17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

(2010) Jonathan S. Berg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

(2010) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

(2009) Katarina Dathe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

(2009) L Roos et al.   JOURNAL OF MEDICAL GENETICS

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

The UCSC Genome Browser database: update 2010

(2009) B. Rhead et al.   NUCLEIC ACIDS RESEARCH

Functional resolution of duplicated hoxb5 genes in teleosts

(2008) O. Jarinova et al.   DEVELOPMENT

Nucleoredoxin regulates the Wnt/planar cell polarity pathway inXenopus

(2008) Yosuke Funato et al.   GENES TO CELLS

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3

(2008) Karina Lezirovitz et al.   HUMAN GENETICS

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation

(2008) Sibel Aylin Ugur et al.   HUMAN MOLECULAR GENETICS