVITY AND PROPORTION OF HUMAN SKIN FIBROBLASTS WHICH EXPRESS THE ENZYME IN CULTURE
Journal of neural transmission. Supplementum
ARE MAO-A DEFICIENCY STATES IN THE GENERAL-POPULATION AND IN PUTATIVEHIGH-RISK POPULATIONS HIGHLY UNCOMMON
Journal of neural transmission. Supplementum
DIFFERENTIAL TRACE AMINE ALTERATIONS IN INDIVIDUALS RECEIVING ACETYLENIC INHIBITORS OF MAO-A (CLORGYLINE) OR MAO-B (SELEGILINE AND PARGYLINE)
Journal of neural transmission. Supplementum
THE CARBOXYL-TERMINAL-90 RESIDUES OF PORCINE SUBMAXILLARY MUCIN ARE SUFFICIENT FOR FORMING DISULFIDE-BONDED DIMERS
The Journal of biological chemistry
EVIDENCE THAT A PEPTIDE CORRESPONDING TO THE RAT MUC2 C-TERMINUS UNDERGOES DISULFIDE-MEDIATED DIMERIZATION
European journal of biochemistry
Molecular dissection of Norrie disease
ACTA ANATOMICA
HISTOPATHOLOGICAL AND IMMUNOHISTOCHEMICAL FINDINGS ASSOCIATED WITH A NULL MUTATION IN THE NORRIE-DISEASE GENE
Ophthalmic genetics
INCREASED STRESS-RESPONSE AND P-PHENYLETHYLAMINE IN MAOB-DEFICIENT MICE
Nature genetics
A PHOTORECEPTOR CELL-SPECIFIC ATP-BINDING TRANSPORTER GENE (ABCR) IS MUTATED IN RECESSIVE STARGARDT MACULAR DYSTROPHY
Nature genetics
IDENTIFICATION OF NOVEL MISSENSE MUTATIONS IN NORRIE-DISEASE GENE ASSOCIATED WITH ONE X-LINKED AND 4 SPORADIC CASES OF FAMILIAL EXUDATIVE VITREORETINOPATHY
Human mutation
NORRIE-DISEASE GENE MUTATION IN A LARGE COSTA-RICAN KINDRED WITH A NOVEL PHENOTYPE INCLUDING VENOUS INSUFFICIENCY
Human mutation
2 NEW MUTATIONS IN EXON-3 OF THE NDP GENE - S73X AND S101F ASSOCIATEDWITH SEVERE AND LESS SEVERE OCULAR PHENOTYPE, RESPECTIVELY
Human mutation
EVIDENCE FOR GENETIC-HETEROGENEITY IN X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY
Genomics
OCULAR FINDINGS IN CUTIS MARMORATA TELANGIECTATICA CONGENITA - BILATERAL EXUDATIVE VITREORETINOPATHY
Retina
RETINOSCHISISLIKE ALTERATIONS IN THE MOUSE EYE CAUSED BY GENE TARGETING OF THE NORRIE DISEASE GENE
Investigative ophthalmology & visual science
MOLECULAR ELUCIDATION OF HEREDITARY EYE DISEASES - PIVOTAL ROLE OF THE CLINICIAN
Ophthalmic research
PERSISTENT FETAL VASCULATURE (PFV) - AN INTEGRATED INTERPRETATION OF SIGNS AND SYMPTOMS ASSOCIATED WITH PERSISTENT HYPERPLASTIC PRIMARY VITREOUS (PHPV) LIV EDWARD-JACKSON-MEMORIAL-LECTURE
American journal of ophthalmology
2 NOVEL MUTATIONS IN THE NORRIE DISEASE GENE ASSOCIATED WITH THE CLASSICAL OCULAR PHENOTYPE
Ophthalmic genetics
OCULAR PHENOTYPES ASSOCIATED WITH 2 MUTATIONS (R121W, C126X) IN THE NORRIE-DISEASE GENE
Ophthalmic genetics
POSITIONAL CLONING OF THE GENE FOR X-LINKED RETINITIS-PIGMENTOSA-3 - HOMOLOGY WITH THE GUANINE-NUCLEOTIDE-EXCHANGE FACTOR RCC1
Human molecular genetics
THE RECOGNITION AND INVESTIGATION OF X-LINKED LEARNING-DISABILITY SYNDROMES
JIDR. Journal of intellectual disability research
LOCALIZATION OF THE GENE (OR GENES) FOR A SYNDROME WITH X-LINKED MENTAL-RETARDATION, ATAXIA, WEAKNESS, HEARING IMPAIRMENT, LOSS OF VISION AND A FATAL COURSE IN EARLY-CHILDHOOD
Human genetics
MUTATIONAL ANALYSIS OF THE HUMAN MAOA GENE
