| scholarly article | Q13442814 |
| P356 | DOI | 10.1111/CGE.12921 |
| P698 | PubMed publication ID | 27861765 |
| P50 | author | Marco Bonomi | Q42775119 |
| Ilaria Ferrari | Q55704500 | ||
| Raffaella Rossetti | Q57420673 | ||
| P2093 | author name string | L Persani | |
| P2860 | cites work | Premature ovarian failure | Q21203021 |
| Transcription factor FIGLA is mutated in patients with premature ovarian failure | Q21710713 | ||
| The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome | Q24290819 | ||
| Identification of novel mutations in FOXL2 associated with premature ovarian failure | Q24302455 | ||
| Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure | Q24309024 | ||
| Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure | Q24309202 | ||
| An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains | Q24313206 | ||
| Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) | Q24318956 | ||
| XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription | Q24339012 | ||
| Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene | Q24533489 | ||
| Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure | Q24546729 | ||
| Posttranslational processing of mouse and human BMP-15: potential implication in the determination of ovulation quota | Q24555725 | ||
| Roles of Werner syndrome protein in protection of genome integrity | Q24643050 | ||
| Clinical practice. Primary ovarian insufficiency | Q24653014 | ||
| FoxL2 and Smad3 coordinately regulate follistatin gene transcription | Q24655444 | ||
| Mutations in NR5A1 associated with ovarian insufficiency | Q24655709 | ||
| NOBOX homeobox mutation causes premature ovarian failure | Q24677575 | ||
| Ovarian antibodies as detected by indirect immunofluorescence are unreliable in the diagnosis of autoimmune premature ovarian failure: a controlled evaluation | Q24793300 | ||
| The timing of the age at which natural menopause occurs | Q26822580 | ||
| CSB-PGBD3 Mutations Cause Premature Ovarian Failure | Q28115810 | ||
| Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases | Q28116288 | ||
| Positional cloning of the APECED gene | Q28116470 | ||
| Projection of an immunological self shadow within the thymus by the aire protein | Q28207164 | ||
| Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure | Q28236974 | ||
| Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability | Q28252485 | ||
| MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability | Q28253387 | ||
| Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure | Q37294816 | ||
| Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology | Q37307656 | ||
| Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF). | Q37331637 | ||
| Primary Ovarian Insufficiency: X chromosome defects and autoimmunity | Q37433181 | ||
| Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome | Q37495369 | ||
| Inhibin and premature ovarian failure. | Q37596762 | ||
| Gonadal function in male and female patients with classic galactosemia. | Q37606145 | ||
| Genes involved in human premature ovarian failure. | Q37776380 | ||
| Genetic defects of ovarian TGF-β-like factors and premature ovarian failure | Q37836267 | ||
| The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology | Q37901811 | ||
| An update on primary ovarian insufficiency | Q38038997 | ||
| Ovarian stimulation in cancer patients | Q38103327 | ||
| Bloom syndrome | Q38193899 | ||
| Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad | Q38313959 | ||
| NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency | Q38916307 | ||
| Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations. | Q39004927 | ||
| Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome | Q39961180 | ||
| Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure | Q40066618 | ||
| Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. | Q40336505 | ||
| Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features | Q40550174 | ||
| GAPO syndrome: a new syndromic cause of premature ovarian insufficiency. | Q40610460 | ||
| Five years' experience using oocyte vitrification to preserve fertility for medical and nonmedical indications | Q41604726 | ||
| Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. | Q41752195 | ||
| Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene | Q43423067 | ||
| Highly prolific Booroola sheep have a mutation in the intracellular kinase domain of bone morphogenetic protein IB receptor (ALK-6) that is expressed in both oocytes and granulosa cells. | Q43547989 | ||
| Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age. | Q43660966 | ||
| MicroRNA-22-3p is down-regulated in the plasma of Han Chinese patients with premature ovarian failure. | Q44302420 | ||
| Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2. | Q44319525 | ||
| Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function | Q44357532 | ||
| Successful outcome of pregnancy complicated by Werner's syndrome | Q44549906 | ||
| Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. | Q44757080 | ||
| Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG)n triplets in exon 1. | Q44774334 | ||
| Number of ovarian follicles in human fetuses with the 45,X karyotype. | Q44831918 | ||
| Evidence of early ovarian aging in fragile X premutation carriers | Q45050634 | ||
| Selective theca cell dysfunction in autoimmune oophoritis results in multifollicular development, decreased estradiol, and elevated inhibin B levels | Q45261366 | ||
| Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure. | Q45728755 | ||
| Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. | Q45931023 | ||
| Mutations in HFM1 in recessive primary ovarian insufficiency | Q46334284 | ||
| Copy number variants on the X chromosome in women with primary ovarian insufficiency | Q46646614 | ||
| Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure | Q47386055 | ||
| Mutational analysis of the FIGLA gene in women with idiopathic premature ovarian failure | Q47580970 | ||
| The effect of genotype on the natural history of eIF2B-related leukodystrophies | Q47621860 | ||
| Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure | Q47810869 | ||
| A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure | Q48016212 | ||
| The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations | Q48462145 | ||
| Examination of reproductive aging milestones among women who carry the FMR1 premutation | Q48788754 | ||
| The ovarioleukodystrophy | Q49013494 | ||
| Infertility caused by retardation of follicular development in mice with oocyte-specific expression of Foxo3a. | Q50641713 | ||
| The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency. | Q50644642 | ||
| SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction. | Q50656030 | ||
| Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI). | Q50992286 | ||
| Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. | Q51042953 | ||
| Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency. | Q51529799 | ||
| Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. | Q51820070 | ||
| Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study. | Q51893198 | ||
| Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. | Q51923151 | ||
| FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. | Q51927334 | ||
| Immunohistochemical FMRP studies in a full mutated female fetus. | Q51944467 | ||
| Autoimmune oophoritis as a mechanism of follicular dysfunction in women with 46,XX spontaneous premature ovarian failure. | Q52037310 | ||
| Long‐term prognosis in galactosaemia: Results of a survey of 350 cases | Q52243798 | ||
| A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. | Q52514982 | ||
| Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. | Q52951607 | ||
| Premature ovarian failure in patients with autoimmune Addison's disease: clinical, genetic, and immunological evaluation. | Q53240364 | ||
| Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. | Q53612457 | ||
| Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure. | Q55042456 | ||
| Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. | Q55057090 | ||
| Turner's Syndrome | Q56083756 | ||
| Premature ovarian failure | Q56565614 | ||
| Mothers and daughters menopausal ages: is there a link? | Q56888509 | ||
| Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients | Q56946105 | ||
| A Deletion Mutation in GDF9 in Sisters with Spontaneous DZ Twins | Q57268919 | ||
| Heritability of Age at Natural Menopause in the Framingham Heart Study | Q57747598 | ||
| Screening for FOXL2 gene mutations in women with premature ovarian failure: an Indian experience | Q28258213 | ||
| Novel variants in growth differentiation factor 9 in mothers of dizygotic twins | Q28262009 | ||
| Genetic investigation of four meiotic genes in women with premature ovarian failure | Q28263196 | ||
| Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure | Q28267431 | ||
| Mutations in the Gs alpha gene causing hormone resistance | Q28278301 | ||
| Cell-cycle checkpoints and cancer | Q28293996 | ||
| Missense mutations in the BMP15 gene are associated with ovarian failure | Q28299705 | ||
| The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance | Q28508707 | ||
| Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development | Q28588131 | ||
| Suppression of ovarian follicle activation in mice by the transcription factor Foxo3a | Q28592736 | ||
| Characterization of NOBOX DNA binding specificity and its regulation of Gdf9 and Pou5f1 promoters | Q28593658 | ||
| Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency | Q29147461 | ||
| The variability of female reproductive ageing | Q29397887 | ||
| Mutant Cohesin in Premature Ovarian Failure | Q29399144 | ||
| A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis | Q29465794 | ||
| Successful pregnancy in a woman with Bloom syndrome | Q30307654 | ||
| Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. | Q30358065 | ||
| Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. | Q30387625 | ||
| The autoimmune regulator prevents premature reproductive senescence in female mice | Q30421521 | ||
| Oocyte-specific overexpression of mouse bone morphogenetic protein-15 leads to accelerated folliculogenesis and an early onset of acyclicity in transgenic mice | Q30439521 | ||
| Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss | Q30745203 | ||
| Endocrine abnormalities in patients with Fanconi anemia | Q31108898 | ||
| Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes. | Q32060419 | ||
| X-linked premature ovarian failure: a complex disease | Q33241665 | ||
| Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders | Q33357146 | ||
| FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells | Q33537665 | ||
| Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure | Q33570277 | ||
| Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene | Q33688845 | ||
| Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure | Q33787119 | ||
| Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform | Q33888318 | ||
| Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. | Q33897004 | ||
| Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. | Q34146206 | ||
| Ovotoxic effects of galactose involve attenuation of follicle-stimulating hormone bioactivity and up-regulation of granulosa cell p53 expression | Q34154635 | ||
| Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations | Q34189047 | ||
| Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways | Q34248904 | ||
| Alpha-inhibin is a tumour-suppressor gene with gonadal specificity in mice | Q34263387 | ||
