Literature DB >> 728588

A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22).

K Taysi, M Fishman, G S Sekhon.   

Abstract

Entities:  

Mesh：

Year:  1978        PMID： 728588

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


× No keyword cloud information.
  7 in total

1.  Interstitial deletion and ring chromosome derived from 16q.

Authors:  C M Krauss; D Caldwell; L Atkins
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

2.  Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis.

Authors:  K A Rack; P C Harris; A B MacCarthy; R Boone; H Raynham; M McKinley; M Fitchett; C M Towe; P Rudd; J A Armour
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

3.  Interstitial deletion for a region in the long arm of chromosome 16.

Authors:  C C Lin; R B Lowry; F F Snyder
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

4.  Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region.

Authors:  F F Elder; J W Ferguson; L H Lockhart
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Authors:  D F Callen; H Eyre; S Lane; Y Shen; I Hansmann; N Spinner; E Zackai; D McDonald-McGinn; S Schuffenhauer; J Wauters
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

6.  Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.

Authors:  A Cooke; J Tolmie; W Darlington; E Boyd; R Thomson; M A Ferguson-Smith
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

7.  Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.

Authors:  Gabrielle Henslee; Christopher L Williams; Pengfei Liu; Alison A Bertuch
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-02-19
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.