Per ulteriori informazioni selezionare i riferimenti di interesse.
Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
Pediatric dermatology: Cutaneous markers of malformations and selected syndromes - What do you see, when do you see it, and how do you find it?
CURRENT PROBLEMS IN DERMATOLOGY-US
Concurrent angiomyolipoma and renal cell neoplasia: A study of 36 cases
MODERN PATHOLOGY
Leiomyomatosis-like lymphangioleiomyomatosis of the colon in a female withtuberous sclerosis
MODERN PATHOLOGY
Surgical treatment of West syndrome
BRAIN & DEVELOPMENT
Cells derived from tuberous sclerosis show a prolonged S phase of the cellcycle and increased apoptosis
ARCHIVES OF DERMATOLOGICAL RESEARCH
Pulmonary lymphangioleiomyomatosis. Morphological and immunohistochemical findings
PATHOLOGE
Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene
JOURNAL OF BIOCHEMICAL AND BIOPHYSICAL METHODS
Meningiomas in lymphangioleiomyomatosis
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
Abnormal development and catastrophic epilepsies: The clinical picture andrelation to neuroimaging
BRAIN PLASTICITY AND EPILEPSY
Lymphangioleiomyomatosis - A series of three case reports illustrating thelink with high oestrogen states
SCOTTISH MEDICAL JOURNAL
CT of cystic diseases of the lung
RADIOLOGIC CLINICS OF NORTH AMERICA
Untitled
JOURNAL OF PEDIATRIC SURGERY
The genetics of autism
ACTA PSYCHIATRICA SCANDINAVICA
Behavioral. aspects of epilepsy in children with mental retardation
MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography
HUMAN MUTATION
Molecular genetics in pediatric dermatology
CURRENT OPINION IN PEDIATRICS
Frequency of facial angiofibromas in Japanese patients with multiple endocrine neoplasia type 1
ENDOCRINE JOURNAL
Relationship between EEG and positron emission tomography abnormalities inclinical epilepsy
JOURNAL OF CLINICAL NEUROPHYSIOLOGY
Cortical malformations: a frequent cause of epilepsy in children
EUROPEAN JOURNAL OF PEDIATRICS
Update on familial cancer syndromes and the skin
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
DAnalysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: Report of 10 mutations
AMERICAN JOURNAL OF MEDICAL GENETICS
Clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres- A novel member of the perivascular epithelioid clear cell family of tumors with a predilection for children and young adults
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
Estimating prevalence in single-gene kidney diseases progressing to renal failure
KIDNEY INTERNATIONAL
Multimodality imaging for improved detection of epileptogenic foci in tuberous sclerosis complex
NEUROLOGY
Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination
JOURNAL OF MEDICAL GENETICS
Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis
CHEST
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
JOURNAL OF HUMAN GENETICS
The localizing value of ictal SPECT in children with tuberous sclerosis complex and refractory partial epilepsy
EPILEPTIC DISORDERS
Renal cell carcinoma in children with diffuse cystic hyperplasia of the kidneys
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test PTT identifies frequent splicing defects
HUMAN MUTATION
Analysis of both TCS1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
HUMAN MUTATION
The spectrum of renal cysts in adulthood - discussion of eight cases
NEPHROLOGY DIALYSIS TRANSPLANTATION
