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Clinical management of congenital hypogonadotropic hypogonadism
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …
[HTML][HTML] European consensus statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
U Boehm, PM Bouloux, MT Dattani… - Nature Reviews …, 2015 - nature.com
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the
deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which …
deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which …
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S Eggers, S Sadedin, JA Van Den Bergen, G Robevska… - Genome biology, 2016 - Springer
Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease
B Cangiano, DS Swee, R Quinton, M Bonomi - Human Genetics, 2021 - Springer
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …
Absence of colony stimulation factor-1 receptor results in loss of microglia, disrupted brain development and olfactory deficits
B Erblich, L Zhu, AM Etgen, K Dobrenis, JW Pollard - PloS one, 2011 - journals.plos.org
The brain contains numerous mononuclear phagocytes called microglia. These cells
express the transmembrane tyrosine kinase receptor for the macrophage growth factor …
express the transmembrane tyrosine kinase receptor for the macrophage growth factor …
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism
Abstract Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a
genetically and clinically heterogeneous disorder. Mutations in many different genes are …
genetically and clinically heterogeneous disorder. Mutations in many different genes are …
Genetics of combined pituitary hormone deficiency: roadmap into the genome era
Q Fang, AS George, ML Brinkmeier… - Endocrine …, 2016 - academic.oup.com
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
GP Sykiotis, L Plummer, VA Hughes, M Au… - Proceedings of the …, 2010 - pnas.org
Between the genetic extremes of rare monogenic and common polygenic diseases lie
diverse oligogenic disorders involving mutations in more than one locus in each affected …
diverse oligogenic disorders involving mutations in more than one locus in each affected …
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism (IHH) has an incidence of 1–10 cases per
100,000 births. About 60% of patients with IHH present with associated anosmia, also …
100,000 births. About 60% of patients with IHH present with associated anosmia, also …