相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。DLX Genes in the Development and Maintenance of the Vertebrate Skeleton: Implications for Human Pathologies
Giovanni Levi et al.
CELLS (2022)
Genetic regulatory pathways of split-hand/foot malformation
Piranit N. Kantaputra et al.
CLINICAL GENETICS (2019)
Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation
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NATURE REVIEWS GENETICS (2018)
A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1
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7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance
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Recurrent Streptococcus Pneumoniae Meningitis in a Child with Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia
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JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES (2015)
Heterozygous DLX5 Nonsense Mutation Associated with Isolated Split-Hand/Foot Malformation with Reduced Penetrance and Variable Expressivity in Two Unrelated Families
Anna Sowinska-Seidler et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2014)
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation
Xue Wang et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
Hana Lango Allen et al.
JOURNAL OF MEDICAL GENETICS (2014)
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I
Sawitree Rattanasopha et al.
JOURNAL OF MEDICAL GENETICS (2014)
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
Naeimeh Tayebi et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia
Alper Gezdirici et al.
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Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability
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CLINICAL GENETICS (2013)
Coding exons function as tissue-specific enhancers of nearby genes
Ramon Y. Birnbaum et al.
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Functional characterization of tissue-specific enhancers in the DLX5/6 locus
Ramon Y. Birnbaum et al.
HUMAN MOLECULAR GENETICS (2012)
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation
Hanan E. Shamseldin et al.
JOURNAL OF MEDICAL GENETICS (2012)
Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis
Eva Klopocki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)
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HUMAN GENETICS (2010)
Genome-Wide Profiling of p63 DNA-Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus
Evelyn N. Kouwenhoven et al.
PLOS GENETICS (2010)
Characterization of the Complex 7q21.3 Rearrangement in a Patient With Bilateral Split-Foot Malformation and Hearing Loss
Hirotomo Saitsu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism
Anneke T. van Silfhout et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
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DLX5 expression is monoallelic and Dlx5 is up-regulated in the Mecp2-null frontal cortex
Masaru Miyano et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2008)
Complex rearrangement of chromosome 7q21.13q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency
Birgitt Schuele et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome
Noriko Itaba-Matsumoto et al.
BRAIN & DEVELOPMENT (2007)
The odyssey of MeCP2 and parental imprinting
Janine M. LaSalle
EPIGENETICS (2007)
Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome
S Horike et al.
NATURE GENETICS (2005)
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia
I Wieland et al.
JOURNAL OF MEDICAL GENETICS (2004)
A new imprinted cluster on the human chromosome 7q21-q31, identified by human-mouse monochromosomal hybrids
C Okita et al.
GENOMICS (2003)
Pathogenesis of split-hand/split-foot malformation
PHG Duijf et al.
HUMAN MOLECULAR GENETICS (2003)
Mouse model of split hand/foot malformation type I
GR Merlo et al.
GENESIS (2002)
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RF Robledo et al.
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Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔCT method
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METHODS (2001)
Distal limb malformations: underlying mechanisms and clinical associations
S Sifakis et al.
CLINICAL GENETICS (2001)