Genotype versus phenotype in families with androgen insensitivity syndrome.

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Journal of Clinical Endocrinology and Metabolism

• Publication date

  2001-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1210/JCEM.86.9.7825PMID 11549642
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Molecular genetics of human androgen insensitivity

  2005cited by this paper
• Online Mendelian Inheritance in Man 'OMIM'.

  2003cited by this paper
• Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.

  2001cited by this paper
• The Molecular Basis of Androgen Insensitivity

  2001influential reference
• Disorders of sexual differentiation

  1999cited by this paper
• 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.

  1999cited by this paper
• Haldane was right: de novo mutations in androgen insensitivity syndrome.

  1998cited by this paper
• Inherited and de novo androgen receptor gene mutations: investigation of single-case families.

  1998cited by this paper
• The androgen receptor: Physiology and pathophysiology

  1998cited by this paper
• Puberty : ontogeny, neuroendocrinology, physiology, and disorders

  1998cited by this paper
• Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.

  1997cited by this paper
• Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome.

  1997cited by this paper
• Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation.

  1997cited by this paper
• Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.

  1996cited by this paper
• 17beta-Hydroxysteroid dehydrogenase 3 deficiency.

  1996cited by this paper
• Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene

  1996influential reference
• 17β-Hydroxysteroid dehydrogenase 3 deficiency

  1996cited by this paper
• Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

  1996influential reference
• Molecular basis of androgen insensitivity.

  1996cited by this paper
• Androgen receptor mutations.

  1995cited by this paper
• Androgen receptor defects: historical, clinical, and molecular perspectives.

  1995cited by this paper
• Changes in the abundance of androgen receptor isotypes: effects of ligand treatment, glutamine-stretch variation, and mutation of putative phosphorylation sites.

  1994influential reference
• Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch site.

  1994cited by this paper
• A Practical Approach to the Detection of Androgen Receptor Gene Mutations and Pedigree Analysis in Families with X-Linked Androgen Insensitivity

  1994cited by this paper
• Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.

  1994influential reference
• Immunohistochemical detection of the androgen receptor with monoclonal antibody F39.4 in routinely processed, paraffin-embedded human tissues after microwave pre-treatment.

  1994cited by this paper
• Trinucleotide (GGN) repeat polymorphism in the human androgen receptor (AR) gene.

  1993cited by this paper
• Threonine on amino acid position 868 in the human androgen receptor is essential for androgen binding specificity and functional activity.

  1993cited by this paper
• Testicular feminization syndrome and associated gonadal tumors in Denmark

  1992cited by this paper
• Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

  1992influential reference
• Domains of the human androgen receptor involved in steroid binding, transcriptional activation, and subcellular localization.

  1991cited by this paper
• A mutation in the ligand binding domain of the androgen receptor of human LNCaP cells affects steroid binding characteristics and response to anti-androgens.

  1990cited by this paper
• The Developing Human: Clinically Oriented Embryology

  1989cited by this paper
• A simple salting out procedure for extracting DNA from human nucleated cells.

  1988cited by this paper
• Williams Textbook of endocrinology

  1985cited by this paper
• Phenotypic variation in a family with partial androgen insensitivity syndrome.

  1980cited by this paper
• The Developing Human: Clinically Oriented Embryology

  1973cited by this paper
• The Journal of Clinical Endocrinology & Metabolism Printed in U.S.A. Copyright © 2000 by The Endocrine Society Significance of Mutations in the Androgen Receptor Gene in Males with Idiopathic Infertility*

  year unknowncited by this paper

• BƯỚC ĐẦU ĐÁNH GIÁ KẾT QUẢ CÁC BIỆN PHÁP CAN THIỆP ĐẾN TIẾN TRIỂN BỆNH THẬN MẠN GIAI ĐOẠN III TẠI THÀNH PHỐ CẦN THƠ

  2026cites this paper
• Spatial ability, episodic memory, and emotion recognition in women with congenital adrenal hyperplasia or complete androgen insensitivity syndrome.

  2025cites this paper
• Exon 1 deletion of the androgen receptor gene causing complete androgen insensitivity syndrome in a newborn: a case report

  2025cites this paper
• 46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya

  2025cites this paper
• A case of testicular leiomyoma in androgen insensitivity syndrome: exploring malignancy controversies

  2025cites this paper
• An exposition on complete androgen insensitivity syndrome and a case report

  2025cites this paper
• The Sexual Health and Well-being of Individuals with Complete Androgen Insensitivity Syndrome (CAIS).

