Long-range gene control and genetic disease.

[1]  C. Epstein,et al.  Inborn errors of development : the molecular basis of clinical disorders of morphogenesis , 2016 .

[2]  K. Devriendt,et al.  Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism , 2007, European Journal of Human Genetics.

[3]  J. Lupski,et al.  Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. , 2007, American journal of human genetics.

[4]  Hiroshi Masuya,et al.  A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud. , 2007, Genomics.

[5]  C. Tickle,et al.  Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. , 2006, Human molecular genetics.

[6]  P. Stankiewicz,et al.  Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia , 2006, Clinical genetics.

[7]  T. Ian Simpson,et al.  Long-range downstream enhancers are essential for Pax6 expression , 2006, Developmental biology.

[8]  Pat Levitt,et al.  A genetic variant that disrupts MET transcription is associated with autism , 2006, Proceedings of the National Academy of Sciences.

[9]  D. Duboule,et al.  Regulatory constraints in the evolution of the tetrapod limb anterior–posterior polarity , 2006, Nature.

[10]  P. Fraser.  Transcriptional control thrown for a loop. , 2006, Current opinion in genetics & development.

[11]  Florian Caiment,et al.  A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep , 2006, Nature Genetics.

[12]  D. Higgs,et al.  A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element. , 2006, Blood.

[13]  F. Hu,et al.  A Common Genetic Variant Is Associated with Adult and Childhood Obesity , 2006, Science.

[14]  A. Munnich,et al.  High incidence of SHOX anomalies in individuals with short stature , 2006, Journal of Medical Genetics.

[15]  U. Dohrmann,et al.  Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern. , 2006, Developmental biology.

[16]  Michael R. Green,et al.  Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 , 2006, Nature.

[17]  Maximilian Muenke,et al.  A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers , 2006, Development.

[18]  J. Lupski,et al.  Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect , 2006, Annals of neurology.

[19]  A. Stensballe,et al.  T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro. , 2005, Human molecular genetics.

[20]  Murat Gunel,et al.  Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome , 2005, Science.

[21]  D. Schlessinger,et al.  An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. , 2005, The Journal of clinical investigation.

[22]  V. Maloney,et al.  A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. , 2005, American journal of human genetics.

[23]  J. Herbrick,et al.  Holoprosencephaly and cleidocranial dysplasia in a patient due to two position‐effect mutations: case report and review of the literature , 2005, Clinical genetics.

[24]  T. Ogata,et al.  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 , 2005, American journal of medical genetics. Part A.

[25]  J. Raes,et al.  Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. , 2005, American journal of human genetics.

[26]  S. Mundlos,et al.  Breakpoints around the HOXD cluster result in various limb malformations , 2005, Journal of Medical Genetics.

[27]  D. Ovcharenko,et al.  Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. , 2005, Genome research.

[28]  E. Grice,et al.  A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk , 2005, Nature.

[29]  P. Stankiewicz,et al.  Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia , 2005 .

[30]  Katherine L Hill-Harfe,et al.  Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. , 2005, American journal of human genetics.

[31]  J. Helms,et al.  The fickle finger of fate. , 2005, The Journal of clinical investigation.

[32]  S. A. Maas,et al.  Single base pair change in the long‐range Sonic hedgehog limb‐specific enhancer is a genetic basis for preaxial polydactyly , 2005, Developmental dynamics : an official publication of the American Association of Anatomists.

[33]  D. Vetrie,et al.  Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms , 2004, Journal of Medical Genetics.

[34]  R. Frants,et al.  Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. , 2004, American journal of human genetics.

[35]  Klaudia Walter,et al.  Highly Conserved Non-Coding Sequences Are Associated with Vertebrate Development , 2004, PLoS biology.

[36]  A. MacKenzie,et al.  Is there a functional link between gene interdigitation and multi-species conservation of synteny blocks? , 2004, BioEssays : news and reviews in molecular, cellular and developmental biology.

[37]  U. Bengtsson,et al.  Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease? , 2004, Human molecular genetics.

[38]  D. Duboule,et al.  Mouse limb deformity mutations disrupt a global control region within the large regulatory landscape required for Gremlin expression. , 2004, Genes & development.

[39]  Colin E Bishop,et al.  Long-range activation of Sox9 in Odd Sex (Ods) mice. , 2004, Human molecular genetics.

[40]  D. Duboule,et al.  A Dual Role for Hox Genes in Limb Anterior-Posterior Asymmetry , 2004, Science.

