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Literature DB >> 3052049

Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

J G Hall¹.

Abstract

Mesh：

Year: 1988 PMID： 3052049 PMCID： PMC1715487

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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59 in total

1. The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy.

Authors: J H Edwards
Journal: J Med Genet Date: 1986-12 Impact factor: 6.318

2. Genetics of tuberous sclerosis.

Authors: J G Hall; P H Byers
Journal: Lancet Date: 1987-03-28 Impact factor: 79.321

3. Non-penetrance in tuberous sclerosis.

Authors: J M Connor; J B Stephenson; M D Hadley
Journal: Lancet Date: 1986-11-29 Impact factor: 79.321

4. Diploid/triploid mixoploidy and hypomelanosis of Ito.

Authors: D Donnai; C McKeown; T Andrews; A P Read
Journal: Lancet Date: 1986-06-21 Impact factor: 79.321

5. Association of red cell spherocytosis with deletion of the short arm of chromosome 8.

Authors: R R Chilcote; M M Le Beau; C Dampier; E Pergament; Y Verlinsky; N Mohandas; H Frischer; J D Rowley
Journal: Blood Date: 1987-01 Impact factor: 22.113

6. Gene action in the X-chromosome of the mouse (Mus musculus L.).

Authors: M F LYON
Journal: Nature Date: 1961-04-22 Impact factor: 49.962

7. Germinal mosaicism in Apert syndrome.

Authors: J E Allanson
Journal: Clin Genet Date: 1986-05 Impact factor: 4.438

8. Homozygotes for Huntington's disease.

Authors: N S Wexler; A B Young; R E Tanzi; H Travers; S Starosta-Rubinstein; J B Penney; S R Snodgrass; I Shoulson; F Gomez; M A Ramos Arroyo
Journal: Nature Date: 1987 Mar 12-18 Impact factor: 49.962

9. Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.

Authors: C Turleau; F Taillard; M Doussau de Bazignan; N Delépine; J C Desbois; J de Grouchy
Journal: Hum Genet Date: 1986-10 Impact factor: 4.132

10. The McCune-Albright syndrome: a lethal gene surviving by mosaicism.

Authors: R Happle
Journal: Clin Genet Date: 1986-04 Impact factor: 4.438

104 in total

1. Monozygotic twins discordant for Aicardi syndrome.

Authors: T Costa; W Greer; G Rysiecki; J R Buncic; P N Ray
Journal: J Med Genet Date: 1997-08 Impact factor: 6.318

Review 2. Nailing down a link between tuberin and renal cysts.

Authors: David M Hockenbery
Journal: Am J Pathol Date: 2003-02 Impact factor: 4.307

3. A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.

Authors: J Bonaventure; L Cohen-Solal; C Lasselin; P Maroteaux
Journal: Hum Genet Date: 1992-08 Impact factor: 4.132

4. Aplasia cutis congenita reminiscent of the lines of Blaschko.

Authors: R C Hennekam
Journal: Hum Genet Date: 1992-12 Impact factor: 4.132

5. Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

Authors: S Kontusaari; G Tromp; H Kuivaniemi; C Stolle; F M Pope; D J Prockop
Journal: Am J Hum Genet Date: 1992-09 Impact factor: 11.025

6. The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype.

Authors: A Mathur; L Stekol; D Schatz; N K MacLaren; M L Scott; B Lippe
Journal: Am J Hum Genet Date: 1991-04 Impact factor: 11.025

7. Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

Authors: E W Murray; A R Giles; D Lillicrap
Journal: Am J Hum Genet Date: 1992-01 Impact factor: 11.025