Literature DB >> 12362039

Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?

D Kotzot.   

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Year:  2002        PMID： 12362039      PMCID： PMC1734974          DOI： 10.1136/jmg.39.10.775

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


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  7 in total

Review 1.  Small supernumerary marker chromosomes and uniparental disomy have a story to tell.

Authors:  Thomas Liehr; Elisabeth Ewers; Ahmed B Hamid; Nadezda Kosyakova; Martin Voigt; Anja Weise; Marina Manvelyan
Journal:  J Histochem Cytochem       Date:  2011-06-14       Impact factor: 2.479

2.  Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.

Authors:  Diane Van Opstal; Marjan Boter; Petra Noomen; Malgorzata Srebniak; Guus Hamers; Robert-Jan H Galjaard
Journal:  Mol Cytogenet       Date:  2011-01-14       Impact factor: 2.009

Review 3.  The dilemma of diagnostic testing for Prader-Willi syndrome.

Authors:  Arabella Smith; Dorothy Hung
Journal:  Transl Pediatr       Date:  2017-01

4.  Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

Authors:  Joanna Pietrzak; Kristin Mrasek; Ewa Obersztyn; Pawel Stankiewicz; Nadezda Kosyakova; Anja Weise; Sau Wai Cheung; Wei Wen Cai; Ferdinand von Eggeling; Tadeusz Mazurczak; Ewa Bocian; Thomas Liehr
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240

5.  Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Authors:  Christopher M Grochowski; Shen Gu; Bo Yuan; Julia Tcw; Kristen J Brennand; Jonathan Sebat; Dheeraj Malhotra; Shane McCarthy; Uwe Rudolph; Anna Lindstrand; Zechen Chong; Deborah L Levy; James R Lupski; Claudia M B Carvalho
Journal:  Hum Mutat       Date:  2018-05-11       Impact factor: 4.878

6.  Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.

Authors:  Consuelo Salas-Labadía; Esther Lieberman; Roberto Cruz-Alcívar; Pilar Navarrete-Meneses; Samuel Gómez; Consuelo Cantú-Reyna; Karin Buiting; Carola Durán-McKinster; Patricia Pérez-Vera
Journal:  Mol Cytogenet       Date:  2014-09-25       Impact factor: 2.009

7.  Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.

Authors:  Huili Xue; Liangpu Xu; Hailong Huang; Yan Wang; Gang An; Min Zhang; Yuan Lin
Journal:  Mol Cytogenet       Date:  2019-03-11       Impact factor: 2.009
  7 in total

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