%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D8%B9%D8%AF%D9%85_%D8%A7%D9%84%D8%AD%D8%B3%D8%A7%D8%B3%D9%8A%D8%A9_%D8%A7%D9%84%D8%AC%D8%B2%D8%A6%D9%8A%D8%A9_%D9%84%D9%84%D8%A3%D9%86%D8%AF%D8%B1%D9%88%D8%AC%D9%8A%D9%86Partial_androgen_insensitivity_syndromeS%C3%ADndrome_de_insensibilidad_parcial_a_los_andr%C3%B3genos%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC_%D0%A0%D0%B5%D0%B9%D1%84%D0%B5%D0%BD%D1%88%D1%82%D0%B5%D0%B9%D0%BD%D0%B0Q2037224
about
Phenotypic diversity in siblings with partial androgen insensitivity syndromeCorrelation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndromeIsolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysisDiagnosis of the partial androgen insensitivity syndrome during infancyPhenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndromeSevere forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family.Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndromeMutation of the androgen receptor (R840S) in an Egyptian patient with partial androgen insensitivity syndrome: review of the literature on the clinical expression of different R840 substitutions.Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia.Partial androgen insensitivity syndrome: a diagnostic and therapeutic dilemma.Surface rendering of external genitalia of a fetus at the 32nd week of gestation affected by partial androgen insensitivity syndrome.A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translationThe Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor GeneA Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty.Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review.A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation.Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene?Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.Increased peripheral aromatase activity in prepubertal children with partial androgen insensitivity syndrome.A G577R mutation in the human AR P box results in selective decreases in DNA binding and in partial androgen insensitivity syndrome.Response to local dihydrotestosterone treatment in a patient with partial androgen-insensitivity syndrome due to a novel mutation in the androgen receptor gene.Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor.'Idiopathic' partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals?Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation.Medical genetics: advances in brief: Phenotypic diversity in siblings with partial androgen insensitivity syndrome.Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case.Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture.A new mutation of the androgen receptor, P817A, causing partial androgen insensitivity syndrome: in vitro and structural analysis.Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.A novel mutation inducing partial androgen-insensitivity syndrome with phenotypic diversity.Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene.Creation of a Neovagina by Laparoscopic Modified Davydov Vaginoplasty in Patients with Partial Androgen Insensitivity Syndrome.Partial androgen insensitivity syndrome.
P921
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P921
name
Partial androgen insensitivity syndrome
@en
Partielle Androgenresistenz
@de
Síndrome de insensibilidad parcial a los andrógenos
@es
androgenoekiko sorgortasun partzialaren sindrome
@eu
syndrome d'insensibilité partielle aux androgènes
@fr
Синдром Рейфенштейна
@ru
متلازمة نقص الإحساس الجزئي للأندروجين
@ar
type
label
Partial androgen insensitivity syndrome
@en
Partielle Androgenresistenz
@de
Síndrome de insensibilidad parcial a los andrógenos
@es
androgenoekiko sorgortasun partzialaren sindrome
@eu
syndrome d'insensibilité partielle aux androgènes
@fr
Синдром Рейфенштейна
@ru
متلازمة نقص الإحساس الجزئي للأندروجين
@ar
altLabel
Reifenstein-Syndrom
@de
prefLabel
Partial androgen insensitivity syndrome
@en
Partielle Androgenresistenz
@de
Síndrome de insensibilidad parcial a los andrógenos
@es
androgenoekiko sorgortasun partzialaren sindrome
@eu
syndrome d'insensibilité partielle aux androgènes
@fr
Синдром Рейфенштейна
@ru
متلازمة نقص الإحساس الجزئي للأندروجين
@ar
P5806
P6366
P1550
P1995
P3417
Partial-Androgen-Insensitivity-Syndrome
P493
P5806
122811000119101
P6366
2779123372