Literature DB >> 28108830

Electroclinical characteristics and neuropsychological profile of a female child with chromosome 5p13.2 duplication syndrome.

Elisabetta Lucarelli1, Maria Grazia Pasca1, Isabella Fanizza1, Antonio Trabacca2.   

Abstract

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Year:  2017        PMID： 28108830     DOI： 10.1007/s10072-017-2825-9

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  10 in total

Review 1.  Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome.

Authors:  J R Avansino; T R Dennis; P Spallone; A D Stock; M L Levin
Journal:  Am J Med Genet       Date:  1999-11-05

Review 2.  Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.

Authors:  Loredana D'Amato Sizonenko; Daniel Ng; Paul Oei; Ingrid Winship
Journal:  Am J Med Genet       Date:  2002-07-22

3.  [FAMILIAL SEGREGATION OF A 5-13 TRANSLOCATION DETERMINING PARTIAL MONOSOMY AND A TRISOMY OF THE SHORT ARM OF THE 5 CHROMOSOME: "CAT CRY" DISEASE AND ITS "RECEPROCAL"].

Authors:  J LEJEUNE; J LAFOURCADE; R BERGER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1964-06-08

4.  Neonatal detection of 5p13.2 duplication and delineation of the phenotype.

Authors:  M Carmen Carrascosa Romero; Rosa García Hoyo; María Calvente; María Baquero Cano; Llanos González Castillo; Javier Suela
Journal:  Am J Med Genet A       Date:  2012-03-09       Impact factor: 2.802

5.  3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

Authors:  Konrad Oexle; Maja Hempel; Anna Jauch; Thomas Meitinger; Núria Rivera-Brugués; Sabine Stengel-Rutkowski; Tim Strom
Journal:  Eur J Med Genet       Date:  2011-01-04       Impact factor: 2.708

6.  Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.

Authors:  J Yan; F Zhang; E Brundage; A Scheuerle; B Lanpher; R P Erickson; Z Powis; H B Robinson; P L Trapane; D Stachiw-Hietpas; K M Keppler-Noreuil; S R Lalani; T Sahoo; A C Chinault; A Patel; S W Cheung; J R Lupski
Journal:  J Med Genet       Date:  2008-12-03       Impact factor: 6.318

7.  Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5).

Authors:  Lauren C Walters-Sen; Kathy Windemuth; Katie Angione; Jenisha Nandhlal; Jeff M Milunsky
Journal:  Eur J Med Genet       Date:  2015-04-06       Impact factor: 2.708

8.  Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.

Authors:  Silvia Russo; Maura Masciadri; Cristina Gervasini; Jacopo Azzollini; Anna Cereda; Giuseppe Zampino; Oskar Haas; Gioacchino Scarano; Maja Di Rocco; Palma Finelli; Romano Tenconi; Angelo Selicorni; Lidia Larizza
Journal:  Eur J Hum Genet       Date:  2012-02-22       Impact factor: 4.246

9.  5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

Authors:  Francesca Novara; Enrico Alfei; Stefano D'Arrigo; Chiara Pantaleoni; Silvana Beri; Valentina Achille; Francesca L Sciacca; Roberto Giorda; Orsetta Zuffardi; Roberto Ciccone
Journal:  Eur J Med Genet       Date:  2012-10-18       Impact factor: 2.708

10.  Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration.

Authors:  Debbie L C van den Berg; Roberta Azzarelli; Koji Oishi; Ben Martynoga; Noelia Urbán; Dick H W Dekkers; Jeroen A Demmers; François Guillemot
Journal:  Neuron       Date:  2016-12-29       Impact factor: 17.173
  10 in total

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