Literature DB >> 22887345

Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.

Toshiki Takenouchi1, Tatsuhiko Yagihashi, Hiroyuki Tsuchiya, Chiharu Torii, Kumiko Hayashi, Rika Kosaki, Shinji Saitoh, Takao Takahashi, Kenjiro Kosaki.   

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Year:  2012        PMID： 22887345     DOI： 10.1002/ajmg.a.35230

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

Review 1.  Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

Authors:  Kimberly Goodspeed; Cassandra Newsom; Mary Ann Morris; Craig Powell; Patricia Evans; Sailaja Golla
Journal:  J Child Neurol       Date:  2018-01-10       Impact factor: 1.987

2.  A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period.

Authors:  Nazan Eras
Journal:  Mol Syndromol       Date:  2020-09-10

Review 3.  Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature.

Authors:  Jing Wang; Ling Xiao; Junling Wang; Zijin Ding; Jie Ni; Xiaoyan Long
Journal:  Neurol Sci       Date:  2021-04-08       Impact factor: 3.307

4.  Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.

Authors:  Valerie Maduro; Barbara N Pusey; Praveen F Cherukuri; Paul Atkins; Christèle du Souich; Rosemarie Rupps; Marjolaine Limbos; David R Adams; Samarth S Bhatt; Patrice Eydoux; Amanda E Links; Anna Lehman; May C Malicdan; Christopher E Mason; Marie Morimoto; James C Mullikin; Andrew Sear; Clara Van Karnebeek; Pawel Stankiewicz; William A Gahl; Camilo Toro; Cornelius F Boerkoel
Journal:  Orphanet J Rare Dis       Date:  2016-05-14       Impact factor: 4.123

Review 5.  Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.

Authors:  J David Sweatt
Journal:  Exp Mol Med       Date:  2013-05-03       Impact factor: 8.718
  5 in total

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