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The genetic basis of female reproductive disorders: etiology and clinical testing
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title
The genetic basis of female reproductive disorders: etiology and clinical testing
(English)
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PubMed
author name string
Lawrence C. Layman
series ordinal
1
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language of work or name
English
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stated in
PubMed
publication date
6 May 2013
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stated in
PubMed
published in
Molecular and Cellular Endocrinology
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PubMed
volume
370
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PubMed
issue
1-2
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PubMed
page(s)
138-48
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PubMed
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Genome-wide linkage and association analyses implicate FASN in predisposition to Uterine Leiomyomata
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SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
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Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism
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Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis
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21 March 2017
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
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PubMed Central
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Mutations in NR5A1 associated with ovarian insufficiency
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Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
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PubMed Central
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21 March 2017
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
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Transcription factor FIGLA is mutated in patients with premature ovarian failure
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21 March 2017
Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study
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NOBOX homeobox mutation causes premature ovarian failure
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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
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Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26.
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A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
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Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene
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Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
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A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility
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An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
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The TDT and other family-based tests for linkage disequilibrium and association
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Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone
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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
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Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome
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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
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Positional cloning of the APECED gene
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The GPR54 gene as a regulator of puberty
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Clinical review#: Lipodystrophies: genetic and acquired body fat disorders
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A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese
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Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings
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Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene
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Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors
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Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man
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21 March 2017
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
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A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids
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Criteria for Defining Polycystic Ovary Syndrome as a Predominantly Hyperandrogenic Syndrome: An Androgen Excess Society Guideline
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The molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse models
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28 September 2017
Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism
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28 September 2017
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome
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28 September 2017
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
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28 September 2017
MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas
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28 September 2017
Family-based designs for genome-wide association studies
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28 September 2017
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
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28 September 2017
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia
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28 September 2017
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
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28 September 2017
Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations
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28 September 2017
Family-based analysis of candidate genes for polycystic ovary syndrome
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28 September 2017
The kisspeptin/neurokinin B/dynorphin (KNDy) cell population of the arcuate nucleus: sex differences and effects of prenatal testosterone in sheep
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28 September 2017
Genetic regulation of pituitary gland development in human and mouse
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28 September 2017
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism
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28 September 2017
Gonadotrophin-inhibitory hormone: a multifunctional neuropeptide
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28 September 2017
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
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28 September 2017
Hypothalamic control of the pituitary-gonadal axis in higher primates: key advances over the last two decades
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28 September 2017
Boys, girls and shuttling of SRY and SOX9.
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The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
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28 September 2017
Clinical manifestations of impaired GnRH neuron development and function
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28 September 2017
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism
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28 September 2017
Minireview: recent progress in gonadotropin-releasing hormone neuronal migration.
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28 September 2017
Human gene mutations causing infertility
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28 September 2017
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
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28 September 2017
The role of LH and FSH in ovarian androgen secretion and ovarian follicular development: clinical studies in a patient with isolated FSH deficiency and multicystic ovaries
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28 September 2017
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly
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28 September 2017
Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways
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28 September 2017
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
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28 September 2017
Genetics of human hypogonadotropic hypogonadism
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28 September 2017
Androgen insensitivity.
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28 September 2017
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta
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28 September 2017
Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin
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28 September 2017
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data
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28 September 2017
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 September 2017
Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 September 2017
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 September 2017
Kallmann syndrome. From genetics to neurobiology
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 September 2017
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 September 2017
17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 September 2017
Hypogonadism Caused by a Single Amino Acid Substitution in the β Subunit of Luteinizing Hormone
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 September 2017
Fragile X premutation screening in women with premature ovarian failure
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
31 May 2018
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
31 May 2018
Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
31 May 2018
The hypogonadal mouse: reproductive functions restored by gene therapy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
31 May 2018
Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
31 May 2018
Inactivating KISS1 mutation and hypogonadotropic hypogonadism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Luteinizing hormone beta mutation and hypogonadism in men and women.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Antley-Bixler syndrome with radioulnar synostosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Effect of follicle-stimulating hormone on ovarian androgen production in a woman with isolated follicle-stimulating hormone deficiency.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
A leptin missense mutation associated with hypogonadism and morbid obesity.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3767392
retrieved
28 November 2018
Delayed sexual development: a study of 252 patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23499866
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Adult-onset amenorrhea: a study of 262 patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23499866
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23499866
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Endometriosis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23499866
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23499866
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23499866
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.MCE.2013.02.016
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4220032
Fatcat ID
release_mkefufb5arhljngbjbk6fvi5iy
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/mkefufb5arhljngbjbk6fvi5iy
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
OpenCitations bibliographic resource ID
4220032
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4220032
PMC publication ID
3767392
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4220032
PubMed publication ID
23499866
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4220032
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