[41]  I. Krantz,et al.  Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B , 2004, Nature Genetics.

[42]  Tom Strachan,et al.  NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome , 2004, Nature Genetics.

[43]  D. Schlessinger,et al.  FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. , 2004, Genomics.

[44]  Edward M. Rubin,et al.  Megabase deletions of gene deserts result in viable mice , 2004, Nature.

[45]  D. Dorsett,et al.  Drosophila Nipped-B Protein Supports Sister Chromatid Cohesion and Opposes the Stromalin/Scc3 Cohesion Factor To Facilitate Long-Range Activation of the cut Gene , 2004, Molecular and Cellular Biology.

[46]  K. Lindenberg,et al.  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 , 2004, Journal of Medical Genetics.

[47]  David Valle,et al.  Genetics, individuality, and medicine in the 21st century. , 2004, American journal of human genetics.

[48]  S. Patil,et al.  Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome. , 2004, Birth defects research. Part A, Clinical and molecular teratology.

[49]  S. Aizawa,et al.  Characterization of the pufferfish Otx2 cis-regulators reveals evolutionarily conserved genetic mechanisms for vertebrate head specification , 2004, Development.

[50]  E. Wolf,et al.  Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud , 2003, Development.

[51]  J. Olsen,et al.  An upstream polymorphism associated with lactase persistence has increased enhancer activity. , 2003, Gastroenterology.

[52]  M. Ehrlich,et al.  Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. , 2003, Human molecular genetics.

[53]  M. Nóbrega,et al.  Scanning Human Gene Deserts for Long-Range Enhancers , 2003, Science.

[54]  N. Dillon.  Gene autonomy: Positions, please... , 2003, Nature.

[55]  E. Jabs,et al.  Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening , 2003, Human Genetics.

[56]  L. Olds,et al.  Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element. , 2003, Human molecular genetics.

[57]  Frank Grosveld,et al.  Spatial organization of gene expression: the active chromatin hub , 2003, Chromosome Research.

[58]  P. Rigby,et al.  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 , 2003, Development.

[59]  B. Oostra,et al.  A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. , 2003, Human molecular genetics.

[60]  D. Higgs,et al.  Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease , 2003, Nature Genetics.

[61]  Tim Jordan,et al.  Fox's in development and disease. , 2003, Trends in genetics : TIG.

[62]  Junjun Zhang,et al.  Human Chromosome 7: DNA Sequence and Biology , 2003, Science.

[63]  Denis Duboule,et al.  A Global Control Region Defines a Chromosomal Regulatory Landscape Containing the HoxD Cluster , 2003, Cell.

[64]  D. David,et al.  Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly. , 2003, Genomics.

[65]  H. Kondoh,et al.  Functional analysis of chicken Sox2 enhancers highlights an array of diverse regulatory elements that are conserved in mammals. , 2003, Developmental cell.

[66]  J. Hughes,et al.  De novo deletion within the telomeric region flanking the human α globin locus as a cause of α thalassaemia , 2003, British journal of haematology.

[67]  Sean M. Hasso,et al.  The chick oligozeugodactyly (ozd) mutant lacks sonic hedgehog function in the limb , 2003, Development.

[68]  E. Nanba,et al.  Integration of a transposon into the Gli3 gene in the Pdn mouse , 2002, Congenital anomalies.

[69]  Erik Splinter,et al.  Looping and interaction between hypersensitive sites in the active beta-globin locus. , 2002, Molecular cell.

[70]  D. Higgs,et al.  Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype. , 2002, Blood.

[71]  Cameron S. Osborne,et al.  Long-range chromatin regulatory interactions in vivo , 2002, Nature Genetics.

[72]  J. Crolla,et al.  Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. , 2002, American journal of human genetics.

[73]  L. Shaffer,et al.  Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki–Shaffer syndrome , 2002, European Journal of Human Genetics.

[74]  Michael R. Green,et al.  Inappropriate Gene Activation in FSHD A Repressor Complex Binds a Chromosomal Repeat Deleted in Dystrophic Muscle , 2002, Cell.

[75]  S. Scherer,et al.  Genetic analysis of patients with the Saethre-Chotzen phenotype. , 2002, American journal of medical genetics.

[76]  D. Galas,et al.  A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. , 2002, American journal of medical genetics.

[77]  G. Merlo,et al.  Mouse model of split hand/foot malformation type I , 2002, Genesis.

[78]  V. van Heyningen,et al.  PAX6 in sensory development. , 2002, Human molecular genetics.

