Long-range gene control and genetic disease (Q37087615)

18 August 2017

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title

Long-range gene control and genetic disease (English)

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18 August 2017

1

Dirk A Kleinjan

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18 August 2017

Laura A Lettice

2

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18 August 2017

publication date

1 January 2008

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18 August 2017

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18 August 2017

volume

61

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18 August 2017

page(s)

339-388

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Sequence variants in SLITRK1 are associated with Tourette's syndrome

18 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Physical linkage of the human growth hormone gene cluster and the CD79b (Ig beta/B29) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A genetic variant that disrupts MET transcription is associated with autism

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Chance and necessity: the evolution of morphological complexity and diversity

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Long-range chromatin regulatory interactions in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Genetic analysis of patients with the Saethre-Chotzen phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Spatial organization of gene expression: the active chromatin hub.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Gene autonomy: Positions, please..

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Breakpoints around the HOXD cluster result in various limb malformations.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Distant liaisons: long-range enhancer-promoter interactions in Drosophila.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

The evolution of 'bricolage'.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Identification of a variant associated with adult-type hypolactasia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Chromatin boundaries and chromatin domains.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Transcriptional control thrown for a loop

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Inappropriate Gene Activation in FSHD

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Position-independent, high-level expression of the human beta-globin gene in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Analysis of a key regulatory region upstream of the Myf5 gene reveals multiple phases of myogenesis, orchestrated at each site by a combination of elements dispersed throughout the locus.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A high-resolution genetic, physical, and comparative gene map of the doublefoot (Dbf) region of mouse chromosome 1 and the region of conserved synteny on human chromosome 2q35.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A common genetic variant is associated with adult and childhood obesity

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Regulatory regions from the Brn4 promoter direct LACZ expression to the developing forebrain and neural tube

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Mouse small eye results from mutations in a paired-like homeobox-containing gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Sonic hedgehog: restricted expression and limb dysmorphologies

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

High incidence of SHOX anomalies in individuals with short stature.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Position-effect variegation and the new biology of heterochromatin

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Characterization of the pufferfish Otx2 cis-regulators reveals evolutionarily conserved genetic mechanisms for vertebrate head specification.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Conditional inactivation of Sox9: a mouse model for campomelic dysplasia.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Long-range downstream enhancers are essential for Pax6 expression

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

3' deletions cause aniridia by preventing PAX6 gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Fox's in development and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Disruption of formin-encoding transcripts in two mutant limb deformity alleles

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Single base pair change in the long-range Sonic hedgehog limb-specific enhancer is a genetic basis for preaxial polydactyly.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Is there a functional link between gene interdigitation and multi-species conservation of synteny blocks?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Mouse model of split hand/foot malformation type I

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Scanning Human Gene Deserts for Long-Range Enhancers

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https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Megabase deletions of gene deserts result in viable mice

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Evolution and functional classification of vertebrate gene deserts

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A 11.7-kb deletion triggers intersexuality and polledness in goats

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Long-range activation of Sox9 in Odd Sex (Ods) mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

The chick oligozeugodactyly (ozd) mutant lacks sonic hedgehog function in the limb

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Human chromosome 7: DNA sequence and biology

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A global control region defines a chromosomal regulatory landscape containing the HoxD cluster

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Large scale transgenic and cluster deletion analysis of the HoxD complex separate an ancestral regulatory module from evolutionary innovations

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Control of Hoxd genes' collinearity during early limb development

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Regulatory constraints in the evolution of the tetrapod limb anterior-posterior polarity.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Convergent adaptation of human lactase persistence in Africa and Europe

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Looping and interaction between hypersensitive sites in the active beta-globin locus

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

An upstream polymorphism associated with lactase persistence has increased enhancer activity

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Functional analysis of chicken Sox2 enhancers highlights an array of diverse regulatory elements that are conserved in mammals

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Integration of a transposon into the Gli3 gene in the Pdn mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Genetics, individuality, and medicine in the 21st century

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Molecular linkage of the morphogenetic mutation add and the zinc finger gene Gli3

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Gene transpositions in the HoxD complex reveal a hierarchy of regulatory controls.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

PAX6 in sensory development

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

The Sequence of the Human Genome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Point mutations in human GLI3 cause Greig syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Highly conserved non-coding sequences are associated with vertebrate development

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

A dual role for Hox genes in limb anterior-posterior asymmetry

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Formin defines a large family of morphoregulatory genes and functions in establishment of the polarising region

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

Mouse limb deformity mutations disrupt a global control region within the large regulatory landscape required for Gremlin expression

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900013-2

7 January 2021

10.1016/S0065-2660(07)00013-2

Identifiers

DOI

1 reference

18 August 2017

1 reference