Literature DB >> 2319586

Angelman's syndrome, abnormality of 15q11-13, and imprinting.

J G Hall.   

Abstract

Entities:  

Mesh：

Year:  1990        PMID： 2319586      PMCID： PMC1016940          DOI： 10.1136/jmg.27.2.141

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


× No keyword cloud information.
  12 in total

1.  Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

Authors:  C E Schwartz; J P Johnson; B Holycross; T M Mandeville; T S Sears; E A Graul; J C Carey; R J Schroer; M C Phelan; J Szollar
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

Review 2.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

3.  The association of Angelman's syndrome with deletions within 15q11-13.

Authors:  M Pembrey; S J Fennell; J van den Berghe; M Fitchett; D Summers; L Butler; C Clarke; M Griffiths; E Thompson; M Super
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

4.  Angelman's syndrome and 15q11-13 deletions.

Authors:  J P Fryns; A Kleczkowska; P Decock; H Van den Berghe
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

5.  Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother.

Authors:  C A Williams; J E Hendrickson; E S Cantú; T A Donlon
Journal:  Am J Med Genet       Date:  1989-03

6.  Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.

Authors:  R D Nicholls; J H Knoll; K Glatt; J H Hersh; T D Brewster; J M Graham; D Wurster-Hill; R Wharton; S A Latt
Journal:  Am J Med Genet       Date:  1989-05

7.  Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Authors:  J H Knoll; R D Nicholls; R E Magenis; J M Graham; M Lalande; S A Latt
Journal:  Am J Med Genet       Date:  1989-02

8.  Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

Authors:  F Greenberg; F F Elder; P Haffner; H Northrup; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

9.  Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.

Authors:  U Tantravahi; R D Nicholls; H Stroh; S Ringer; R L Neve; L Kaplan; R Wharton; D Wurster-Hill; J M Graham; E S Cantú
Journal:  Am J Med Genet       Date:  1989-05

10.  Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea.

Authors:  W Reik
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318
View more
  1 in total

1.  Genomic imprinting for pathologists.

Authors:  C L Berry
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1991
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.