Literature DB >> 16191008

Uniparental disomy.

Dawn H Siegel1, Anne Slavotinek.   

Abstract

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Year:  2005        PMID： 16191008     DOI： 10.1111/j.1525-1470.2005.00122.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


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  6 in total

1.  Complete maternal isodisomy of chromosome 5 in a Japanese patient with Netherton syndrome.

Authors:  Sanae Numata; Takahiro Hamada; Kwesi Teye; Mitsuhiro Matsuda; Norito Ishii; Tadashi Karashima; Kenji Kabashima; Minao Furumura; Chika Ohata; Takashi Hashimoto
Journal:  J Invest Dermatol       Date:  2013-09-16       Impact factor: 8.551

2.  SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes.

Authors:  Manuel G Afable; Marcin Wlodarski; Hideki Makishima; Mohammed Shaik; Mikkael A Sekeres; Ramon V Tiu; Matt Kalaycio; Christine L O'Keefe; Jaroslaw P Maciejewski
Journal:  Blood       Date:  2011-04-28       Impact factor: 22.113

3.  A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Authors:  Olga Shchagina; Ludmila Bessonova; Igor Bychkov; Tatiana Beskorovainaya; Aleksander Poliakov
Journal:  Genes (Basel)       Date:  2020-07-19       Impact factor: 4.096

4.  Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients.

Authors:  Haibei Li; Haiqi Yang; Nan Lv; Caiyun Ma; Jingjie Li; Qing Shang
Journal:  Mol Med Rep       Date:  2019-06-05       Impact factor: 2.952

5.  First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.

Authors:  Ping Zhang; Bingbing Wu; Yulan Lu; Qi Ni; Renchao Liu; Wenhao Zhou; Huijun Wang
Journal:  Mol Genet Genomic Med       Date:  2020-01-27       Impact factor: 2.183

6.  Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.

Authors:  Elizabeth R Kerr; Gary M Stuhlmiller; George C Maha; Mark A Ladd; Fady M Mikhail; Ruth P Koester; Anna C E Hurst
Journal:  Mol Cytogenet       Date:  2018-12-20       Impact factor: 2.009
  6 in total

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