Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/31941
Full metadata record
DC FieldValueLanguage
dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP-
dc.contributor.authorBURRAGE, Lindsay C.-
dc.contributor.authorREYNOLDS, John J.-
dc.contributor.authorBARATANG, Nissan Vida-
dc.contributor.authorPHILLIPS, Jennifer B.-
dc.contributor.authorWEGNER, Jeremy-
dc.contributor.authorMCFARQUHAR, Ashley-
dc.contributor.authorHIGGS, Martin R.-
dc.contributor.authorCHRISTIANSEN, Audrey E.-
dc.contributor.authorLANZA, Denise G.-
dc.contributor.authorSEAVITT, John R.-
dc.contributor.authorJAIN, Mahim-
dc.contributor.authorLI, Xiaohui-
dc.contributor.authorPARRY, David A.-
dc.contributor.authorRAMAN, Vandana-
dc.contributor.authorCHITAYAT, David-
dc.contributor.authorCHINN, Ivan K.-
dc.contributor.authorBERTUCH, Alison A.-
dc.contributor.authorKARAVITI, Lefkothea-
dc.contributor.authorSCHLESINGER, Alan E.-
dc.contributor.authorEARL, Dawn-
dc.contributor.authorBAMSHAD, Michael-
dc.contributor.authorSAVARIRAYAN, Ravi-
dc.contributor.authorDODDAPANENI, Harsha-
dc.contributor.authorMUZNY, Donna-
dc.contributor.authorJHANGIANI, Shalini N.-
dc.contributor.authorENG, Christine M.-
dc.contributor.authorGIBBS, Richard A.-
dc.contributor.authorBI, Weimin-
dc.contributor.authorEMRICK, Lisa-
dc.contributor.authorROSENFELD, Jill A.-
dc.contributor.authorPOSTLETHWAIT, John-
dc.contributor.authorWESTERFIELD, Monte-
dc.contributor.authorDICKINSON, Mary E.-
dc.contributor.authorBEAUDET, Arthur L.-
dc.contributor.authorRANZA, Emmanuelle-
dc.contributor.authorHUBER, Celine-
dc.contributor.authorCORMIER-DAIRE, Valerie-
dc.contributor.authorSHEN, Wei-
dc.contributor.authorMAO, Rong-
dc.contributor.authorHEANEY, Jason D.-
dc.contributor.authorORANGE, I. Jordan S.-
dc.contributor.authorBERTOLA, Debora-
dc.contributor.authorYAMAMOTO, Guilherme L.-
dc.contributor.authorBARATELA, Wagner Ar-
dc.contributor.authorBUTLER, Merlin G.-
dc.contributor.authorALI, Asim-
dc.contributor.authorADELI, Mehdi-
dc.contributor.authorCOHN, Daniel H.-
dc.contributor.authorKRAKOW, Deborah-
dc.contributor.authorJACKSON, Andrew P.-
dc.contributor.authorLEES, Melissa-
dc.contributor.authorOFFIAH, Amaka C.-
dc.contributor.authorCARLSTON, Colleen M.-
dc.contributor.authorCAREY, John C.-
dc.contributor.authorSTEWART, Grant S.-
dc.contributor.authorBACINO, Carlos A.-
dc.contributor.authorCAMPEAU, Philippe M.-
dc.contributor.authorLEE, Brendan-
dc.date.accessioned2019-05-30T13:45:51Z-
dc.date.available2019-05-30T13:45:51Z-
dc.date.issued2019-
dc.identifier.citationAMERICAN JOURNAL OF HUMAN GENETICS, v.104, n.3, p.422-438, 2019-
dc.identifier.issn0002-9297-
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/31941-
dc.description.abstractSPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts, short dental roots, and hypogammaglobulinemia have also been reported in this disorder. Although an autosomal-recessive inheritance pattern has been hypothesized, pathogenic variants in a specific gene have not been discovered in individuals with SPONASTRIME dysplasia. Here, we identified bi-allelic variants in TONSL, which encodes the Tonsoku-like DNA repair protein, in nine subjects (from eight families) with SPONASTRIME dysplasia, and four subjects (from three families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities, but no definitive metaphyseal striations at diagnosis. The finding of early embryonic lethality in a