Literature DB >> 29306918

3q29 microduplication in a small family with complex metabolic phenotype from Southern Italy.

Andrea Vitale1,2, Giuseppe Labruna3, Annamaria Mancini1,2, Andreina Alfieri1,2, Laura Iaffaldano4, Carmela Nardelli4, Fabrizio Pasanisi5, Lucio Pastore2,4, Pasqualina Buono1,3,6, Barbara Lombardo4,7.   

Abstract

Keywords:  3q29 microduplication; CGH array; morbid obesity

Mesh：

Year:  2018        PMID： 29306918     DOI： 10.1515/cclm-2017-1090

Source DB:  PubMed          Journal:  Clin Chem Lab Med        ISSN： 1434-6621            Impact factor:   3.694


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  4 in total

1.  Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report.

Authors:  Annaluisa Ranieri; Iolanda Veneruso; Ilaria La Monica; Maria Grazia Pascale; Lucio Pastore; Valeria D'Argenio; Barbara Lombardo
Journal:  Medicina (Kaunas)       Date:  2022-04-07       Impact factor: 2.948

2.  New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.

Authors:  Rebecca M Pollak; Michael C Zinsmeister; Melissa M Murphy; Michael E Zwick; Jennifer G Mulle
Journal:  Am J Med Genet A       Date:  2020-03-10       Impact factor: 2.802

3.  Identification of a De Novo Deletion by Using A-CGH Involving PLNAX2: An Interesting Candidate Gene in Psychomotor Developmental Delay.

Authors:  Noemi Falcone; Annaluisa Ranieri; Andrea Vitale; Lucio Pastore; Barbara Lombardo
Journal:  Medicina (Kaunas)       Date:  2022-04-08       Impact factor: 2.948

4.  An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome.

Authors:  Filipa Reis; Cristina Pereira; Maria Laureano; Teresa Cartaxo
Journal:  Cureus       Date:  2020-03-08
  4 in total

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