ED SmithIncidence, frequency of types and aetiology of anorectal malformationsBirth Defects Orig Artic Ser2423124619883067766

S ChoSP MooreT FangmanOne hundred three consecutive patients with anorectal malformations and their associated anomaliesArch Pediatr Adolesc Med155587591200110.1001/archpedi.155.5.58711343503

A CuschieriEUROCAT Working GroupDescriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in EuropeAm J Med Genet103207215200110.1002/ajmg.153211745992

MA LevittA PeñaAnorectal malformationsOrphanet J Rare Dis233200710.1186/1750-1172-2-33

C StollY AlembikB DottMP RothAssociated malformations in patients with anorectal anomaliesEur J Med Genet50281290200710.1016/j.ejmg.2007.04.00217572165

A CuschieriEUROCAT Working GroupAnorectal anomalies associated with or as part of other anomaliesAm J Med Genet110122130200210.1002/ajmg.1037112116249

N AcsF BánhidyEH PuhóAE CzeizelA possible association between maternal dyspepsia and congenital rectal/anal atresia/stenosis in their children: a population-based case-control studyActa Obstet Gynecol Scand8810171023200910.1080/00016340903128447

S LinJPW MunsieML Herdt-LosavioCM DruschelK CampbellML BrownePA RomittiRS OlneyEM BellNational Birth Defects Prevention StudyMaternal asthma medication use and the risk of selected birth defectsPediatrics129e317e324201210.1542/peds.2010-266022250027

IA Van RooijCH WijersPN RieuHS HendriksMM BrouwersNV KnoersI de BlaauwN RoeleveldMaternal and paternal risk factors for anorectal malformations: a Dutch case-control studyBirth Defects Res A Clin Mol Teratol88152158201020073076

A HackshawC RodeckS BonifaceMaternal smoking in pregnancy and birth defects: a systematic review based on 173 687 malformed cases and 11.7 million controlsHum Reprod Update17589604201110.1093/humupd/dmr02221747128

SC TinkerJ ReefhuisAM DellingerDJ JamiesonMaternal injuries during the periconceptional period and the risk of birth defects, National Birth Defects Prevention Study, 1997–2005Paediatr Perinat Epidemiol25487496201121819430

N ZwinkE JenetzkyH BrennerParental risk factors and anorectal malformations: systematic review and meta-analysisOrphanet J Rare Dis625201110.1186/1750-1172-6-2521586115

B SolomonVACTERL/VATER AssociationOrphanet J Rare Dis656201110.1186/1750-1172-6-56

E MundtMD BatesGenetics of Hirschsprung disease and anorectal malformationsSemin Pediatr Surg19107117201010.1053/j.sempedsurg.2009.11.01520307847

E BelloniG MartuccielloD VerderioE PontiM SeriV JasonniM TorreM FerrariLC TsuiSW SchererInvolvement of the HLXB9 homeobox gene in Currarino syndromeAm J Hum Genet66312319200010.1086/30272310631160

J KohlhaseA WischermannH ReichenbachU FrosterW EngelMutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndromeNat Genet188183199810.1038/ng0198-819425907

S KangJM Graham JrAH OlneyLG BieseckerGLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndromeNat Genet15266268199710.1038/ng0397-266

H CleversWnt/beta-catenin signaling in development and diseaseCell127469480200610.1016/j.cell.2006.10.01817081971

K DoreyE AmayaFGF signalling: diverse roles during early vertebrate embryogenesisDevelopment13737313742201010.1242/dev.03768920978071

X ZhangOA IbrahimiSK OlsenH UmemoriM MohammadiDM OrnitzReceptor specificity of the fibroblast growth factor family. The complete mammalian FGF familyJ Biol Chem2811569415700200610.1074/jbc.M60125220016597617

C Van de VenM BialeckaR NeijtsT YoungJE RowlandEJ StringerC van RooijenF MeijlinkA NóvoaJN FreundConcerted involvement of Cdx/Hox genes and Wnt signaling in morphogenesis of the caudal neural tube and cloacal derivatives from the posterior growth zoneDevelopment138345134622011

JR SpenceCN MayhewSA RankinMW KuharJE VallanceK TolleEE HoskinsVV KalinichenkoSI WellsAM ZornNF ShroyerJM WellsDirected differentiation of human pluripotent stem cells into intestinal tissue in vitroNature470105109201110.1038/nature0969121151107