Tonsl(-/-) murine model and the discovery of reduced length, spinal abnormalities, reduced numbers of neutrophils, and early lethality in a tonsl(-/-) zebrafish model both support the hypomorphic nature of the identified TONSL variants. Moreover, functional studies revealed increased amounts of spontaneous replication fork stalling and chromosomal aberrations, as well as fewer camptothecin (CPT)-induced RAD51 foci in subject-derived cell lines. Importantly, these cellular defects were rescued upon re-expression of wild-type (WT) TONSL; this rescue is consistent with the hypothesis that hypomorphic TONSL variants are pathogenic. Overall, our studies in humans, mice, zebrafish, and subject-derived cell lines confirm that pathogenic variants in TONSL impair DNA replication and homologous recombination-dependent repair processes, and they lead to a spectrum of skeletal dysplasia phenotypes with numerous extra-skeletal manifestations.eng
dc.description.sponsorshipNational Institutes of Health (NIH) [U01HG007709, UM1HG006348, U54NS093793, U54HG006493, R01AI120989]-
dc.description.sponsorshipUniversity of Utah Pathology Departmental Funds-
dc.description.sponsorshipUniversity Pathologists (ARUP) Laboratories Roberts Memorial Fund Research Award-
dc.description.sponsorshipNIH [R01AR062651, R01AR066124, K08DK106453]-
dc.description.sponsorshipBurroughs-Wellcome Fund-
dc.description.sponsorshipNIH National Institute of General Medical Sciences (NIGMS) [T32GM007526]-
dc.description.sponsorshipNIH/Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) [U54HD083092]-
dc.description.sponsorshipCanadian Institutes of Health Research (CIHR)-
dc.description.sponsorshipFonds de Recherche du Quebec - Sante (FRQS)-
dc.description.sponsorshipQuebec Network for Oral and Bone Health Research (RSBO)-
dc.description.sponsorshipCancer Research UK (CR-UK) programme [C17183/A23303]-
dc.description.sponsorshipUniversity of Birmingham-
dc.description.sponsorshipMedical Research Council (MRC) Career Development Fellowship [MR/P009085/1]-
dc.description.sponsorshipMRC UK [U127580972]-
dc.description.sponsorshipEuropean Research Council (ERC) through the European Union's Horizon 2020 research and innovation program ERC Advanced Grant [788093]-
dc.description.sponsorshipTelethon Italy [GTB18001]-
dc.description.sponsorshipSao Paulo Research Foundation (FAPESP) [2015/21783-9/CEPID 2013/08028-1]-
dc.description.sponsorshipCNPq [304130/2016-8]-
dc.language.isoeng-
dc.publisherCELL PRESSeng
dc.relation.ispartofAmerican Journal of Human Genetics-
dc.rightsrestrictedAccesseng
dc.subject.othermms22l-nfkbil2 complexeng
dc.subject.othermms22l-tonsl complexeng
dc.subject.otherread alignmenteng
dc.subject.otherreplicationeng
dc.subject.otherrecombinationeng
dc.subject.otherpredictioneng
dc.subject.otherstabilityeng
dc.subject.otherframeworkeng
dc.subject.otherchromatineng
dc.subject.othermutationeng
dc.titleBi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypeseng
dc.typearticleeng
dc.rights.holderCopyright CELL PRESSeng
dc.contributor.groupauthorUniv Washington Ctr Mendelian-
dc.contributor.groupauthorUndiagnosed Dis Network-
dc.identifier.doi10.1016/j.ajhg.2019.01.007-
dc.identifier.pmid30773277-
dc.subject.wosGenetics & Heredityeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
hcfmusp.author.externalBURRAGE, Lindsay C.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA; Texas Childrens Hosp, Houston, TX 77030 USA-
