Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs-Reference-Cited by-同舟云学术

Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Published:2001-01 Issue:1 Volume:68 Page:64-80
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Dabora Sandra L.,Jozwiak Sergiusz,Franz David Neal,Roberts Penelope S.,Nieto Andres,Chung Joon,Choy Yew-Sing,Reeve Mary Pat,Thiele Elizabeth,Egelhoff John C.,Kasprzyk-Obara Jolanta,Domanska-Pakiela Dorota,Kwiatkowski David J.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference45 articles.

1. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group;Antonarakis;Hum Mutat,1998

2. Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients;Au;Am J Hum Genet,1998

3. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis;Beauchamp;Hum Mutat,1998

4. Molecular genetic advances in tuberous sclerosis;Cheadle;Hum Genet,2000

5. Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2;Choy;Ann Hum Genet,1999

Cited by 830 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial;Pediatric Neurology;2024-10

2. Uterine lymphangioleiomyomatosis in a premenopausal woman with tuberous sclerosis: A case report;Case Reports in Women's Health;2024-10

3. A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC);Anais Brasileiros de Dermatologia;2024-09

4. Premature cognitive decline in a mouse model of tuberous sclerosis;Aging Cell;2024-08-27

5. Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome;Cureus;2024-08-26