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

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

DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations

(2014) Michela Restelli et al.   HUMAN MOLECULAR 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

Structural variations, the regulatory landscape of the genome and their alteration in human disease

(2013) Malte Spielmann et al.   BIOESSAYS

CNVs of noncoding cis-regulatory elements in human disease

(2013) Malte Spielmann et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

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

Functional changes between seasons in the male songbird auditory forebrain

(2013) Geert De Groof et al.   Frontiers in Behavioral Neuroscience

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

(2012) Malte Spielmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

(2012) Atsuo Kikuchi et al.   MOLECULAR GENETICS AND METABOLISM

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

(2011) Christine M Armour et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

(2011) Eva Klopocki et al.   JOURNAL OF 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

Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

(2010) Eva Klopocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Split-hand and split-foot deformity inherited as an autosomal recessive trait

(2010) Ishwar c. Verma et al.   CLINICAL GENETICS

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

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