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Literature DB >> 5713638

Diagnostic and genetical aspects of tuberous sclerosis.

N C Nevin, W G Pearce.

Abstract

Entities: Disease

Mesh：

Year: 1968 PMID： 5713638 PMCID： PMC1468678 DOI： 10.1136/jmg.5.4.273

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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13 in total

1. Internal manifestations of tuberous sclerosis.

Authors: W B REED; W R NICKEL; G CAMPION
Journal: Arch Dermatol Date: 1963-06

2. Congenital neurocutaneous syndromes in childhood.

Authors: D H CHAO
Journal: J Pediatr Date: 1959-10 Impact factor: 4.406

3. Achondroplasia: an account of the condition in Northern Ireland.

Authors: A C STEVENSON
Journal: Am J Hum Genet Date: 1957-03 Impact factor: 11.025

4. Marfan's syndrome in Northern Ireland; an account of thirteen families.

Authors: M A LYNAS
Journal: Ann Hum Genet Date: 1958-07 Impact factor: 1.670

5. Pulmonary tuberous sclerosis and its relationship to other forms of the disease.

Authors: J DAWSON
Journal: Q J Med Date: 1954-04

6. [Tuberous cerebral sclerosis of Bourneville].

Authors: J FRANCOIS; J P DEWEER
Journal: Ophthalmologica Date: 1952-12 Impact factor: 3.250

7. Tuberous sclerosis: reappraisal of a clinical entity.

Authors: J C Lagos; M R Gomez
Journal: Mayo Clin Proc Date: 1967-01 Impact factor: 7.616

8. Infantile spasms and skin anomalies.

Authors: J U Crichton
Journal: Dev Med Child Neurol Date: 1966-06 Impact factor: 5.449

9. DEPIGMENTED NEVI: THE EARLIEST SIGN OF TUBEROUS SCLEROSIS.

Authors: A P GOLD; J M FREEMAN
Journal: Pediatrics Date: 1965-06 Impact factor: 7.124

10. Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases.

Authors: C E BLANK
Journal: Ann Hum Genet Date: 1960-05 Impact factor: 1.670

19 in total

1. Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

Authors: H Northrup; D J Kwiatkowski; E S Roach; W B Dobyns; R A Lewis; G E Herman; E Rodriguez; S P Daiger; S H Blanton
Journal: Am J Hum Genet Date: 1992-10 Impact factor: 11.025

2. Serum and tissue proteins in tuberous sclerosis. I. Serum and red-cell polymorphic systems.

Authors: A T Rundle; J Atkin; B Sudell
Journal: Humangenetik Date: 1975

3. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.

Authors: Hope Northrup; Darcy A Krueger
Journal: Pediatr Neurol Date: 2013-10 Impact factor: 3.372

4. Genetic aspects of tuberous sclerosis in the west of Scotland.

Authors: J R Sampson; S J Scahill; J B Stephenson; L Mann; J M Connor
Journal: J Med Genet Date: 1989-01 Impact factor: 6.318

5. Primitive neuroectodermal tumor in a child with tuberous sclerosis.

Authors: B W Hindman; H K Gill; C W Zuppan
Journal: Skeletal Radiol Date: 1997-03 Impact factor: 2.199

6. Pulmonary manifestations of tuberous sclerosis in first degree relatives.

Authors: J M Slingerland; R F Grossman; D Chamberlain; C E Tremblay
Journal: Thorax Date: 1989-03 Impact factor: 9.139

7. Evidence for population variation in TSC1 and TSC2 gene expression.

Authors: Garilyn M Jentarra; Stephen G Rice; Shannon Olfers; David Saffen; Vinodh Narayanan
Journal: BMC Med Genet Date: 2011-02-23 Impact factor: 2.103

8. Palmar dermatoglyphs in tuberous sclerosis.

Authors: T J David
Journal: J Med Genet Date: 1972-12 Impact factor: 6.318

9. Tuberous sclerosis: a genetic study.

Authors: S Bundey; K Evans
Journal: J Neurol Neurosurg Psychiatry Date: 1969-12 Impact factor: 10.154

10. Risk estimation in autosomal dominant disorders with reduced penetrance.

Authors: A E Emery
Journal: J Med Genet Date: 1986-08 Impact factor: 6.318