[PDF] Top 20 CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
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CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
... Premature ovarian failure (POF), also known as premature ovarian insufficiency (POI), typi- cally is defined by elevated serum FSH levels prior to the age of 40 years ...gene ... See full document
14
The FMR1 premutation as a cause of premature ovarian failure
... POF associated with the FMR1 premutation appears to cluster in some families (Vianna-Morgante et al., 1996), while in others none of the carrier women have POF. Con- sidering that peculiarities of certain premutations ... See full document
6
Genetic Aspects of Premature Ovarian Failure
... Figure 1: Possible mechanisms of hypergonadotropic hypogonadism in females. (A) In normal ovaries maturation of follicles is beginning at the time of puberty. (B) In case of maturation arrest only primordial or primary ... See full document
5
Arq Bras Endocrinol Metab vol.58 número2
... Primary ovarian failure (POF) occurs in about 1% of the female population under 40 years of age, leading to reproductive disorders, early symptoms of menopause and other comorbidities ...and ... See full document
9
Diagnóstico genético de duas famílias com casos de Acidose tubularrenal distal por meio de Whole-Exome Sequencing
... Loss-of-function mutations in the gene that codi- fies the NBC-1, the SLC4A4 gene, were first identified in two Japanese subjects with proximal RTA associated with cataracts, glaucoma and band keratopathy ... See full document
81
REVIEW OF DENGUE DEATHS: ACUTE LIVER FAILURE AS A MAJOR CAUSE OF MORTALITY
... liver failure was defined in our study as evidence of coagulation failure defined by International Normalized Ratio (INR) ...to cause hepatitis, peripheral smear showing malaria parasite, or positive ... See full document
5
Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis
... six mutations in Kir2.6 associated with TPP. These mutations are largely localized in the channel’s intra- cellular C terminus with a single frame-shift truncation mutation in the pore ...These ... See full document
11
Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog.
... possible mutations, a missense mutation (G616T;C188F) and two promoter mutations that together appear to reduce the expression levels of one of the ...of mutations as found in the ... See full document
8
Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea
... 49.5 mmHg), hyponatraemia (120 mmol/L), hypokalae- mia (2.84 mmol/L) and hypochloraemia (60 mmol/L). Serum creatinine, urea nitrogen, calcium, magnesium, phosphorus, albumin, glucose and liver function tests were within ... See full document
4
Possible Role of Autoimmunity in Patients with Premature Ovarian Insuf f iciency
... germinal ovarian cells even after birth; veriication of which is being sought in studies on human ova- ries (18, ...ated ovarian stem cells differentiate into structures similar to egg cells under certain ... See full document
10
Acidose tubular renal distal em crianças e adolescentes
... by mutations in genes encoding transporter or channel proteins operating along the renal ...gain-of-function mutations in genes encoding cotransporter, exchanger, or channel proteins, which are located in ... See full document
130
Risk factors for ovarian failure in patients with systemic lupus erythematosus
... of ovarian follicles decreases markedly with age, until the last decade prior to meno- ...a cause of amenorrhea in women with SLE ...induced ovarian insufficiency who had been followed for 5 years ... See full document
8
Einstein (São Paulo) vol.15 número3
... Premature ovarian failure (POF), which has been recently called premature ovarian insufficiency (POI), is a process by which the gradual decline of ovarian function results in ... See full document
4
A STUDY ON ETIOLOGY AND PROFILE OF PLEURAL EFFUSION IN CHRONIC KIDNEY DISEASE
... Co-morbid illnesses were defined as the presence of coexisting cardiac failure, ischemic heart disease, chronic lung disease (COPD), chronic liver disease, malignancies, neurological diseases and diabetes ... See full document
12
Assessment of the Reliability ofFractionator Column of the Kaduna Refinery using Failure Modes Effects and Criticality Analysis (FMECA)
... , 1995used this tool to assess the reliability of a FCCU. Also, Flecher, P [10] . 2012 used this tool to assess the risk of Sinopec X’ian branch FCCU. His result showed that reactor-regenerator systems have the highest ... See full document
8
Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights
... main cause of morbid- ity and ...which cause retention and premature activation of digestive proenzymes, which results in tissue destruction and ibrosis ...1-3 mutations are the most common ... See full document
9
Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
... GARS mutations were validated by Sanger sequencing with intronic primers flanking the coding regions of GARS using the Big Dye ...missense mutations were conducted using Combined Annotation Dependent ... See full document
10
Clinical relevance of gain-of-function mutations of p53 in high-grade serous ovarian carcinoma.
... serous ovarian carcinoma (HGS-OvCa) patients with GOF p53 mutations were evaluated according to a comprehensive somatic mutation profile comprised of whole exome sequencing, mRNA expression, and protein ... See full document
9
Unusual Anatomic Variation of Ovarian Ligament: Can It Be a Cause of Chronic Abdominal Pain During Pregnancy?
... right ovarian ligament was observed to be ending at the right round ligament instead of attaching to the right ovary (Figure 1, Figure ...shaped ovarian ligament and the right side of the uterus (Figure ... See full document
3
Novel ABCA3 mutations as a cause of respiratory distress in a term newborn
... The mutations result in a loss or reduced function of the ABCA3 protein, and are inherited in an autosomal recessive ...ABCA3 mutations causes fatal respiratory distress syndrome in newborns (Shulenin et ... See full document
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