Phenotypic subregions within the split-hand/foot malformation 1 locus

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

(2015) Darío G. Lupiáñez et al.   CELL

The landscape of genomic imprinting across diverse adult human tissues

(2015) Yael Baran et al.   GENOME RESEARCH

Genetic conflict reflected in tissue-specific maps of genomic imprinting in human and mouse

(2015) Tomas Babak et al.   NATURE GENETICS

Gamma Rhythms Link Prefrontal Interneuron Dysfunction with Cognitive Inflexibility in Dlx5/6+/− Mice

(2015) Kathleen K.A. Cho et al.   NEURON

7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance

(2015) Sara Delgado et al.   Molecular Cytogenetics

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation

(2014) Xue Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence forDYNC1I1exonic enhancers ofDLX5/6expression in humans

(2014) Hana Lango Allen et al.   JOURNAL OF MEDICAL GENETICS

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

(2014) Naeimeh Tayebi et al.   Orphanet Journal of Rare Diseases

Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update

(2013) Fiorella Gurrieri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

(2013) Ana Carolina S Fonseca et al.   BMC Medical Genetics

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

(2013) Lusine Nazaryan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Split-hand/foot malformation - molecular cause and implications in genetic counseling

(2013) Anna Sowińska-Seidler et al.   JOURNAL OF APPLIED GENETICS

A 0.7 Mb de novo duplication at 7q21.3 including the genesDLX5andDLX6in a patient with split-hand/split-foot malformation

(2012) Milen Velinov et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rapp–Hodgkin syndrome and SHFM1 patients: Delineating the p63–Dlx5/Dlx6 pathway

(2012) Ascensión Vera-Carbonell et al.   GENE

Coding exons function as tissue-specific enhancers of nearby genes

(2012) Ramon Y. Birnbaum et al.   GENOME RESEARCH

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

(2012) Ramon Y. Birnbaum et al.   HUMAN MOLECULAR GENETICS

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

(2011) Anne Gregor et al.   BMC Medical Genetics

Identification of a novelDLX5mutation in a family with autosomal recessive split hand and foot malformation

(2011) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1

(2010) Jean-Christophe Marinoni et al.   CLINICAL GENETICS

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations

(2010) Tomonobu Hasegawa et al.   CLINICAL GENETICS

Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes

(2010) Anna C. Obenauf et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

(2010) Evelyn N. Kouwenhoven et al.   PLoS Genetics

Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss

(2009) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

(2009) Anneke T van Silfhout et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)

(2009) Kerry K. Brown et al.   HUMAN GENETICS

Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects

(2008) N. Lo Iacono et al.   DEVELOPMENT