The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas
MODERN PATHOLOGY
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood
EUROPEAN JOURNAL OF PEDIATRICS
Genetic testing for patients with renal disease: Procedures, pitfalls, andethical considerations
SEMINARS IN NEPHROLOGY
New developments in the neurobiology of the tuberous sclerosis complex
NEUROLOGY
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosiscomplex patients: no evidence for genotype-phenotype correlation
JOURNAL OF MEDICAL GENETICS
EXON SCANNING OF THE ENTIRE TSC2 GENE FOR GERMLINE MUTATIONS IN 40 UNRELATED PATIENTS WITH TUBEROUS SCLEROSIS
Human mutation
ANGIOMYOLIPOMA OF KIDNEY
Seminars in diagnostic pathology
WEST-SYNDROME - ETIOLOGIC AND PROGNOSTIC ASPECTS
Brain & development
AUTISM AND TUBEROUS SCLEROSIS COMPLEX - PREVALENCE AND CLINICAL-FEATURES
Journal of autism and developmental disorders
AUTISM IN TUBEROUS SCLEROSIS COMPLEX
Journal of autism and developmental disorders
CARCINOMA-LIKE MONOTYPIC EPITHELIOID ANGIOMYOLIPOMA IN PATIENTS WITHOUT EVIDENCE OF TUBEROUS SCLEROSIS - A CLINICOPATHOLOGICAL AND GENETIC-STUDY
The American journal of surgical pathology
Lymphangioleiomyomatosis - A review
CHEST
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance
ANNALS OF HUMAN GENETICS
EVIDENCE THAT LYMPHANGIOMYOMATOSIS IS CAUSED BY TSC2 MUTATIONS - CHROMOSOME 16P13 LOSS OF HETEROZYGOSITY IN ANGIOMYOLIPOMAS AND LYMPH-NODESFROM WOMEN WITH LYMPHANGIOMYOMATOSIS
American journal of human genetics
MUTATIONS AND POLYMORPHISMS IN THE TUBEROUS SCLEROSIS COMPLEX GENE ONCHROMOSOME-16
Human mutation
ON THE SURGICAL-TREATMENT OF REFRACTORY EPILEPSY IN TUBEROUS SCLEROSIS COMPLEX
Pediatric neurosurgery
MUTATIONS IN THE TSC2 GENE - ANALYSIS OF THE COMPLETE CODING SEQUENCEUSING THE PROTEIN TRUNCATION TEST (PTT)
Human molecular genetics
ALTERATIONS IN THE RAP1 SIGNALING PATHWAY ARE COMMON IN HUMAN GLIOMAS
Oncogene
RENAL CYSTIC DISEASES
European radiology
A LARGE TSC2 AND PKD1 GENE DELETION IS ASSOCIATED WITH RENAL AND EXTRARENAL SIGNS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Nephrology, dialysis, transplantation
TUBEROUS SCLEROSIS COMPLEX - THE ROLE OF NEURORADIOLOGY
Neuropediatrics
CURRENT CONCEPTS AND CONTROVERSIES IN IMAGING OF RENAL CYSTIC DISEASES
Urologic clinics of North America
ACUTE ABDOMEN WITH PALPABLE RESISTANCE IN THE HYPOGASTRIUM AND KIDNEYPAIN
Radiologe
MOLECULAR ANALYSIS OF THE HUMAN VITAMIN-D-BINDING-PROTEIN (GROUP-SPECIFIC COMPONENT, GC) IN TUBEROUS-SCLEROSIS-COMPLEX (TSC)
Journal of Medical Genetics
NEUROLOGICAL MANIFESTATIONS OF TUBEROUS SCLEROSIS COMPLEX
Child's nervous system
LYMPHANGIOLEIOMYOMATOSIS OF THE UTERUS SIMULATING HIGH-STAGE ENDOMETRIAL STROMAL SARCOMA
Gynecologic oncology
INHERITED CYSTIC DISEASES OF THE KIDNEY
The Radiologic clinics of North America
REPORT OF A CRITICAL RECOMBINATION FURTHER NARROWING THE TSC1 REGION
Journal of Medical Genetics
TUBEROUS SCLEROSIS COMPLEX WITH END-STAGE RENAL-FAILURE
Nephrology, dialysis, transplantation
ONCOGENESIS IN TUBEROUS SCLEROSIS COMPLEX
The Cancer journal
HISTORY OF THE TUBEROUS SCLEROSIS COMPLEX
Brain & development
RENAL INVOLVEMENT IN TUBEROUS SCLEROSIS COMPLEX - A RETROSPECTIVE SURVEY
Pediatric nephrology
RESULTS OF THE COLLABORATIVE STUDY ON TUB EROUS SCLEROSIS COMPLEX (TSC) IN ITALY
Rivista italiana di pediatria
GASTROINTESTINAL INVOLVEMENT IN TUBEROUS SCLEROSIS - 2 CASE-REPORTS
Journal of clinical gastroenterology