Literature DB >> 11186943

The first three mosaic cri du chat syndrome patients with two rearranged cell lines.

C Perfumo, P Cerruti Mainardi, A Calí, G Coucourde, F Zara, S Cavani, J Overhauser, F D Bricarelli, M Pierluigi.   

Abstract

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Year:  2000        PMID： 11186943      PMCID： PMC1734487          DOI： 10.1136/jmg.37.12.967

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


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  8 in total

1.  Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.

Authors:  Elyes Chabchoub; Laura Rodríguez; Enrique Galán; Elena Mansilla; Maria Luisa Martínez-Fernandez; Maria Luisa Martínez-Frías; Jean-Pierre Fryns; Joris Robert Vermeesch
Journal:  J Med Genet       Date:  2006-12-15       Impact factor: 6.318

Review 2.  5p deletions: Current knowledge and future directions.

Authors:  Joanne M Nguyen; Krista J Qualmann; Rebecca Okashah; AmySue Reilly; Mikhail F Alexeyev; Dennis J Campbell
Journal:  Am J Med Genet C Semin Med Genet       Date:  2015-08-03       Impact factor: 3.908

3.  Mosaic cri-du-chat syndrome in a girl with a mild phenotype.

Authors:  Lilia Maria de Azevedo Moreira; Acácia Fernandes Lacerda de Carvalho; Ana Lúcia Vieira de Freitas Borja; Paula Sanders Pereira Pinto; Adriana Silveira; Lucy Magalhães de Freitas; Maria de Lourdes Lima Falcão
Journal:  J Appl Genet       Date:  2008       Impact factor: 3.240

4.  Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.

Authors:  P C Mainardi; C Perfumo; A Calì; G Coucourde; G Pastore; S Cavani; F Zara; J Overhauser; M Pierluigi; F D Bricarelli
Journal:  J Med Genet       Date:  2001-03       Impact factor: 6.318

Review 5.  Cri du Chat syndrome.

Authors:  Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2006-09-05       Impact factor: 4.123

Review 6.  Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.

Authors:  Natalia V Kovaleva; Philip D Cotter
Journal:  Mol Cytogenet       Date:  2017-05-19       Impact factor: 2.009

7.  Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome.

Authors:  Thiago Corrêa; Bruno César Feltes; Mariluce Riegel
Journal:  Genet Mol Biol       Date:  2019-04-11       Impact factor: 1.771

8.  Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.

Authors:  Jiasun Su; Huayu Fu; Bobo Xie; Weiliang Lu; Wei Li; Yuan Wei; Qiang Zhang; Shengkai Wei; Qiuli Chen; Yingchi Lu; Tingting Jiang; Jingsi Luo; Zailong Qin
Journal:  Mol Cytogenet       Date:  2019-12-09       Impact factor: 2.009
  8 in total

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