相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome
Gerhard Binder et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)
Association of genetic variants in Estrogen receptor (ESR)1 and ESR2 with susceptibility to recurrent pregnancy loss in Tunisian women: A case control study
Wael Bahia et al.
GENE (2020)
Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity
Soumia Brakta et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)
Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty
Gabriela Guercio et al.
FRONTIERS IN ENDOCRINOLOGY (2020)
Does GPER Really Function as a G Protein-Coupled Estrogen Receptor in vivo?
Jing Luo et al.
FRONTIERS IN ENDOCRINOLOGY (2020)
Does GPER1 Play a Role in Sexual Dimorphism?
Janine L. Dovey et al.
FRONTIERS IN ENDOCRINOLOGY (2020)
Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function
Valiyaparambil Pavithran Praveen et al.
JOURNAL OF THE ENDOCRINE SOCIETY (2020)
Impact of estrogens in males and androgens in females
Stephen R. Hammes et al.
JOURNAL OF CLINICAL INVESTIGATION (2019)
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation
Fatma Dursun et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2019)
A critical role for estrogen signaling in penis development
Luke C. Govers et al.
FASEB JOURNAL (2019)
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development
Dorien Baetens et al.
GENETICS IN MEDICINE (2018)
The etiological effect of a new low-frequency ESR1 variant on Mild Cognitive Impairment and Alzheimer’s Disease: a population-based study
Xiaoling Li et al.
Aging-US (2018)
Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient
Mariana Costanzo et al.
HORMONE RESEARCH IN PAEDIATRICS (2018)
Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2)
Mariarosaria Lang-Muritano et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)
Aromatase deficiency in a male patient - Case report and review of the literature
Susanne U. Miedlich et al.
BONE (2016)
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression
Joel Smith et al.
HUMAN MOLECULAR GENETICS (2016)
Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization
Wen Jiao Zhu et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2016)
A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans
Sema Akcurin et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2016)
Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement
Marie-Anne Burckhardt et al.
GYNECOLOGICAL ENDOCRINOLOGY (2015)
Five New Cases of 46, XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect
Roxana Marino et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: Effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism
Zhike Chen et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2015)
ESR1 mutations-a mechanism for acquired endocrine resistance in breast cancer
Rinath Jeselsohn et al.
NATURE REVIEWS CLINICAL ONCOLOGY (2015)
Aromatase excess syndrome in a family with upstream deletion of CYP19A1
Daizou Shihara et al.
CLINICAL ENDOCRINOLOGY (2014)
Aromatase and estrogen receptor α deficiency
Serdar E. Bulun
FERTILITY AND STERILITY (2014)
Association of polymorphisms in estrogen receptors (ESR1 and ESR2) with male infertility: a meta-analysis and systematic review
Yu-Zheng Ge et al.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2014)
Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies
Nadia Bouchoucha et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2014)
Gynaecomastia-pathophysiology, diagnosis and treatment
Harmeet S. Narula et al.
NATURE REVIEWS ENDOCRINOLOGY (2014)
Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects
Maki Fukami et al.
PEDIATRICS INTERNATIONAL (2014)
A case of Aromatase deficiency due to a novel CYP19A1 mutation
Lucia Gagliardi et al.
BMC ENDOCRINE DISORDERS (2014)
Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis
Makio Shozu et al.
EXPERT REVIEW OF ENDOCRINOLOGY & METABOLISM (2014)
Estrogen receptor mutation in a girl with primary amenorrhea
M. Asadi et al.
CLINICAL GENETICS (2013)
Genomic Basis of Aromatase Excess Syndrome: Recombination- and Replication-Mediated Rearrangements Leading to CYP19A1 Overexpression
Maki Fukami et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
Delayed Puberty and Estrogen Resistance in a Woman with Estrogen Receptor α Variant
Samuel D. Quaynor et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Impact of Estrogen Replacement throughout Childhood on Growth, Pituitary-Gonadal Axis and Bone in a 46,XX Patient with CYP19A1 Deficiency
Marco Janner et al.
HORMONE RESEARCH IN PAEDIATRICS (2012)
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Walter L. Miller et al.
ENDOCRINE REVIEWS (2011)
Aromatase Excess Syndrome: Identification of Cryptic Duplications and Deletions Leading to Gain of Function of CYP19A1 and Assessment of Phenotypic Determinants
Maki Fukami et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Estrogen Negative Feedback on Gonadotropin Secretion: Evidence for a Direct Pituitary Effect in Women
N. D. Shaw et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Collaborative Meta-analysis: Associations of 150 Candidate Genes With Osteoporosis and Osteoporotic Fracture
J. Brent Richards et al.
ANNALS OF INTERNAL MEDICINE (2009)
Genetic and Clinical Spectrum of Aromatase Deficiency in Infancy, Childhood and Adolescence
A. Belgorosky et al.
HORMONE RESEARCH (2009)
Aromatase deficiency in men: a clinical perspective
Vincenzo Rochira et al.
NATURE REVIEWS ENDOCRINOLOGY (2009)
Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene
Masashi Demura et al.
HUMAN MOLECULAR GENETICS (2007)
A novel compound heterozygous mutation of the aromatase gene in an adult man: reinforced evidence on the relationship between congenital oestrogen deficiency, adiposity and the metabolic syndrome
Laura Maffei et al.
CLINICAL ENDOCRINOLOGY (2007)
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans
Lin Lin et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Association of cryptorchidism with a specific haplotype of the estrogen receptor α gene:: Implication for the susceptibility to estrogenic environmental endocrine disruptors
R Yoshida et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome
A Tiulpakov et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Dominant transmission of prepubertal gynecomastia due to serum estrone excess: Hormonal, biochemical, and genetic analysis in a large kindred
G Binder et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Estrogen receptor genotypes and haplotypes associated with breast cancer risk
B Gold et al.
CANCER RESEARCH (2004)
Association between estrogen receptor α gene variation and cardiovascular disease
AM Shearman et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2003)
Familial hyperestrogenism in both sexes: Clinical, hormonal, and molecular studies of two siblings
RM Martin et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene
M Shozu et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
分享论文
