Literature DB >> 12205123

Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies.

Z Hélias-Rodzewicz, E Bocian, P Stankiewicz, E Obersztyn, E Kostyk, K Jakubów-Durska, A Kutkowska-Kaźmierczak, T Mazurczak.   

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Year:  2002        PMID： 12205123      PMCID： PMC1735238          DOI： 10.1136/jmg.39.9.e53

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


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  5 in total

1.  Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.

Authors:  Ye Wu; Taoyun Ji; Jingmin Wang; Jing Xiao; Huifang Wang; Jie Li; Zhijie Gao; Yanling Yang; Bin Cai; Liwen Wang; Zhongshu Zhou; Lili Tian; Xiaozhu Wang; Nan Zhong; Jiong Qin; Xiru Wu; Yuwu Jiang
Journal:  BMC Med Genet       Date:  2010-05-11       Impact factor: 2.103

2.  Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.

Authors:  Muhammad M Rahman; Km Furkan Uddin; Nesreen K Al Jezawi; Noushad Karuvantevida; Hosneara Akter; Nushrat J Dity; Md Ashiquir Rahaman; Maksuda Begum; Md Atikur Rahaman; Md Abdul Baqui; Zeena Salwa; Serajul Islam; Marc Woodbury-Smith; Mohammed Basiruzzaman; Mohammed Uddin
Journal:  Mol Genet Genomic Med       Date:  2019-09-01       Impact factor: 2.183

3.  Cryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization.

Authors:  Jasen L Wise; Richard J Crout; Daniel W McNeil; Robert J Weyant; Mary L Marazita; Sharon L Wenger
Journal:  PLoS One       Date:  2009-06-10       Impact factor: 3.240

4.  A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation.

Authors:  Ben S Pickard; Edward J Hollox; M Pat Malloy; David J Porteous; Douglas H R Blackwood; John A L Armour; Walter J Muir
Journal:  BMC Med Genet       Date:  2004-08-13       Impact factor: 2.103

Review 5.  Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review.

Authors:  Ji Yoon Han; Joonhong Park
Journal:  Genes (Basel)       Date:  2021-06-29       Impact factor: 4.096
  5 in total

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