hcfmusp.author.externalREYNOLDS, John J.:Univ Birmingham, Inst Canc & Genom Sci, Birmingham B15 2TT, W Midlands, England-
hcfmusp.author.externalBARATANG, Nissan Vida:Univ Montreal, Ctr Hosp Univ St Justine Res Ctr, Montreal, PQ H3T 1J4, Canada-
hcfmusp.author.externalPHILLIPS, Jennifer B.:Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA-
hcfmusp.author.externalWEGNER, Jeremy:Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA-
hcfmusp.author.externalMCFARQUHAR, Ashley:Univ Montreal, Ctr Hosp Univ St Justine Res Ctr, Montreal, PQ H3T 1J4, Canada-
hcfmusp.author.externalHIGGS, Martin R.:Univ Birmingham, Inst Canc & Genom Sci, Birmingham B15 2TT, W Midlands, England-
hcfmusp.author.externalCHRISTIANSEN, Audrey E.:Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA-
hcfmusp.author.externalLANZA, Denise G.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA-
hcfmusp.author.externalSEAVITT, John R.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA-
hcfmusp.author.externalJAIN, Mahim:Kennedy Krieger Inst, Dept Bone & Osteogenesis Imperfecta, Baltimore, MD 21205 USA-
hcfmusp.author.externalLI, Xiaohui:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA-
hcfmusp.author.externalPARRY, David A.:Univ Edinburgh, Western Gen Hosp, Med Res Council Inst Genet & Mol Med, Crewe Rd, Edinburgh EH4 2XU, Midlothian, Scotland-
hcfmusp.author.externalRAMAN, Vandana:Univ Utah, Div Pediat Endocrinol & Diabet, Salt Lake City, UT 84112 USA-
hcfmusp.author.externalCHITAYAT, David:Univ Toronto, Mt Sinai Hosp, Dept Obstet & Gynecol, Prenatal Diag & Med Genet Program, Toronto, ON M5G 1Z5, Canada; Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada-
hcfmusp.author.externalCHINN, Ivan K.:Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA; Texas Childrens Hosp, Div Pediat Immunol Allergy & Rheumatol, Houston, TX 77030 USA-
hcfmusp.author.externalBERTUCH, Alison A.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA-
hcfmusp.author.externalKARAVITI, Lefkothea:Texas Childrens Hosp, Div Diabet & Endocrinol, Houston, TX 77030 USA-
hcfmusp.author.externalSCHLESINGER, Alan E.:Texas Childrens Hosp, Dept Pediat Radiol, Houston, TX 77030 USA; Baylor Coll Med, Dept Radiol, Houston, TX 77030 USA-
hcfmusp.author.externalEARL, Dawn:Seattle Childrens Hosp, Seattle, WA 98195 USA-
hcfmusp.author.externalBAMSHAD, Michael:Seattle Childrens Hosp, Seattle, WA 98195 USA; Univ Washington, Dept Pediat, Seattle, WA 98195 USA; Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA-
hcfmusp.author.externalSAVARIRAYAN, Ravi:Univ Melbourne, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic 3052, Australia-
hcfmusp.author.externalDODDAPANENI, Harsha:Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA-
hcfmusp.author.externalMUZNY, Donna:Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA-
hcfmusp.author.externalJHANGIANI, Shalini N.:Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA-
hcfmusp.author.externalENG, Christine M.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA; Baylor Genet, Houston, TX 77030 USA-
hcfmusp.author.externalGIBBS, Richard A.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA; Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA-
hcfmusp.author.externalBI, Weimin:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA; Baylor Genet, Houston, TX 77030 USA-
