Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria

Case 39-2000

2000 • 3,891 citations

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1993 • 1,617 citations

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

1997 • 1,613 citations

Focal dysplasia of the cerebral cortex in epilepsy

1971 • 1,037 citations

Focal neuronal migration disorders and intractable partial epilepsy: A study of 30 patients

1991 • 455 citations

RENAL LESION GROWTH IN CHILDREN WITH TUBEROUS SCLEROSIS COMPLEX

1998 • 309 citations

Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis

1998 • 307 citations

Multiple Facial Angiofibromas and Collagenomas in Patients With Multiple Endocrine Neoplasia Type 1

1997 • 303 citations

First-Meiotic-Division Nondisjunction in Human Oocytes

1997 • 233 citations

Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

1992 • 224 citations

MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment.

1995 • 198 citations

Early Diagnosis of Subependymal Giant Cell Astrocytoma in Patients With Tuberous Sclerosis

1998 • 100 citations

Cutaneous Tumors in Patients with Multiple Endocrine Neoplasia Type 1 Show Allelic Deletion of the MEN1 Gene

1998 • 96 citations

Prevalence of hypopigmented macules in a healthy population

1996 • 88 citations

Ultrastructure of tuberous sclerosis: Cortical tuber and subependymal tumor

1981 • 78 citations

Variability of expression in tuberous sclerosis.

1993 • 76 citations

Fine structure of cortical tubers in tuberous sclerosis: A Golgi study

1984 • 74 citations

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis

1997 • 61 citations

Incidence of hepatic hamartomas in tuberous sclerosis.

1992 • 58 citations

Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis: Forme fruste of tuberous sclerosis?

1993 • 56 citations

Neuropathologic Study of Resected Cerebral Tissue from Patients with Infantile Spasms

1993 • 55 citations

Enamel pitting: A common symptom of tuberous sclerosis

1991 • 45 citations

Pitted enamel hypoplasia in tuberous sclerosis patients and first‐degree relatives

1987 • 27 citations

Pitted enamel hypoplasia in tuberous sclerosis

1992 • 26 citations

Liver hamartomas in tuberous sclerosis

1993 • 19 citations

Splenic involvement in tuberous sclerosis

1981 • 14 citations

Case 18-1994

1994 • 7 citations

LOSS OF HETEROZYGOSITY IN SPORADIC CORTICAL. DYSPLASIA FOR DNA MARKERS IN THE REGION OF THE TUBEROUS SCLEROSIS (TSC1) GENE ON CHROMOSOME 9q34

1995 • 1 citations