Androgen insensitivity syndrome (Q26850843)

androgen insensitivity syndrome

main subject

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1

Ieuan A Hughes

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John D Davies

2

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Trevor I Bunch

3

1 reference

Vickie Pasterski

4

1 reference

Kiki Mastroyannopoulou

5

1 reference

Jane MacDougall

6

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language of work or name

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20 October 2012

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380

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page(s)

1419-28

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issue

9851

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Genetic Syndromes of Severe Insulin Resistance

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Mutations along the hypothalamic-pituitary-gonadal axis affecting male reproduction

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

The syndrome of testicular feminization in male pseudohermaphrodites

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Genotype versus phenotype in families with androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Inguinal hernia in female infants: a cue to check the sex chromosomes?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS).

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Detection of Y-chromosome in gonadal tumours using fluorescence in situ hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Puberty in subjects with complete androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Hundreds of variants clustered in genomic loci and biological pathways affect human height

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

The role of androgens in fetal growth: observational study in two genetic models of disordered androgen signalling

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

1 reference

7 January 2021

Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Time course of the serum gonadotropin surge, inhibins, and anti-Müllerian hormone in normal newborn males during the first month of life

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Insulin-like factor 3 levels in cord blood and serum from children: effects of age, postnatal hypothalamic-pituitary-gonadal axis activation, and cryptorchidism.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

The concordance between serum anti-Mullerian hormone and testosterone concentrations depends on duration of hCG stimulation in boys undergoing investigation of gonadal function

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Changes in anti-Müllerian hormone (AMH) throughout the life span: a population-based study of 1027 healthy males from birth (cord blood) to the age of 69 years

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Lack of androgen receptor expression in Sertoli cells accounts for the absence of anti-Mullerian hormone repression during early human testis development

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Swyer syndrome: presentation and outcomes

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Mayer-Rokitansky-Küster-Hauser anomaly and its associated malformations.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Early amniocentesis versus chorionic villus sampling for fetal karyotyping

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Androgen receptor roles in spermatogenesis and fertility: lessons from testicular cell-specific androgen receptor knockout mice

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Bulbar and spinal muscular atrophy (Kennedy's disease): a review

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Androgen receptor gene CAG repeat polymorphism in longitudinal height and body composition in children and adolescents.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Studies of the androgen receptor in dispersed fibroblasts: investigation of patients with androgen insensitivity.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Dissecting phenotypic variation among AIS patients

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Haldane was right: de novo mutations in androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Phenotypic diversity in siblings with partial androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

A surface on the androgen receptor that allosterically regulates coactivator binding

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Participation of critical residues from the extreme C-terminal end of the human androgen receptor in the ligand binding function

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Complete androgen insensitivity syndrome characterized by increased concentration of a normal androgen receptor in genital skin fibroblasts.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

The basis for half-site specificity explored through a non-cognate steroid receptor-DNA complex

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. German Collaborative Intersex Study Group.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Mutational Analysis of Hungarian Patients with Androgen Insensitivity Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Holistic management of DSD.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Update on disorders of sex development

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Consensus statement on management of intersex disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Evaluation of terminology used to describe disorders of sex development

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

The quiet revolution: Disorders of sex development

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Unexpected finding during inguinal hernia repair in a girl

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Testicular development in the complete androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Tumor risk in disorders of sex development (DSD).

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

A physiological mode of puberty induction in hypogonadal girls by low dose transdermal 17 beta-oestradiol

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Bone health in disorders of sex differentiation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

The Androgen Insensitivity Syndrome (Testicular Feminization)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Gonadal tumours and DSD.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

From gonocytes to testicular cancer: the role of impaired gonadal development

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Dissecting the molecular pathways of (testicular) germ cell tumour pathogenesis; from initiation to treatment-resistance

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Complete androgen insensitivity: the role of the surgeon

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Androgen-dependent measurements of female genitalia in women with complete androgen insensitivity syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Testicular feminization: the androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Care of women with XY karyotype: a clinical practice guideline

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Adolescent girls with disorders of sex development: A needs analysis of transitional care.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Androgen insensitivity syndrome (AIS): emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Service users' experiences of obtaining and giving information about disorders of sex development

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Helping a child to understand her own testicular feminisation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Psychological outcomes and gender-related development in complete androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Psychosocial and psychosexual aspects of disorders of sex development

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Sexual function in women with complete androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Early management and gender assignment in disorders of sexual differentiation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

The role of a clinical score in the assessment of ambiguous genitalia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Functional and structural analysis of R607Q and R608K androgen receptor substitutions associated with male breast cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

A 19 year old with complete androgen insensitivity syndrome and juvenile fibroadenoma of the breast

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Impaired sexual activity in male adults with partial androgen insensitivity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Early amniocentesis versus chorionic villus sampling for fetal karyotyping

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021

Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2960071-3

7 January 2021