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Systemic lupus erythematosus with polyglandular autoimmune syndrome type II: report of an unusual case
LUPUS
A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II
PHARMACOGENETICS
A new beta-1,2-N-acetylglucosaminyltransferase that may play a role in thebiosynthesis of mammalian O-mannosyl glycans
GLYCOBIOLOGY
32-year old patient presenting with autoimmune polyglandular syndrome
EUROPEAN JOURNAL OF MEDICAL RESEARCH
Gilbert syndrome associated with beta-thalassemia
PEDIATRIC HEMATOLOGY AND ONCOLOGY
Temporal bone imaging findings in Waardenburg's syndrome
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation
BRITISH JOURNAL OF OPHTHALMOLOGY
Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome
AMERICAN JOURNAL OF GASTROENTEROLOGY
Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
Identification of novel USH2A mutations: implications for the structure ofUSH2A protein
EUROPEAN JOURNAL OF HUMAN GENETICS
Variations of the bilirubin uridine-diphosyphoglucuronosyl transferase 1A1gene in healthy Taiwanese
PHARMACOGENETICS
Recent advances in bilirubin metabolism research: the molecular mechanism of hepatocyte bilirubin transport and its clinical relevance
JOURNAL OF GASTROENTEROLOGY
The joys of HexNAc. The synthesis and function of N-and O-glycan branches
GLYCOCONJUGATE JOURNAL
Effect of bilirubin UDP glucuronosyltransferase 1 gene TATA box genotypes on serum bilirubin concentrations in chronic liver injuries
HEPATOLOGY
The ultrastructural and histophotometric study of elastic and collagen fibers in type II Ehlers-Danlos Syndrome and subclinical forms
ULTRASTRUCTURAL PATHOLOGY
Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
AMERICAN JOURNAL OF MEDICAL GENETICS
Compound heterozygosity for a disease-causing G1489D and disease-modifyingG530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?
AMERICAN JOURNAL OF MEDICAL GENETICS
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene
PEDIATRICS
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
JOURNAL OF MEDICAL GENETICS
The Smith-Lemli-Opitz syndrome
JOURNAL OF MEDICAL GENETICS
Protein glycosylation and diseases: Blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring
CLINICAL CHEMISTRY
Cytomegalovirus infection in infants with autoimmune lymphoproliferative syndrome (ALPS)
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity:A pharmacogenetic analysis
CANCER RESEARCH
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2
EUROPEAN JOURNAL OF HUMAN GENETICS
Autoantibodies to adrenal cytochrome P450 antigens in isolated Addison's disease and autoimmune polyendocrine syndrome type II
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
Primary biliary cirrhosis and type II autoimmune polyglandular syndrome
CANADIAN JOURNAL OF GASTROENTEROLOGY
A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene
EUROPEAN JOURNAL OF PEDIATRICS
Mohr syndrome in two sisters: Prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both
PRENATAL DIAGNOSIS
Intermittent jaundice in patients with acute leukaemia: A common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians
JOURNAL OF INHERITED METABOLIC DISEASE
Carbohydrate-deficient glycoprotein syndrome type 2