[79]  Naoto Endo,et al.  Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[80]  T. Lufkin,et al.  The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development. , 2002, Genes & development.

[81]  S. Antonarakis,et al.  A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. , 2002, Genomics.

[82]  K. Lindpaintner,et al.  Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease , 2002, Journal of medical genetics.

[83]  R. Balling,et al.  Conditional inactivation of Sox9: A mouse model for campomelic dysplasia , 2002, Genesis.

[84]  G. Elgar,et al.  Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance , 2002, Mammalian Genome.

[85]  M. Fellous,et al.  A 11.7-kb deletion triggers intersexuality and polledness in goats , 2001, Nature Genetics.

[86]  M. Lyon,et al.  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. , 2001, Genomics.

[87]  C. Ferraz,et al.  Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions. , 2001, Genomics.

[88]  A. Schedl,et al.  Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. , 2001, Human molecular genetics.

[89]  D. Duboule,et al.  Large scale transgenic and cluster deletion analysis of the HoxD complex separate an ancestral regulatory module from evolutionary innovations. , 2001, Genes & development.

[90]  E. Crenshaw,et al.  Regulatory regions from the Brn4 promoter direct LACZ expression to the developing forebrain and neural tube. , 2001, Brain research. Developmental brain research.

[91]  M Dioszegi,et al.  Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). , 2001, Human molecular genetics.

[92]  D. Galas,et al.  Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. , 2001, American journal of human genetics.

[93]  S. Carroll.  Chance and necessity: the evolution of morphological complexity and diversity , 2001, Nature.

[94]  D. Schlessinger,et al.  The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome , 2001, Nature Genetics.

[95]  D. Walton,et al.  3' deletions cause aniridia by preventing PAX6 gene expression. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[96]  Paul A. Overbeek,et al.  A transgenic insertion upstream of Sox9 is associated with dominant XX sex reversal in the mouse , 2000, Nature Genetics.

[97]  M. W. Glynn,et al.  Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. , 2000, American journal of human genetics.

[98]  D. Kingsley,et al.  A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. , 2000, Genomics.

[99]  N. Dillon,et al.  Functional gene expression domains: defining the functional unit of eukaryotic gene regulation. , 2000, BioEssays : news and reviews in molecular, cellular and developmental biology.

[100]  J. Sgouros,et al.  A 700-kb physical map of a region of 16q23.2 homozygously deleted in multiple cancers and spanning the common fragile site FRA16D. , 2000, Cancer research.

[101]  D. Kingsley,et al.  Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[102]  E. Calzolari,et al.  Townes‐Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient , 1999, Human mutation.

[103]  D. Dorsett,et al.  Distant liaisons: long-range enhancer-promoter interactions in Drosophila. , 1999, Current opinion in genetics & development.

[104]  G. Mirza,et al.  An interstitial deletion of 6p24-p25 proximal to theFKHL7 locus and includingAP-2α that affects anterior eye chamber development. , 1999, Journal of medical genetics.

[105]  B. Birren,et al.  Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. , 1999, American journal of human genetics.

[106]  D. Dorsett,et al.  Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. , 1999, Genetics.

[107]  E. Zackai,et al.  Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly , 1999, Nature Genetics.

[108]  S W Scherer,et al.  A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. , 1999, Genomics.

[109]  T. Gibson,et al.  Formin defines a large family of morphoregulatory genes and functions in establishment of the polarising region , 1999, Cell and Tissue Research.

[110]  R. Krumlauf,et al.  Identification of Sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch , 1999, Current Biology.

[111]  P N Goodfellow,et al.  Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[112]  M. Lyon,et al.  Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling. , 1998, Development.

[113]  V. Sheffield,et al.  The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 , 1998, Nature Genetics.

[114]  S. Liebhaber,et al.  Physical linkage of the human growth hormone gene cluster and the CD79b (Ig beta/B29) gene. , 1998, Genomics.

[115]  W. Hul,et al.  Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. , 1998, American journal of human genetics.

[116]  D. Nižetić,et al.  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. , 1998, Genomics.

[117]  A. Wilkins,et al.  The evolution of 'bricolage'. , 1998, Trends in genetics : TIG.

[118]  M. Kalff-Suske,et al.  Point mutations in human GLI3 cause Greig syndrome. , 1997, Human molecular genetics.

[119]  Y. Hérault,et al.  Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes. , 1997, Development.

[120]  P. Bolton,et al.  Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene. , 1997, Human molecular genetics.

[121]  S. Scherer,et al.  Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly , 1997, Human Genetics.