hcfmusp.author.externalEMRICK, Lisa:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA; Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA; Baylor Coll Med, Div Neurol & Dev Neurosci, Houston, TX 77030 USA-
hcfmusp.author.externalROSENFELD, Jill A.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA-
hcfmusp.author.externalPOSTLETHWAIT, John:Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA-
hcfmusp.author.externalWESTERFIELD, Monte:Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA-
hcfmusp.author.externalDICKINSON, Mary E.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA; Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA-
hcfmusp.author.externalBEAUDET, Arthur L.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA-
hcfmusp.author.externalRANZA, Emmanuelle:Univ Geneva, Geneva Univ Hosp, Serv Genet Med, Med Sch, CH-1205 Geneva, Switzerland-
hcfmusp.author.externalHUBER, Celine:Univ Paris 05, Hop Necker Enfants Malades, AP HP, Dept Genet,INSEAM UMR1163,Sorbonne Paris Cite,Ins, F-75015 Paris, France-
hcfmusp.author.externalCORMIER-DAIRE, Valerie:Univ Paris 05, Hop Necker Enfants Malades, AP HP, Dept Genet,INSEAM UMR1163,Sorbonne Paris Cite,Ins, F-75015 Paris, France-
hcfmusp.author.externalSHEN, Wei:Associated Reg & Univ Pathologists Labs, Salt Lake City, UT 84108 USA; Univ Utah, Dept Pathol, Salt Lake City, UT 84112 USA-
hcfmusp.author.externalMAO, Rong:Associated Reg & Univ Pathologists Labs, Salt Lake City, UT 84108 USA; Univ Utah, Dept Pathol, Salt Lake City, UT 84112 USA-
hcfmusp.author.externalHEANEY, Jason D.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA-
hcfmusp.author.externalORANGE, I. Jordan S.:Texas Childrens Hosp, Div Pediat Immunol Allergy & Rheumatol, Houston, TX 77030 USA; Columbia Univ, Dept Pediat, Vagelos Coll Phys & Surg, New York Presbyterian, New York, NY 10032 USA-
hcfmusp.author.externalBUTLER, Merlin G.:Kansas Univ, Med Ctr, Dept Psychiat, Kansas City, KS 66160 USA; Kansas Univ, Med Ctr, Dept Behav Sci, Kansas City, KS 66160 USA; Kansas Univ, Med Ctr, Dept Pediat, Kansas City, KS 66160 USA-
hcfmusp.author.externalALI, Asim:Univ Toronto, Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada-
hcfmusp.author.externalADELI, Mehdi:Hamad Med Corp, Weill Cornell Med, Dept Allergy & Immunol Sidra Med, Doha, Qatar-
hcfmusp.author.externalCOHN, Daniel H.:Univ Calif Los Angeles, Dept Mol Cell & Dev Biol, Los Angeles, CA 90095 USA; Univ Calif Los Angeles, Dept Orthopaed Surg, Los Angeles, CA 90095 USA-
hcfmusp.author.externalKRAKOW, Deborah:Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg, Dept Human Genet, Los Angeles, CA 90095 USA; Univ Calif Los Angeles, David Geffen Sch Med, Dept Obstet & Gynecol, Los Angeles, CA 90095 USA-
hcfmusp.author.externalJACKSON, Andrew P.:Univ Edinburgh, Inst Genet & Mol Med, Med Res Council Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland-
hcfmusp.author.externalLEES, Melissa:Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London WC1N 3JH, England-
hcfmusp.author.externalOFFIAH, Amaka C.:Univ Sheffield, Acad Unit Child Hlth, Dept Oncol & Metab, Sheffield S10 2TH, S Yorkshire, England-
hcfmusp.author.externalCARLSTON, Colleen M.:Associated Reg & Univ Pathologists Labs, Salt Lake City, UT 84108 USA; Univ Utah, Dept Pathol, Salt Lake City, UT 84112 USA-
hcfmusp.author.externalCAREY, John C.:Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT 84112 USA-
hcfmusp.author.externalSTEWART, Grant S.:Univ Birmingham, Inst Canc & Genom Sci, Birmingham B15 2TT, W Midlands, England-
