Literature DB >> 10905896

Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1.

H Knoblauch, G Thiel, S Tinschert, H Körner, C Tennstedt, R Chaoui, J Kohlhase, C Dixkens, C Blanck.   

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Year:  2000        PMID： 10905896      PMCID： PMC1734584          DOI： 10.1136/jmg.37.5.389

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


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  3 in total

1.  Clinical Implications of Chromosome 16 Copy Number Variation.

Authors:  Emine Ikbal Atli; Sinem Yalcintepe; Engin Atli; Selma Demir; Cisem Mail; Hakan Gurkan
Journal:  Mol Syndromol       Date:  2021-12-15

2.  Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

Authors:  Tanya M Bardakjian; Adele S Schneider; David Ng; Jennifer J Johnston; Leslie G Biesecker
Journal:  BMC Med Genet       Date:  2009-12-16       Impact factor: 2.103

3.  Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.

Authors:  Rita Genesio; Valentina Ronga; Pia Castelluccio; Gennaro Fioretti; Angela Mormile; Graziella Leone; Anna Conti; Maria Luigia Cavaliere; Lucio Nitsch
Journal:  Mol Cytogenet       Date:  2013-08-01       Impact factor: 2.009
  3 in total

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