Literature DB >> 12624156

Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl.

G Barbi, C Spaich, S Adolph, H Kehrer-Sawatzki.   

Abstract

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Year:  2003        PMID： 12624156      PMCID： PMC1735408          DOI： 10.1136/jmg.40.3.e27

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


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  6 in total

1.  Molecular-cytogenetic characterization of the origin and the presence of pericentromeric euchromatin on minute supernumerary marker chromosomes (SMCs).

Authors:  T Liehr; G Hickmann; P Kozlowski; U Claussen; H Starke
Journal:  Chromosome Res       Date:  2004       Impact factor: 5.239

Review 2.  Chromosomal dynamics of human neocentromere formation.

Authors:  Peter E Warburton
Journal:  Chromosome Res       Date:  2004       Impact factor: 5.239

Review 3.  Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution.

Authors:  Owen J Marshall; Anderly C Chueh; Lee H Wong; K H Andy Choo
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

4.  Genome characterization and CRISPR-Cas9 editing of a human neocentromere.

Authors:  Antonio Palazzo; Ilaria Piccolo; Crescenzio Francesco Minervini; Stefania Purgato; Oronzo Capozzi; Pietro D'Addabbo; Cosimo Cumbo; Francesco Albano; Mariano Rocchi; Claudia Rita Catacchio
Journal:  Chromosoma       Date:  2022-08-17       Impact factor: 2.919

5.  Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.

Authors:  Isabel M Carreira; Joana B Melo; Carlos Rodrigues; Liesbeth Backx; Joris Vermeesch; Anja Weise; Nadezda Kosyakova; Guiomar Oliveira; Eunice Matoso
Journal:  Mol Cytogenet       Date:  2009-08-04       Impact factor: 2.009

6.  Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report.

Authors:  Sabita K Murthy; Ashok K Malhotra; Preenu S Jacob; Sehba Naveed; Eman Em Al-Rowaished; Sara Mani; Shabeer Padariyakam; R Pramathan; Ravi Nath; Mahmoud Taleb Al-Ali; Lihadh Al-Gazali
Journal:  Mol Cytogenet       Date:  2008-08-14       Impact factor: 2.009
  6 in total

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