Literature DB >> 12205121

Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect.

K Brockmann, R Böhm, J Bürger.   

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Year:  2002        PMID： 12205121      PMCID： PMC1735229          DOI： 10.1136/jmg.39.9.e51

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


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  3 in total

1.  A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.

Authors:  Amber Geerts-Haages; Stijn N V Bossuyt; Inge den Besten; Hennie Bruggenwirth; Ineke van der Burgt; Helger G Yntema; A Mattijs Punt; Alice Brooks; Ype Elgersma; Ben Distel; Marlies Valstar
Journal:  Mol Genet Genomic Med       Date:  2020-09-05       Impact factor: 2.183

2.  Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Authors:  Marwan K Tayeh; Janean DeVaul; Kristin LeSueur; Chen Yang; Jirair K Bedoyan; Peedikayil Thomas; Mark C Hannibal; Jeffrey W Innis
Journal:  Am J Med Genet A       Date:  2022-04-01       Impact factor: 2.578

3.  Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.

Authors:  Ruchi Punatar; Alena Egense; Rong Mao; Melinda Procter; Michelle Bosworth; Denise I Quigley; Kathleen Angkustsiri; Suma P Shankar
Journal:  Mol Genet Genomic Med       Date:  2022-08-04       Impact factor: 2.473
  3 in total

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