JOURNAL OF INHERITED METABOLIC DISEASE
Homozygosity mapping to the USH2A locus in two isolated populations
JOURNAL OF MEDICAL GENETICS
ANALYSIS OF BILIRUBIN URIDINE 5'-DIPHOSPHATE IN (UDP)-GLUCURONOSYLTRANSFERASE GENE-MUTATIONS IN 7 PATIENTS WITH CRIGLER-NAJJAR-SYNDROME TYPE-II
JOURNAL OF HUMAN GENETICS
SUMMARY OF OCULAR GENETIC-DISORDERS AND INHERITED SYSTEMIC CONDITIONSWITH EYE FINDINGS
Ophthalmic genetics
CONTRIBUTION OF 2 MISSENSE MUTATIONS (G71R AND Y486D) OF THE BILIRUBIN UDP GLYCOSYLTRANSFERASE (UGT1A1) GENE TO PHENOTYPES OF GILBERTS-SYNDROME AND CRIGLER-NAJJAR-SYNDROME TYPE-II
Biochimica et biophysica acta. Molecular basis of disease
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib
MOLECULAR AND CELLULAR PROBES
NOVEL MUTATION IN THE FGFR2 GENE AT THE SAME CODON AS THE CROUZON-SYNDROME MUTATIONS IN A SEVERE PFEIFFER-SYNDROME TYPE-2 CASE
American journal of medical genetics
RSH-(SMITH-LEMLI-OPITZ)-SYNDROME - SEVERE PHENOTYPE WITH ECTRODACTYLY
American journal of medical genetics
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-V - DEFICIENCY OF DOLICHYL-P-GLC-MAN(9)GLCNAC(2)-PP-DOLICHYL GLUCOSYLTRANSFERASE
Proceedings of the National Academy of Sciences of the United Statesof America
SMITH-LEMLI-OPITZ-SYNDROME - A VARIABLE CLINICAL AND BIOCHEMICAL PHENOTYPE
Journal of Medical Genetics
SINGLE-GENE INFLUENCES ON RADIOLOGICALLY-DETECTABLE MALFORMATIONS OF THE INNER-EAR
Journal of communication disorders
A NOVEL CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME CHARACTERIZED BYA DEFICIENCY IN GLUCOSYLATION OF THE DOLICHOL-LINKED OLIGOSACCHARIDE
The Journal of clinical investigation
MAP REFINEMENT OF THE USHER-SYNDROME TYPE 1B GENE, MYO7A, RELATIVE TO11Q13.5 MICROSATELLITE MARKERS
Clinical genetics
SMITH-LEMLI-OPITZ-SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE
Clinical dysmorphology
PHENOTYPIC DIVERSITY IN THE SMITH-LEMLI-OPITZ SYNDROME
Clinical dysmorphology
STRUCTURE AND FUNCTION OF URIDINE-DIPHOSPHATE GLUCURONOSYLTRANSFERASES
Clinical and experimental pharmacology and physiology
STRUCTURE AND FUNCTION OF THE GENES ENCODING N-ACETYLGLUCOSAMINYLTRANSFERASES WHICH INITIATE N-GLYCAN ANTENNAE
Biochemical Society transactions
ATYPICAL SKELETAL CHANGES IN OTOPALATODIGITAL SYNDROME TYPE-II - PHENOTYPIC OVERLAP AMONG OTOPALATODIGITAL SYNDROME TYPE-II, BOOMERANG DYSPLASIA, ATELOSTEOGENESIS TYPE-I AND TYPE-III, AND LETHAL MALE PHENOTYPEOF MELNICK-NEEDLES-SYNDROME
American journal of medical genetics
ARE MELNICK-NEEDLES-SYNDROME AND OTOPALATODIGITAL SYNDROME TYPE-II ALLELIC - OBSERVATIONS IN A 4-GENERATION KINDRED
American journal of medical genetics
CARDIOVASCULAR MALFORMATIONS IN SMITH-LEMLI-OPITZ SYNDROME
American journal of medical genetics
EVALUATION OF THE HUMAN GENE ENCODING RECOVERIN IN PATIENTS WITH RETINITIS-PIGMENTOSA OR AN ALLIED DISEASE
Investigative ophthalmology & visual science
CHRONIC IMMUNE THROMBOCYTOPENIC PURPURA A ND INSULIN-DEPENDENT DIABETES-MELLITUS - COINCIDENCE OR SIGN OF AUTOIMMUNE POLYGLANDULAR SYNDROMETYPE-II
Monatsschrift fur Kinderheilkunde
PENDRED SYNDROME - EVIDENCE FOR GENETIC HOMOGENEITY AND FURTHER REFINEMENT OF LINKAGE
Journal of Medical Genetics
KERNICTERUS IN AN ADULT WHO IS HETEROZYGOUS FOR CRIGLER-NAJJAR-SYNDROME AND HOMOZYGOUS FOR GILBERT-TYPE GENETIC-DEFECT