M NakataY TakadaT HishikiT SaitoK TeruiY SatoH KosekiH YoshidaInduction of Wnt5a-expressing mesencymal cells adjacent to the cloacal plate is an essential process for its proximodistal elongation and subsequent anorectal developmentPediatr Res661491542009

CC TaiFG SalaHR FordKS WangC LiP MinooTC GrikscheitS BellusciWnt5a knock-out mouse as a new model of anorectal malformationJ Surg Res156278282200910.1016/j.jss.2009.03.08719577771

V MehtaLL AblerKP KeilCT SchmitzPS JoshiCM VezinaAtlas of Wnt and R-spondin gene expression in the developing male mouse lower urogenital tractDev Dyn24025482560201121936019

M LakoT StrachanP BullenDI WilsonSC RobsonS LindsayIsolation, characterisation and embryonic expression of WNT11, a gene which maps to 11q13.5 and has possible roles in the development of skeleton, kidney and lungGene21910111019989757009

H LickertA KispertS KutschR KemlerExpression patterns of Wnt genes in mouse gut developmentMech Dev105181184200110.1016/S0925-4773(01)00390-211429295

A RailoII NagyP KilpeläinenS VainioWnt-11 signaling leads to down-regulation of the Wnt/β-catenin, JNK/AP-1 and NF- B pathways and promotes viability in the CHO-K1 cellsExp Cell Res31423892399200818572162

BN CheyetteJS WaxmanJR MillerK TakemaruLC SheldahlN KhlebtsovaEP FoxT EarnestRT MoonDapper, a Dishevelled-associated antagonist of beta-catenin and JNK signaling, is required for notochord formationDev Cell2449461200210.1016/S1534-5807(02)00140-511970895

J WenYJ ChiangC GaoH XueJ XuY NingRJ HodesX GaoYG ChenLoss of Dact1 disrupts planar cell polarity signaling by altering dishevelled activity and leads to posterior malformation in miceJ Biol Chem2851102311030201010.1074/jbc.M109.08538120145239

ME PownallHV IsaacsFGF signalling in vertebrate developmentDevelopmental Biology, Book 2DS KesslerMorgan & Claypool Life SciencesCA14162010

T HaremakiY TanakaI HongoM YugeH OkamotoIntegration of multiple signal transducing pathways on Fgf response elements of the Xenopus caudal homologue Xcad3Development13049074917200310.1242/dev.0071812930781

TP YamaguchiS TakadaY YoshikawaN WuAP McMahonT (brachyury) is a direct target of Wnt3a during paraxial mesoderm specificationGenes Dev1331853190199910.1101/gad.13.24.318510617567

C PapapetrouF DrummondW ReardonR WinterL SpitzYH EdwardsA genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresiaJ Med Genet36208213199910204846

N GhebraniousRD BlankCL RaggioJ StaubliE McPhersonL IvacicK RasmussenFS JacobsenT FaciszewskiJK BurmesterA missense T (Brachyury) mutation contributes to vertebral malformationsJ Bone Miner Res23157615832008

S BagaiE RubioJF ChengR SweetR ThomasE FuchsR GradyM MitchellJA BassukFibroblast growth factor-10 is a mitogen for urothelial cellsJ Biol Chem2772382823837200210.1074/jbc.M20165820011923311

TJ FairbanksS De LangheFG SalaD WarburtonKD AndersonS BellusciRC BurnsFibroblast growth factor 10 (Fgf10) invalidation results in anorectal malformation in miceJ Pediatr Surg39360365200410.1016/j.jpedsurg.2003.11.03415017552

S YucelW LiuD CorderoA DonjacourG CunhaLS BaskinAnatomical studies of the fibroblast growth factor-10 mutant, Sonic Hedge Hog mutant and androgen receptor mutant mouse genital tubercleAdv Exp Med Biol545123148200410.1007/978-1-4419-8995-6_815086024

H OhashiH NishimotoJ NishimuraM SatoS ImaizumiT AiharaY FukushimaAnorectal anomaly in Pfeiffer syndromeClin Dysmorphol2283319938298735

WJ ParkGA MeyersX LiC ThedaD DaySJ OrlowMC JonesEW JabsNovel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variabilityHum Mol Genet412291233199510.1093/hmg/4.7.12298528214

