Literature DB >> 9188675

Genotype and phenotype in Angelman syndrome caused by paternal UPD 15.

C Prasad, J Wagstaff.   

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Year:  1997        PMID： 9188675     DOI： 10.1002/(sici)1096-8628(19970613)70:3<328::aid-ajmg21>3.0.co;2-m

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  6 in total

1.  Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.

Authors:  T Sahoo; S U Peters; N S Madduri; D G Glaze; J R German; L M Bird; R Barbieri-Welge; T J Bichell; A L Beaudet; C A Bacino
Journal:  J Med Genet       Date:  2005-09-23       Impact factor: 6.318

2.  Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

Authors:  A C Lossie; M M Whitney; D Amidon; H J Dong; P Chen; D Theriaque; A Hutson; R D Nicholls; R T Zori; C A Williams; D J Driscoll
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

3.  Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.

Authors:  Russell John Thompson; Patrick F Bolton
Journal:  J Autism Dev Disord       Date:  2003-04

4.  Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

Authors:  Emese Horváth; Zsuzsanna Horváth; Dóra Isaszegi; Gyurgyinka Gergev; Nikoletta Nagy; János Szabó; László Sztriha; Márta Széll; Emőke Endreffy
Journal:  Mol Cytogenet       Date:  2013-09-08       Impact factor: 2.009

5.  Refining the Behavioral Phenotype of Angelman Syndrome: Examining Differences in Motivation for Social Contact Between Genetic Subgroups.

Authors:  Mary Heald; Dawn Adams; Emily Walls; Christopher Oliver
Journal:  Front Behav Neurosci       Date:  2021-02-16       Impact factor: 3.558

6.  Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes.

Authors:  Maria Teresa Bonati; Silvia Russo; Palma Finelli; Maria Rosa Valsecchi; Francesca Cogliati; Florinda Cavalleri; Wendy Roberts; Maurizio Elia; Lidia Larizza
Journal:  Neurogenetics       Date:  2007-04-06       Impact factor: 3.017
  6 in total

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