  2025cites this paper
• Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature

  2025cites this paper
• Gendered interests and behavior in women with congenital adrenal hyperplasia or complete androgen insensitivity syndrome.

  2025cites this paper
• Androgen insensitivity and the evolving genetic heterogeneity.

  2025cites this paper
• HSD17B1 Compensates for HSD17B3 Deficiency in Fetal Mouse Testis but Not in Adults.

  2024cites this paper
• A case of complete androgen insensitivity syndrome combined with bilateral inguinal hernia

  2024cites this paper
• Detection of Molecular Variations at Androgen Receptor Gene in 46,XY Differences in Sex Development Cases

  2024cites this paper
• A case of mild partial androgen insensitivity syndrome in a juvenile boy

  2024cites this paper
• Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

  2024cites this paper
• Mehr Sicherheit im Umgang mit Varianten der Geschlechtsentwicklung

  2024cites this paper
• Genomic technologies and the diagnosis of 46, XY differences of sex development

  2024cites this paper
• Synthetic Studies of the Mutant Proinsulin Syndrome Demonstrate Correlation Between Folding Efficiency and Age of Diabetes Onset

  2024cites this paper
• A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism

  2023cites this paper
• Molecular genetics and general management of androgen insensitivity syndrome.

  2023cites this paper
• Progesterone from ovulatory menstrual cycles is an important cause of breast cancer

  2023cites this paper
• Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes

  2023cites this paper
• Androgen insensitivity syndrome: a review

  2023cites this paper
• Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.

  2023cites this paper
• Small-Molecule Inhibition of Androgen Receptor Dimerization as a Strategy against Prostate Cancer

  2023cites this paper
• Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.

  2023cites this paper
• Urethral reconstruction using amniotic membrane allograft in hereditary androgen insensitivity syndrome: a case series

  2023cites this paper
• Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene: Review of the Literature and Case Report of a Patient with Mosaic c.-547C>T Variant

  2023cites this paper
• Síndrome de insensibilidad completa a andrógenos

  2022cites this paper
• Identification of the Rare Ala871Glu Mutation in the Androgen Receptor Gene Leading to Complete Androgen Insensitivity Syndrome in an Adolescent Girl with Primary Amenorrhea

  2022cites this paper
• Characterization of a novel androgen receptor gene variant identified in an Iranian family with complete androgen insensitivity syndrome (CAIS): a molecular dynamics simulation study

  2022cites this paper
• Relationship between dental caries and body mass index in children

  2022cites this paper
• Exploring new frontiers in prostate cancer research: Report from the 2022 Coffey−Holden prostate cancer academy meeting

  2022cites this paper
• Peptide Model of the Mutant Proinsulin Syndrome. II. Nascent Structure and Biological Implications

  2022cites this paper
• Cohort profile: pathways to care among people with disorders of sex development (DSD)

  2022cites this paper
• Uterine Factor Infertility, a Systematic Review

  2022cites this paper
• case report

  2022cites this paper
• Allosteric interactions prime androgen receptor dimerization and activation

  2022cites this paper
• Whole exome sequencing reveals copy number variants in individuals with disorders of sex development.

  2022cites this paper
• Complete Androgen Insensitivity Syndrome: A Case Report and Literature Review

  2022cites this paper
• MRI Findings in Androgen Insensitivity: Case series

  2021cites this paper
• Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls

  2021influential citation
• Clinical, Hormonal, Genetic, and Molecular Characteristics in Androgen Insensitivity Syndrome in an Asian Indian Cohort from a Single Centre in Western India

  2021cites this paper
• Delayed pubarche

  2021cites this paper
• Approach to the Newborn with Disorders of Sex Development

  2021cites this paper
• The role of steroid hormones in the sexual differentiation of the human brain

  2021cites this paper
• Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report

  2021cites this paper
• The androgen receptor depends on ligand‐binding domain dimerization for transcriptional activation

  2021influential citation
• ANDROGEN INSENSITIVITY SYNDROME – A CASE REPORT

  2021cites this paper
• Rare case of two siblings with complete androgen insensitivity syndrome

  2021cites this paper
• Androgen Receptors in the Pathology of Disease

  2021cites this paper
• CAIS Syndrome and Eating and Weight Disorders

  2021cites this paper
• Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients

  2021cites this paper
• Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome

  2021cites this paper
• Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report

  2021cites this paper
• Primäre/sekundäre Amenorrhö – wann und wie abklären?

