| pubmed-article:10727997 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10727997 | lifeskim:mentions | umls-concept:C0086582 | lld:lifeskim |
| pubmed-article:10727997 | lifeskim:mentions | umls-concept:C0546816 | lld:lifeskim |
| pubmed-article:10727997 | lifeskim:mentions | umls-concept:C0243072 | lld:lifeskim |
| pubmed-article:10727997 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:10727997 | pubmed:dateCreated | 2000-6-9 | lld:pubmed |
| pubmed-article:10727997 | pubmed:abstractText | The persistent müllerian duct syndrome is a rare, autosomal recessive disorder, characterized by the persistence of müllerian duct derivatives-uterus and fallopian tubes-in genetic males otherwise normally virilized. We have collected DNA from 69 families with this syndrome. In 45%, a mutation of the anti-müllerian hormone (AMH) gene was detected; 52% were homozygous. The level of circulating AMH was extremely low in the great majority of patients, even before puberty, when AMH levels are normally high. Single-strand conformation polymorphism (SSCP)-polymerase chain reaction (PCR) was a very effective screening method. In 39% of families, characterized by an AMH level normal for the age of the patient, a mutation of the type II receptor of AMH was detected by automatic sequencing, because SSCP-PCR was not very effective. Forty-eight percent of the mutations were homozygous. A 27-base-pair deletion in exon 10 was noted in 45% of the families. When this very common mutation is not taken into account, the proportion of recurrent mutations is 42% for the AMH gene and 33% for the AMH receptor type II gene. In 16% of families, no mutation of either the AMH or the AMH receptor gene was detectable; this group may correspond to mutations of unknown genes involved in AMH processing or in downstream AMH transduction. | lld:pubmed |
| pubmed-article:10727997 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10727997 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10727997 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10727997 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10727997 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10727997 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10727997 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:10727997 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10727997 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10727997 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:10727997 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:10727997 | pubmed:author | pubmed-author:JossoNN | lld:pubmed |
| pubmed-article:10727997 | pubmed:author | pubmed-author:PicardJ YJY | lld:pubmed |
| pubmed-article:10727997 | pubmed:author | pubmed-author:BelvilleCC | lld:pubmed |
| pubmed-article:10727997 | pubmed:copyrightInfo | Copyright 2000 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:10727997 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10727997 | pubmed:day | 29 | lld:pubmed |
| pubmed-article:10727997 | pubmed:volume | 89 | lld:pubmed |
| pubmed-article:10727997 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10727997 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10727997 | pubmed:pagination | 218-23 | lld:pubmed |
| pubmed-article:10727997 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:10727997 | pubmed:year | 1999 | lld:pubmed |
| pubmed-article:10727997 | pubmed:articleTitle | Persistence of Müllerian derivatives in males. | lld:pubmed |
| pubmed-article:10727997 | pubmed:affiliation | Unité de Recherches sur l'Endocrinologie du Développement (INSERM), Ecole Normale Supérieure, Département de Biologie, 1 rue Maurice Arnoux, 92120 Montrouge, France. josso@wotan.ens.fr | lld:pubmed |
| pubmed-article:10727997 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10727997 | pubmed:publicationType | Review | lld:pubmed |
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