Literature DB >> 7442771

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.

D H Ledbetter, V M Riccardi, S D Airhart, R J Strobel, B S Keenan, J D Crawford.   

Abstract

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Year:  1981        PMID： 7442771     DOI： 10.1056/NEJM198102053040604

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  141 in total

1.  Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.

Authors:  K Devriendt; G Matthijs; S Claes; E Legius; W Proesmans; J J Cassiman; J P Fryns
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.

Authors:  T Webb; J Clayton-Smith; X J Cheng; J H Knoll; M Lalande; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

3.  Angelman's syndrome.

Authors:  J Clayton-Smith
Journal:  Arch Dis Child       Date:  1992-07       Impact factor: 3.791

Review 4.  Genomic copy number variation in disorders of cognitive development.

Authors:  Eric M Morrow
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2010-11       Impact factor: 8.829

Review 5.  Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23.

Authors:  F S Dahdaleh; J C Carr; D Calva; J R Howe
Journal:  Clin Genet       Date:  2011-09-06       Impact factor: 4.438

6.  In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics.

Authors:  Angèle Nalbandian; Katrina J Llewellyn; Arianna Gomez; Naomi Walker; Hailing Su; Andrew Dunnigan; Marilyn Chwa; Jouni Vesa; M C Kenney; Virginia E Kimonis
Journal:  Mitochondrion       Date:  2015-02-25       Impact factor: 4.160

7.  Aberrant White Matter Microstructure in Children and Adolescents With the Subtype of Prader-Willi Syndrome at High Risk for Psychosis.

Authors:  Akvile Lukoshe; Gerbrich E van den Bosch; Aad van der Lugt; Steven A Kushner; Anita C Hokken-Koelega; Tonya White
Journal:  Schizophr Bull       Date:  2017-09-01       Impact factor: 9.306

8.  Sudden cardiac death in a child affected by Prader-Willi syndrome.

Authors:  Cristoforo Pomara; Stefano D'Errico; Irene Riezzo; Gian Pio de Cillis; Vittorio Fineschi
Journal:  Int J Legal Med       Date:  2005-03-05       Impact factor: 2.686

9.  Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.

Authors:  A Smith; M Prasad; Z M Deng; L Robson; T Woodage; R J Trent
Journal:  Arch Dis Child       Date:  1995-05       Impact factor: 3.791

Review 10.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
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