Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/22581
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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP-
dc.contributor.authorBRANDAO, Maira Pontual-
dc.contributor.authorCOSTA, Elaine Maria Frade-
dc.contributor.authorFUKAMI, Maki-
dc.contributor.authorGERDULO, Mariza-
dc.contributor.authorPEREIRA, Natalia P.-
dc.contributor.authorDOMENICE, Sorahia-
dc.contributor.authorOGATA, Tsutomu-
dc.contributor.authorMENDONCA, Berenice B.-
dc.date.accessioned2017-11-27T16:23:25Z-
dc.date.available2017-11-27T16:23:25Z-
dc.date.issued2011-
dc.identifier.citationHORMONAL AND GENETIC BASIS OF SEXUAL DIFFERENTIATION DISORDERS AND HOT TOPICS IN ENDOCRINOLOGY, v.707, p.129-131, 2011-
dc.identifier.isbn978-1-4419-8001-4-
dc.identifier.issn0065-2598-
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/22581-
dc.language.isoeng-
dc.publisherSPRINGER-VERLAG BERLIN-
dc.relation.ispartofHormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology-
dc.relation.ispartofseriesAdvances in Experimental Medicine and Biology-
dc.rightsrestrictedAccess-
dc.subject.otherpremature ovarian failure-
dc.subject.othercxorf6-
dc.subject.otherhypospadias-
dc.titleMAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female-
dc.typearticle-
dc.rights.holderCopyright SPRINGER-VERLAG BERLIN-
dc.description.conferencedateJAN 15, 2010-
dc.description.conferencelocalMiami, FL-
dc.description.conferencename2nd World Conference on Hormonal and Genetic Basis of Sexual Differentiation-
dc.identifier.doi10.1007/978-1-4419-8002-1_28-
dc.identifier.pmid21691970-
dc.subject.wosEndocrinology & Metabolism-
dc.subject.wosGenetics & Heredity-
dc.type.categoryarticle; proceedings paper-
dc.type.versionpublishedVersion-
hcfmusp.author.externalBRANDAO, Maira Pontual:Univ Sao Paulo, Dept Endocrinol & Metab, BR-05403900 Sao Paulo, Brazil-
hcfmusp.author.externalFUKAMI, Maki:Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo, Japan-
hcfmusp.author.externalPEREIRA, Natalia P.:Univ Sao Paulo, Dept Endocrinol & Metab, BR-05403900 Sao Paulo, Brazil-
hcfmusp.author.externalOGATA, Tsutomu:Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo, Japan-
hcfmusp.description.beginpage129-
hcfmusp.description.endpage131-
hcfmusp.description.volume707-
hcfmusp.origemWOS-
hcfmusp.origem.idWOS:000321936100028-
hcfmusp.origem.id2-s2.0-79960734002-
hcfmusp.publisher.cityBERLIN-
hcfmusp.publisher.countryGERMANY-
hcfmusp.relation.referenceFukami M, 2008, J BIOL CHEM, V283, P5525-
hcfmusp.relation.referenceKalfa N, 2008, EUR J ENDOCRINOL, V159, P453, DOI 10.1530/EJE-08-0085-
hcfmusp.relation.referenceVegetti W, 1998, HUM REPROD, V13, P1796, DOI 10.1093/humrep/13.7.1796-
hcfmusp.relation.referenceMarozzi A, 2000, HUM GENET, V107, P304, DOI 10.1007/s004390000364-
hcfmusp.relation.referenceFukami M, 2006, NAT GENET, V38, P1369, DOI 10.1038/ng1900-
hcfmusp.relation.referenceCOULAM CB, 1983, FERTIL STERIL, V40, P693-
hcfmusp.relation.referenceMATTISON DR, 1984, AM J HUM GENET, V36, P1341-
dc.description.indexMEDLINE-
hcfmusp.citation.scopus7-
hcfmusp.scopus.lastupdate2022-09-30-
Appears in Collections:

Artigos e Materiais de Revistas Científicas - FM/MCM
Departamento de Clínica Médica - FM/MCM

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - LIM/42
LIM/42 - Laboratório de Hormônios e Genética Molecular


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