American journal of medical genetics
IDENTIFICATION OF A REGION IMPORTANT FOR HUMAN MONOAMINE-OXIDASE-B SUBSTRATE AND INHIBITOR SELECTIVITY
Life sciences
SPECIFIC GENETIC DEFICIENCIES OF THE A-ISOENZYME AND B-ISOENZYME OF MONOAMINE-OXIDASE ARE CHARACTERIZED BY DISTINCT NEUROCHEMICAL AND CLINICAL PHENOTYPES
The Journal of clinical investigation
LECTIN-HISTOCHEMICAL STUDY OF O-LINKED GLYCOCONJUGATES IN DYSPLASTIC RETINA OF NORRIE DISEASE
Japanese Journal of Ophthalmology
KNOTTED STRUCTURES IN CHEMISTRY, BIOCHEMISTRY, AND MOLECULAR-BIOLOGY
Croatica chemica acta
X-LINKED EXUDATIVE VITREORETINOPATHY CAUSED BY AN ARGININE TO LEUCINESUBSTITUTION (R121L) IN THE NORRIE DISEASE PROTEIN
Clinical genetics
RETINOPATHY OF PREMATURITY IN INFANTS OF BIRTH-WEIGHT GREATER-THAN-2000G AFTER HEMORRHAGIC-SHOCK AT BIRTH
British journal of ophthalmology
MUTATIONS IN THE NORRIE DISEASE GENE
Human mutation
LINKAGE AND CANDIDATE GENE ANALYSIS OF X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY
Genomics
LINKAGE ANALYSIS IN A DUTCH FAMILY WITH X-LINKED RECESSIVE CONGENITALSTATIONARY NIGHT BLINDNESS (XL-CSNB)
Human genetics
SEROTONIN AS A DEVELOPMENTAL SIGNAL
Behavioural brain research
EVIDENCE FOR A GENETIC ASSOCIATION BETWEEN ALLELES OF MONOAMINE-OXIDASE A GENE AND BIPOLAR AFFECTIVE-DISORDER
American journal of medical genetics
PLASMA METADRENALINES - DO THEY PROVIDE USEFUL INFORMATION ABOUT SYMPATHOADRENAL FUNCTION AND CATECHOLAMINE METABOLISM
Clinical science
A FETUS WITH AN X-1 BALANCED RECIPROCAL TRANSLOCATION AND EYE DISEASE
Journal of Medical Genetics
CATECHOLAMINERGIC CELL ATROPHY IN A TRANSGENIC MOUSE ABERRANTLY OVEREXPRESSING MAO-B IN NEURONS
Neurodegeneration
EFFECTS OF GESTATIONAL EXPOSURE TO MONOAMINE-OXIDASE INHIBITORS IN RATS - PRELIMINARY BEHAVIORAL AND NEUROCHEMICAL STUDIES
Neuropsychopharmacology
HEREDITARY VARIATIONS IN MONOAMINE-OXIDASE AS A RISK FACTOR FOR PARKINSONS-DISEASE
Movement disorders
MONOAMINE OXIDASE-A - PHARMACODYNAMICS IN HUMANS OF MOCLOBEMIDE, A REVERSIBLE AND SELECTIVE INHIBITOR
British journal of clinical pharmacology
XLMR GENES - UPDATE 1994
American journal of medical genetics
A NEW LOOK AT THE PROMOTER OF THE HUMAN MONOAMINE-OXIDASE-A GENE - MAPPING TRANSCRIPTION INITIATION SITES AND CAPACITY TO DRIVE LUCIFERASE EXPRESSION
Journal of neurochemistry
CHARACTERIZATION OF A MUTATION WITHIN THE NDP GENE IN A FAMILY WITH AMANIFESTING FEMALE CARRIER
Human molecular genetics
REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN X-CHROMOSOME MAPPING 1993 - HELD ON MAY 9-12, 1993 ST-LOUIS, MISSOURI, USA
Cytogenetics and cell genetics
ABNORMAL-BEHAVIOR ASSOCIATED WITH A POINT MUTATION IN THE STRUCTURAL GENE FOR MONOAMINE OXIDASE-A
Science
THE MODULAR ARCHITECTURE OF A NEW FAMILY OF GROWTH-REGULATORS RELATEDTO CONNECTIVE-TISSUE GROWTH-FACTOR
FEBS letters
X-LINKED BORDERLINE MENTAL-RETARDATION WITH PROMINENT BEHAVIORAL DISTURBANCE - PHENOTYPE, GENETIC LOCALIZATION, AND EVIDENCE FOR DISTURBED MONOAMINE METABOLISM
American journal of human genetics