WJ ParkC ThedaNE MaestriGA MeyersJS FryburgC DufresneMM Cohen JrEW JabsAnalysis of phenotypic features and FGFR2 mutations in Apert syndromeAm J Hum Genet5732132819957668257

RA PfeifferS RinnertR PoppG RöckeleinAsymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia in a male infantAm J Med Genet63175176199610.1002/(SICI)1096-8628(19960503)63:1%3C175::AID-AJMG30%3E3.0.CO;2-J8723105

KA PrzylepaW PaznekasM ZhangM GolabiW BiasMJ BamshadJC CareyBD HallR StevensonSJ OrlowFibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndromeNat Genet13492494199610.1038/ng0896-4928696350

BP LeHeupJP MasuttiP DroulléJ TisserandThe Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomaliesEur J Pediatr154130133199510.1007/BF019919167720741

F SchaeferC AndersonB CanB SayNovel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 caseAm J Med Genet75252255199810.1002/(SICI)1096-8628(19980123)75:3%3C252::AID-AJMG4%3E3.0.CO;2-S9475591

A KřepelováA BaxováP CaldaR PlavkaJ KaprasFGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndromeAm J Med Genet7636236419989545103

T KodakaY KanamoriM SugiyamaK HashizumeA case of acrocephalosyndactyly with low imperforate anusJ Pediatr Surg39E32E34200410.1016/j.jpedsurg.2003.09.03714694405

MB ShapiroP SenapathyRNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expressionNucleic Acids Res1571557174198710.1093/nar/15.17.71553658675

AO WilkieBad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutationsCytokine Growth Factor Rev16187203200510.1016/j.cytogfr.2005.03.00115863034

ET ShifleySE ColeThe vertebrate segmentation clock and its role in skeletal birth defectsBirth Defects Res C Embryo Today81121133200710.1002/bdrc.2009017600784

JM SchwarzC RödelspergerM SchuelkeD SeelowMutationTaster evaluates disease-causing potential of sequence alterationsNat Methods7575576201010.1038/nmeth0810-57520676075

J ThusbergA OlatubosunM VihinenPerformance of mutation pathogenicity prediction methods on missense variantsHum Mutat32358368201110.1002/humu.2144521412949

K ChunJ Siegel-BarteltD ChitayatJ PhillipsPN RayFGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndromeAm J Med Genet77219224199810.1002/(SICI)1096-8628(19980518)77:3%3C219::AID-AJMG6%3E3.0.CO;2-K9605588

CHT ParkJH PruittD BennettA mouse model for neural tube defects: The curtailed (T^c) mutation produces spina bifida occulta in T^c/+ animals and spina bifida with meningomyelocele in T^c/tTeratology3930331219892658196

J McGaughranS SinnottR SusmanMF BuckleyG ElakisT CoxT RoscioliA case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotypeClin Dysmorphol158993200610.1097/01.mcd.0000194407.92676.9d16531735

AL ShanskeD StaffenbergJT GoodrichSacral appendage in a child with an FGFR2 mutation: a report and reviewAm J Med Genet A146A21722175200810.1002/ajmg.a.3243618629881

M SeriG MartuccielloL PaleariA BolinoM PrioloG SalemiP ForaboscoF CaroliR CusanoT ToccoExclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopmentHum Genet104108110199910.1007/s00439005091910071202

V KrügerM KhoshvaghtiH ReutterH VogtTM BoemersM LudwigInvestigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloacaPediatr Surg Int248938972008

NB AgochukwuDE Pineda-AlvarezAA KeatonN Warren-MoraMS RaamA KamatSC ChandrasekharappaBD SolomonAnalysis of FOXF1 and the FOX gene cluster in patients with VACTERL associationEur J Med Genet54323328201110.1016/j.ejmg.2011.01.00721315191

M CatalaGenetic control of caudal developmentClin Genet618996200210.1034/j.1399-0004.2002.610202.x11940082

L GrumolatoG LiuP MongR MudbharyR BiswasR ArroyaveS VijayakumarAN EconomidesSA AaronsonCanonical and noncanonical Wnts use a common mechanism to activate completely unrelated coreceptorsGenes Dev2425172530201010.1101/gad.195771021078818

P Uysal-OnganerRM KyptaWnt11 in 2011 - the regulation and function of a non-canonical WntActa Physiol (Oxf)2045264201210.1111/j.1748-1716.2011.02297.x21447091