hcfmusp.author.externalBACINO, Carlos A.:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA; Texas Childrens Hosp, Houston, TX 77030 USA-
hcfmusp.author.externalCAMPEAU, Philippe M.:Univ Montreal, Ctr Hosp Univ St Justine Res Ctr, Montreal, PQ H3T 1J4, Canada-
hcfmusp.author.externalLEE, Brendan:Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA; Texas Childrens Hosp, Houston, TX 77030 USA-
hcfmusp.description.beginpage422-
hcfmusp.description.endpage438-
hcfmusp.description.issue3-
hcfmusp.description.volume104-
hcfmusp.origemWOS-
hcfmusp.origem.idWOS:000460541200009-
hcfmusp.origem.id2-s2.0-85062417308-
hcfmusp.publisher.cityCAMBRIDGEeng
hcfmusp.publisher.countryUSAeng
hcfmusp.relation.referenceAdzhubei IA, 2010, NAT METHODS, V7, P248, DOI 10.1038/nmeth0410-248eng
hcfmusp.relation.referenceBainbridge MN, 2011, GENOME BIOL, V12, DOI 10.1186/gb-2011-12-7-r68eng
hcfmusp.relation.referenceBassett AR, 2013, CELL REP, V4, P220, DOI 10.1016/j.celrep.2013.06.020eng
hcfmusp.relation.referenceBoerkoel CF, 2002, NAT GENET, V30, P215, DOI 10.1038/ng821eng
hcfmusp.relation.referenceCampos EI, 2015, MOL CELL, V60, P697, DOI 10.1016/j.molcel.2015.08.005eng
hcfmusp.relation.referenceChallis D, 2012, BMC BIOINFORMATICS, V13, DOI 10.1186/1471-2105-13-8eng
hcfmusp.relation.referenceCooper HA, 2000, AM J MED GENET, V92, P33, DOI 10.1002/(SICI)1096-8628(20000501)92:1<33::AID-AJMG6>3.0.CO;2-Ueng
hcfmusp.relation.referenceCottineau J, 2017, J CLIN INVEST, V127, P1991, DOI 10.1172/JCI90727eng
hcfmusp.relation.referenceDesmet FO, 2009, NUCLEIC ACIDS RES, V37, DOI 10.1093/nar/gkp215eng
hcfmusp.relation.referenceDuro E, 2010, MOL CELL, V40, P632, DOI 10.1016/j.molcel.2010.10.023eng
hcfmusp.relation.referenceFANCONI S, 1983, HELV PAEDIATR ACTA, V38, P267eng
hcfmusp.relation.referenceFilocamo M.a, 2014, OPEN J BIORESOURCESeng
hcfmusp.relation.referenceGripp KW, 2008, AM J MED GENET A, V146A, P468, DOI 10.1002/ajmg.a.32155eng
hcfmusp.relation.referenceHalevy RS, 2018, HUM MUTAT, V39, P811, DOI 10.1002/humu.23417eng
hcfmusp.relation.referenceHarley ME, 2016, NAT GENET, V48, P36, DOI 10.1038/ng.3451eng
hcfmusp.relation.referenceHodgkins A, 2015, BIOINFORMATICS, V31, P3078, DOI 10.1093/bioinformatics/btv308eng
hcfmusp.relation.referenceHuang TH, 2018, MOL CELL, V69, P879, DOI 10.1016/j.molcel.2018.01.031eng
hcfmusp.relation.referenceHunter KB, 2010, EUR J PEDIATR, V169, P801, DOI 10.1007/s00431-009-1115-9eng
hcfmusp.relation.referenceJian XQ, 2014, NUCLEIC ACIDS RES, V42, P13534, DOI 10.1093/nar/gku1206eng
hcfmusp.relation.referenceKircher M, 2014, NAT GENET, V46, P310, DOI 10.1038/ng.2892eng
hcfmusp.relation.referenceKumar P, 2009, NAT PROTOC, V4, P1073, DOI 10.1038/nprot.2009.86eng
hcfmusp.relation.referenceLACHMAN RS, 1989, PEDIATR RADIOL, V19, P417, DOI 10.1007/BF02387640eng
hcfmusp.relation.referenceLanger LO, 1997, PEDIATR RADIOL, V27, P409, DOI 10.1007/s002470050157eng
hcfmusp.relation.referenceLanger LO, 1996, AM J MED GENET, V63, P20, DOI 10.1002/(SICI)1096-8628(19960503)63:1<20::AID-AJMG7>3.0.CO;2-Weng
hcfmusp.relation.referenceLanza DG, 2018, BMC BIOL, V16, DOI 10.1186/s12915-018-0529-0eng
hcfmusp.relation.referenceLi H, 2010, BIOINFORMATICS, V26, P589, DOI 10.1093/bioinformatics/btp698eng
hcfmusp.relation.referenceLi H, 2009, BIOINFORMATICS, V25, P1754, DOI 10.1093/bioinformatics/btp324eng
hcfmusp.relation.referenceLiu D, 2014, J GENET GENOMICS, V41, P43, DOI 10.1016/j.jgg.2013.11.004eng
