Literature DB >> 12114487

Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11-->q11:)/46,XX karyotype.

F Von Eggeling, C Hoppe, U Bartz, H Starke, G Houge, U Claussen, G Ernst, D Kotzot, T Liehr.   

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Year:  2002        PMID： 12114487      PMCID： PMC1735169          DOI： 10.1136/jmg.39.7.519

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


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  3 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

2.  Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.

Authors:  Heike Starke; Angela Nietzel; Anja Weise; Anita Heller; Kristin Mrasek; Britta Belitz; Christine Kelbova; Marianne Volleth; Beate Albrecht; Beate Mitulla; Ralf Trappe; Iris Bartels; Sabine Adolph; Andreas Dufke; Sylke Singer; Markus Stumm; Rolf-Dieter Wegner; Jörg Seidel; Angela Schmidt; Alma Kuechler; Isolde Schreyer; Uwe Claussen; Ferdinand von Eggeling; Thomas Liehr
Journal:  Hum Genet       Date:  2003-09-16       Impact factor: 4.132

Review 3.  A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

Authors:  Jörg Seidel; Anita Heller; Gabriele Senger; Heike Starke; Ilse Chudoba; Christina Kelbova; Holger Tönnies; Heidemarie Neitzel; Claudia Haase; Volkmar Beensen; Felix Zintl; Uwe Claussen; Thomas Liehr
Journal:  Eur J Pediatr       Date:  2003-06-19       Impact factor: 3.183
  3 in total

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