  2021cites this paper
• Magnetic Resonance Imagery Findings in Androgen Insensitivity

  2021cites this paper
• Complete androgen insensitivity syndrome

  2020cites this paper
• Six novelMutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome.

  2020cites this paper
• Disorders of sex development

  2020cites this paper
• A Case Report Based On Complete Androgen Insensitivity Syndrome

  2020cites this paper
• Disorders of Sex Development

  2020cites this paper
• Adipose tissue developmental growth constraints uncouple fat distribution from glucose metabolism in two mouse models of obesity

  2020cites this paper
• Complete Androgen Insensitivity Syndrome Presenting as Inguinal Hernia—a Diagnostic Dilemma

  2020cites this paper
• Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function.

  2020cites this paper
• Efficacy of intelligent diagnosis with a dynamic uncertain causality graph model for rare disorders of sex development

  2020cites this paper
• A hemizygous mutation in the androgen receptor gene causes different phenotypes of androgen insensitivity syndrome in two siblings by disrupting the nuclear translocation

  2020cites this paper
• Nonneoplastic Diseases of the Testis

  2020cites this paper
• Ultrasonography for inguinal hernia led to the diagnosis of complete androgen insensitivity syndrome

  2020cites this paper
• Morris Syndrome

  2019cites this paper
• A shared decision-making tool for individuals living with complete androgen insensitivity syndrome.

  2019cites this paper
• Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the disease in a family with mutation c.2495G>T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects.

  2019cites this paper
• Two cases of gonad retention in adolescent patients with complete androgen insensitivity syndrome (CAIS)

  2019cites this paper
• Androgen Insensitivity Syndrome (AIS): Complete AIS (CAIS)

  2019cites this paper
• Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: Clinical manifestations, imaging findings and molecular genetics

  2019cites this paper
• Swyer Syndrome: Challenging Diagnosis and Literature Review

  2019cites this paper
• Ligand induced dissociation of the AR homodimer precedes AR monomer translocation to the nucleus

  2019cites this paper
• Puberty

  2019cites this paper
• The Sexual Differentiation of the Human Brain: Role of Sex Hormones Versus Sex Chromosomes.

  2019cites this paper
• Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

  2019cites this paper
• Zum Problem der Häufigkeitsbestimmung von Intergeschlechtlichkeit und Varianten der Geschlechtsentwicklung: Eine Übersichtsarbeit

  2019cites this paper
• Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and Their Molecular Characteristics

  2019cites this paper
• Distinct clinical picture of Cushing's syndrome in a patient with Morris' syndrome - first literature report.

  2019cites this paper
• The evolving role of genetic tests in reproductive medicine

  2019cites this paper
• Morris Syndrome Case Report

  2019cites this paper
• A Management Protocol for Gonad Preservation in Patients with Androgen Insensitivity Syndrome.

  2019cites this paper
• Amenorrhea: A Systematic Approach to Diagnosis and Management.

  2019cites this paper
• Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

  2018cites this paper
• Complete androgen insensitivity syndrome caused by c.1769‐1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene

  2018cites this paper
• ANDROGEN INSENSITIVITY SYNDROME AMONG COUSIN SISTERS- A RARE ENTITY

  2018cites this paper
• Functional and Structural Study of the Amino Acid Substitution in a Novel Familial Androgen Receptor Mutation (W752G) Responsible for Complete Androgen Insensitivity Syndrome

  2018influential citation
• Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

  2018cites this paper
• Androgen insensitivity syndrome.

  2018cites this paper
• The evaluation and management of the boy with DSD.

  2018cites this paper
• Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis.

  2018cites this paper
• Psychological aspects in differences/disorders of sex development

  2018influential citation
• Androgen insensitivity syndrome: An experience of genetic analysis of a family from a tertiary center – Saudi Arabia

  2018cites this paper
• Androgen Insensitivity

  2018cites this paper
• An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development

  2017influential citation
• 20 Primary and Secondary Amenorrhea

  2017influential citation