hcfmusp.relation.referenceLonsdale J, 2013, NAT GENET, V45, P580, DOI 10.1038/ng.2653eng
hcfmusp.relation.referenceLopes F, 2018, EUR J NEUROL, V25, pE123, DOI 10.1111/ene.13782eng
hcfmusp.relation.referenceMasuno M, 1996, AM J MED GENET, V66, P429, DOI 10.1002/(SICI)1096-8628(19961230)66:4<429::AID-AJMG8>3.0.CO;2-Feng
hcfmusp.relation.referenceMcKenna A, 2010, GENOME RES, V20, P1297, DOI 10.1101/gr.107524.110eng
hcfmusp.relation.referenceMo DL, 2018, CANCER LETT, V413, P1, DOI 10.1016/j.canlet.2017.10.021eng
hcfmusp.relation.referenceMorio T, 2017, INT J HEMATOL, V106, P357, DOI 10.1007/s12185-017-2263-8eng
hcfmusp.relation.referenceNieminuszczy J, 2016, METHODS, V108, P92, DOI 10.1016/j.ymeth.2016.04.019eng
hcfmusp.relation.referenceNishimura G, 1998, AM J MED GENET, V80, P288, DOI 10.1002/(SICI)1096-8628(19981116)80:3<288::AID-AJMG22>3.0.CO;2-Aeng
hcfmusp.relation.referenceO'Connell BC, 2010, MOL CELL, V40, P645, DOI 10.1016/j.molcel.2010.10.022eng
hcfmusp.relation.referenceO'Donnell L, 2010, MOL CELL, V40, P619, DOI 10.1016/j.molcel.2010.10.024eng
hcfmusp.relation.referenceOffiah AC, 2001, J MED GENET, V38, P889, DOI 10.1136/jmg.38.12.889eng
hcfmusp.relation.referencePiwko W, 2016, EMBO J, V35, P2584, DOI 10.15252/embj.201593132eng
hcfmusp.relation.referencePiwko W, 2010, EMBO J, V29, P4210, DOI 10.1038/emboj.2010.304eng
hcfmusp.relation.referenceReid JG, 2014, BMC BIOINFORMATICS, V15, DOI 10.1186/1471-2105-15-30eng
hcfmusp.relation.referenceRenshaw SA, 2006, BLOOD, V108, P3976, DOI 10.1182/blood-2006-05-024075eng
hcfmusp.relation.referenceReynolds JJ, 2017, NAT GENET, V49, P537, DOI 10.1038/ng.3790eng
hcfmusp.relation.referenceSaredi G, 2016, NATURE, V534, P714, DOI 10.1038/nature18312eng
hcfmusp.relation.referenceSchlacher K, 2011, CELL, V145, P529, DOI 10.1016/j.cell.2011.03.041eng
hcfmusp.relation.referenceSchwarz JM, 2014, NAT METHODS, V11, P361, DOI 10.1038/nmeth.2890eng
hcfmusp.relation.referenceSobreira Nara, 2015, Hum Mutat, V36, P928, DOI 10.1002/humu.22844eng
hcfmusp.relation.referenceStewart GS, 1999, CELL, V99, P577, DOI 10.1016/S0092-8674(00)81547-0eng
hcfmusp.relation.referenceSzafranski P, 2017, MAMM GENOME, V28, P275, DOI 10.1007/s00335-017-9686-7eng
hcfmusp.relation.referenceTecher H, 2013, J MOL BIOL, V425, P4845, DOI 10.1016/j.jmb.2013.03.040eng
hcfmusp.relation.referenceUmpaichitra V, 2002, CLIN DYSMORPHOL, V11, P53, DOI 10.1097/00019605-200201000-00011eng
hcfmusp.relation.referenceWalker MB, 2007, BIOTECH HISTOCHEM, V82, P23, DOI 10.1080/10520290701333558eng
hcfmusp.relation.referenceWang AT, 2015, MOL CELL, V59, P478, DOI 10.1016/j.molcel.2015.07.009eng
hcfmusp.relation.referenceWesterfield M., 2007, ZEBRAFISH BOOK GUIDEeng
hcfmusp.relation.referenceYang YP, 2014, JAMA-J AM MED ASSOC, V312, P1870, DOI 10.1001/jama.2014.14601eng
dc.description.indexMEDLINEeng
dc.identifier.eissn1537-6605-
hcfmusp.citation.scopus10-
hcfmusp.scopus.lastupdate2022-06-10-
Appears in Collections:

Artigos e Materiais de Revistas Científicas - HC/ICr
Instituto da Criança - HC/ICr

Artigos e Materiais de Revistas Científicas - LIM/36
LIM/36 - Laboratório de Pediatria Clínica


Files in This Item:
File Description SizeFormat 
art_BURRAGE_Biallelic_Variants_in_TONSL_Cause_SPONASTRIME_Dysplasia_and_2019.PDF
  Restricted Access
2.01 MBAdobe PDFView/Open Request a copy

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.