| Differentially expressed plasma microRNAs in premature ovarian failure patients and the potential regulatory function of mir-23a in granulosa cell apoptosis | Q34288368 | ||
| Spontaneous pregnancy and birth of a normal female from a woman with Turner syndrome and elevated gonadotropins. | Q34400353 | ||
| Absence of mouse REC8 cohesin promotes synapsis of sister chromatids in meiosis | Q34423782 | ||
| Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure | Q34425760 | ||
| The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders. | Q34427147 | ||
| Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency | Q34430861 | ||
| The transcription factor FOXL2 mobilizes estrogen signaling to maintain the identity of ovarian granulosa cells. | Q34446269 | ||
| A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing | Q34515501 | ||
| FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells | Q34534140 | ||
| The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2. | Q34539732 | ||
| Genetics of primary ovarian insufficiency: a review | Q34603972 | ||
| Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure | Q34708642 | ||
| Turner syndrome and haploinsufficiency | Q34750146 | ||
| Genes and translocations involved in POF. | Q34811120 | ||
| Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure | Q34859528 | ||
| Regulation of ovulation rate in mammals: contribution of sheep genetic models | Q34881054 | ||
| Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems | Q34986097 | ||
| Positive selection in bone morphogenetic protein 15 targets a natural mutation associated with primary ovarian insufficiency in human | Q35023540 | ||
| Premature ovarian failure in nobox-deficient mice is caused by defects in somatic cell invasion and germ cell cyst breakdown | Q35181950 | ||
| GDF9 is transiently expressed in oocytes before follicle formation in the human fetal ovary and is regulated by a novel NOBOX transcript | Q35196204 | ||
| A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. | Q35448192 | ||
| The bone morphogenetic protein system in mammalian reproduction | Q35652692 | ||
| miR-23a and miR-27a promote human granulosa cell apoptosis by targeting SMAD5. | Q35785983 | ||
| Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Booroola Mérino ewes | Q35864520 | ||
| A genome-wide association study of early menopause and the combined impact of identified variants | Q36682471 | ||
| Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome | Q36742557 | ||
| Fertility and impact of pregnancies on the mother and child in classic galactosemia | Q37141311 | ||
| Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases | Q37154012 | ||
| BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein | Q37179550 | ||
| Analysis of LHX8 mutation in premature ovarian failure | Q37188503 | ||
| FOXL2 mutations and genomic rearrangements in BPES. | Q37252063 | ||
| Lim homeobox gene, lhx8, is essential for mouse oocyte differentiation and survival | Q37261499 | ||
| P433 | issue | 2 | |
| P304 | page(s) | 183-198 | |
| P577 | publication date | 2016-12-12 | |
| P1433 | published in | Clinical Genetics | Q5133760 |
| P1476 | title | Genetics of primary ovarian insufficiency | |
| P478 | volume | 91 |
| Q89146300 | "Evaluation of four genes associated with primary ovarian insufficiency in a cohort of Mexican women" |
| Q98729612 | A missense in HSF2BP causing Primary Ovarian Insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1 |
| Q50079517 | A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure. |
| Q64113107 | A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks |
| Q91495246 | ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure |
| Q61448080 | Acylated Ghrelin Supports the Ovarian Transcriptome and Follicles in the Mouse: Implications for Fertility |
| Q60913117 | Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies |
| Q92496123 | Dynamic and regulated TAF gene expression during mouse embryonic germ cell development |
| Q58788037 | Environmental toxicant induced epigenetic transgenerational inheritance of ovarian pathology and granulosa cell epigenome and transcriptome alterations: ancestral origins of polycystic ovarian syndrome and primary ovarian insufiency |
| Q62949815 | Essential Role of BRCA2 in Ovarian Development and Function |
| Q41684295 | Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations |
| Q92763644 | Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency |
| Q64229148 | High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function |
| Q47606171 | Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing |
| Q91708266 | In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency |
| Q61807657 | Inflamm-Aging: A New Mechanism Affecting Premature Ovarian Insufficiency |
| Q88070917 | Molecular Aspects and Clinical Relevance of GDF9 and BMP15 in Ovarian Function |
| Q52642650 | Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. |
| Q58060865 | Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder |
| Q47632492 | Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities. |
| Q99551877 | Recent advances in understanding primary ovarian insufficiency |
| Q56927575 | Recent developments in genetics and medically assisted reproduction: from research to clinical applications |
| Q93118941 | Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡ |
| Q92621572 | The evolving role of genetic tests in reproductive medicine |
| Q88922049 | Transcriptome-Wide Association Study Identifies Susceptibility Loci and Genes for Age at Natural Menopause |
| Q94502602 | What Is the Best Regimen for Ovarian Stimulation of Poor Responders in ART/IVF? |
| Q48298927 | Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency |
| Q64260753 | as a Model to Study the Multiple Phenotypes, Related to Genome Stability of the Fragile-X Syndrome |
Search more.