MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female

Página do item simplificado
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.description.conferencedateJAN 15, 2010
dc.description.conferencelocalMiami, FL
dc.description.conferencename2nd World Conference on Hormonal and Genetic Basis of Sexual Differentiation
dc.description.indexMEDLINE
dc.identifier.citationHORMONAL AND GENETIC BASIS OF SEXUAL DIFFERENTIATION DISORDERS AND HOT TOPICS IN ENDOCRINOLOGY, v.707, p.129-131, 2011
dc.identifier.doi10.1007/978-1-4419-8002-1_28
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.rights.holderCopyright SPRINGER-VERLAG BERLIN
dc.subject.otherpremature ovarian failure
dc.subject.othercxorf6
dc.subject.otherhypospadias
dc.subject.wosEndocrinology & Metabolism
dc.subject.wosGenetics & Heredity
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.type.categoryarticle; proceedings paper
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryJapão
hcfmusp.affiliation.countryisojp
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.citation.scopus8
hcfmusp.contributor.author-fmusphcELAINE MARIA FRADE COSTA
hcfmusp.contributor.author-fmusphcMARIZA AUGUSTA GERDULO DOS SANTOS
hcfmusp.contributor.author-fmusphcSORAHIA DOMENICE
hcfmusp.contributor.author-fmusphcBERENICE BILHARINHO DE MENDONCA
hcfmusp.description.beginpage129
hcfmusp.description.endpage131
hcfmusp.description.volume707
hcfmusp.origemWOS
hcfmusp.origem.pubmed21691970
hcfmusp.origem.scopus2-s2.0-79960734002
hcfmusp.origem.wosWOS:000321936100028
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
hcfmusp.scopus.lastupdate2024-04-12
relation.isAuthorOfPublicationc6928e0a-cd60-4e37-8aec-ccef17a1daa9
relation.isAuthorOfPublicationf6a4c6e4-11a6-4467-a7b4-08ff57247fcc
relation.isAuthorOfPublication39dda9d1-49dc-46d1-8e72-f90305de46a3
relation.isAuthorOfPublicationf9dd8bf5-173e-4843-93cd-66012ee0ef1b
relation.isAuthorOfPublication.latestForDiscoveryf9dd8bf5-173e-4843-93cd-66012ee0ef1b
Arquivos
Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/42