[122]  C. Helms,et al.  Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly , 1996, Nature Genetics.

[123]  S. Scherer,et al.  Mutations in the human Sonic Hedgehog gene cause holoprosencephaly , 1996, Nature Genetics.

[124]  P. Beachy,et al.  Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function , 1996, Nature.

[125]  C. Cremers,et al.  Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. , 1996, Human molecular genetics.

[126]  P. Rashbass,et al.  Influence of PAX6 Gene Dosage on Development: Overexpression Causes Severe Eye Abnormalities , 1996, Cell.

[127]  D. Duboule,et al.  Gene Transpositions in the HoxD Complex Reveal a Hierarchy of Regulatory Controls , 1996, Cell.

[128]  B. Trask,et al.  Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. , 1996, Journal of medical genetics.

[129]  S. Scherer,et al.  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. , 1996, Human molecular genetics.

[130]  R. Tupler,et al.  Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. , 1996, Journal of medical genetics.

[131]  F. Cremers,et al.  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. , 1995, Human molecular genetics.

[132]  P. Vyas,et al.  Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element. , 1995, Genomics.

[133]  Y. Fukushima,et al.  Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. , 1995, Human molecular genetics.

[134]  S. Scherer,et al.  Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. , 1994, Human molecular genetics.

[135]  G. Karpen,et al.  Position-effect variegation and the new biology of heterochromatin. , 1994, Current opinion in genetics & development.

[136]  J E Hewitt,et al.  FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. , 1993, Human molecular genetics.

[137]  C. Wijmenga,et al.  Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy , 1992, Nature genetics.

[138]  L. Strong,et al.  Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region , 1991, Cell.

[139]  G. Saunders,et al.  Mouse Small eye results from mutations in a paired-like homeobox-containing gene , 1991, Nature.

[140]  K. Grzeschik,et al.  GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families , 1991, Nature.

[141]  P. Leder,et al.  Disruption of formin-encoding transcripts in two mutant limb deformity alleles , 1990, Nature.

[142]  A. Wilkie,et al.  Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. , 1990, Blood.

[143]  M. Dickinson,et al.  Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[144]  B. Alter,et al.  Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[145]  G. Kollias,et al.  Position-independent, high-level expression of the human β-globin gene in transgenic mice , 1987, Cell.

[146]  D. Mccormick.  Sequence the Human Genome , 1986, Bio/Technology.

[147]  Holly M. Mortensen,et al.  Convergent adaptation of human lactase persistence in Africa and Europe , 2007, Nature Genetics.

[148]  A. Bowcock,et al.  Two novel point mutations in the long‐range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly , 2007, American journal of medical genetics. Part A.

[149]  D. Duboule,et al.  Control of Hoxd genes' collinearity during early limb development. , 2006, Developmental cell.

[150]  P. Stankiewicz,et al.  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. , 2005, American journal of human genetics.

[151]  S. Mundlos,et al.  An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. , 2005, The Journal of clinical investigation.

[152]  Webb Miller,et al.  Evolution and functional classification of vertebrate gene deserts. , 2005, Genome research.

[153]  Hiroshi Masuya,et al.  Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh) , 2004, Mammalian Genome.

[154]  R. Ghirlando,et al.  Chromatin boundaries and chromatin domains. , 2004, Cold Spring Harbor symposia on quantitative biology.

[155]  K. Grzeschik,et al.  Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt) , 2004, Mammalian Genome.

[156]  U. Rüther,et al.  Molecular linkage of the morphogenetic mutation add and the zinc finger gene Gli3 , 2004, Mammalian Genome.

[157]  L. Lettice,et al.  Sonic hedgehog: restricted expression and limb dysmorphologies , 2003, Journal of anatomy.

[158]  B. Kerr,et al.  Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. , 2002, Human molecular genetics.

[159]  Leena Peltonen,et al.  Identification of a variant associated with adult-type hypolactasia , 2002, Nature Genetics.

[160]  M. Daly,et al.  Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. , 2001, American journal of human genetics.

[161]  D. Phippard,et al.  The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear. , 2000, Human molecular genetics.

[162]  E. Stone,et al.  Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. , 1998, American journal of ophthalmology.

[163]  C. Wijmenga,et al.  The FSHD‐linked locus D4F104S1 (p13E‐11) ON 4q35 has a homologue on 10qter , 1995, Muscle & nerve. Supplement.

[164]  D. Kioussis,et al.  Beta-globin gene inactivation by DNA translocation in gamma beta-thalassaemia. , 1983, Nature.