Gastroenterology
GENETIC-DEFECTS OF THE UDP-GLUCURONOSYLTRANSFERASE-1 (UGT1) GENE THATCAUSE FAMILIAL NONHEMOLYTIC UNCONJUGATED HYPERBILIRUBINEMIAS
Clinica chimica acta
USHER-SYNDROME IN THE CITY OF BIRMINGHAM - PREVALENCE AND CLINICAL CLASSIFICATION
British journal of ophthalmology
USHERS-SYNDROME TYPE IC - CLINICAL-STUDIES AND FINE-MAPPING THE DISEASE LOCUS
The Annals of otology, rhinology & laryngology
USHER-SYNDROME IN THE SAMARITANS - STRENGTHS AND LIMITATIONS OF USINGINBRED ISOLATED POPULATIONS TO IDENTIFY GENES CAUSING RECESSIVE DISORDERS
American journal of physical anthropology
GENETIC-HETEROGENEITY OF USHER SYNDROME TYPE-II IN A DUTCH POPULATION
Journal of Medical Genetics
NEURORADIOLOGY AND CLINICAL ASPECTS OF USHER-SYNDROME
Clinical genetics
DIAGNOSTIC-VALUE OF WESTERN BLOTTING IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
Clinica chimica acta
STABLE AND PROGRESSIVE HEARING-LOSS IN TYPE 2A USHERS SYNDROME
The Annals of otology, rhinology & laryngology
CONSTRUCTION AND CHARACTERIZATION OF A NOTI LINKING LIBRARY FROM HUMAN-CHROMOSOME REGION 1Q25-QTER
Genomics
MOLECULAR-CLONING OF A HUMAN PROTEIN THAT BINDS TO THE RETINOBLASTOMAPROTEIN AND CHROMOSOMAL MAPPING
Genomics
EXPRESSION AND CHROMOSOMAL LOCALIZATION OF CDNA CLONES FROM AN ENRICHED HUMAN RETINAL-PIGMENT EPITHELIAL (RPE) CELL-LINE LIBRARY - IDENTIFICATION OF 2 RPE-SPECIFIC GENES
Cytogenetics and cell genetics
MYOPATHOLOGICAL FINDINGS IN INTERSTITIAL MYOSITIS IN TYPE-II POLYENDOCRINE AUTOIMMUNE SYNDROME (SCHMIDTS-SYNDROME)
Neurological research
UNUSUAL CASE OF SMITH-LEMLI-OPITZ SYNDROME TYPE-II
American journal of medical genetics
SEVERE SMITH-LEMLI-OPITZ SYNDROME WITH PROLONGED SURVIVAL AND LIPID ABNORMALITIES
American journal of medical genetics
NUMERICAL SYNDROMOLOGY - A MATHEMATICAL APPROACH TO THE NOSOLOGY OF COMPLEX PHENOTYPES
American journal of medical genetics
WAARDENBURG SYNDROME TYPE-II - PHENOTYPIC FINDINGS AND DIAGNOSTIC-CRITERIA
American journal of medical genetics
CORRELATION OF PHENOTYPE WITH GENOTYPE IN INHERITED RETINAL DEGENERATION
Behavioral and brain sciences
GENETIC FEATURES OF RETINITIS-PIGMENTOSA IN TURKEY
Documenta ophthalmologica
CELL CYCLE-DEPENDENT EXPRESSION OF NEK2, A NOVEL HUMAN PROTEIN-KINASERELATED TO THE NIMA MITOTIC REGULATOR OF ASPERGILLUS-NIDULANS
Cell growth & differentiation
ASSIGNMENT OF A GENE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA (RP12) TO CHROMOSOME 1Q31-Q32.1 IN AN INBRED AND GENETICALLY HETEROGENEOUS DISEASE POPULATION
Genomics
GENETIC-MAPPING OF THE GENE FOR USHER SYNDROME - LINKAGE ANALYSIS IN A LARGE SAMARITAN KINDRED
Genomics
CLINICAL-DIAGNOSIS OF THE USHER SYNDROMES
American journal of medical genetics
PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME, TYPE-II
American journal of medical genetics
RECENT ADVANCES IN THE GENE MAP OF INHERITED EYE DISORDERS - PRIMARY HEREDITARY-DISEASES OF THE RETINA, CHOROID, AND VITREOUS
Journal of Medical Genetics
OTOPALATODIGITAL SYNDROME TYPE-II IN 2 UNRELATED BOYS
Clinical genetics
THE GENE FOR HUMAN PHOSDUCIN (PDC), A SOLUBLE-PROTEIN THAT BINDS G-PROTEIN BETA-GAMMA DIMERS, MAPS TO 1Q25-Q31.1
Genomics
TREATMENT OF POLYGLANDULAR AUTOIMMUNE SYNDROME WITH CYCLOSPORINE-A
Acta medica Hungarica