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Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect recessive inherited disorder in humans. Affected women, although developmentally normal themselves, suffer repeatedExpand
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UGT1A1 genotype and irinotecan therapy: general review and implementation in routine practice
Irinotecan is a major drug in the treatment of advanced colorectal cancer. Its active form is the SN38 metabolite, which is cleared by the biliary route after glucuronidation by uridineExpand
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The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole.
OBJECTIVES The NLRP7 gene (19q13.42) is associated with recurrent and/or familial hydatidiform moles. Several mutations, histopathological types and reproductive outcomes have been described. WeExpand
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Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families.
A familial or sporadic recurrent hydatidiform mole is a rare autosomal recessive condition that has been associated with biallelic mutations in the nucleotide-binding, leucine-rich repeat, pyrinExpand
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Physicochemical stability of oxaliplatin in 5% dextrose injection stored in polyvinyl chloride, polyethylene, and polypropylene infusion bags.
PURPOSE The physicochemical stability of extemporaneous dilutions of oxaliplatin in 5% dextrose injection stored in polyvinyl chloride (PVC), polypropylene, and polyethylene infusion bags wasExpand
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[Interest of UGT1A1 genotyping within digestive cancers treatment by irinotecan].
Irinotecan is a cytotoxic agent administered by IV infusion in the treatment of advanced colorectal cancer. Its anticancer activity results from its bioactivation into SN-38 metabolite, which isExpand
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Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure
To the Editor: Hydatidiform mole (HM, MIM# 231090) is an aberrant human pregnancy characterized by abnormal hyperplasic trophoblast and hydropic villi and defective foetal development (1). A rareExpand
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Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres
Familial mediterranean fever (FMF) is a hereditary autoinflammatory autosomal recessive disease caused by mutations in the MEFV gene. Despite the identification of many disease associated MEFVExpand
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Coupling of salting-out assisted liquid-liquid extraction with on-line stacking for the analysis of tyrosine kinase inhibitors in human plasma by capillary zone electrophoresis.
Developing an easy to use, cheap and fast analytical methodology is highly demanded for clinical practices, such as therapeutic drug monitoring (TDM). The present work deals with the development ofExpand
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NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.
CONTEXT Hydatidiform mole, an aberrant human pregnancy, is commonly a nonrecurrent disease. Recently, a rare autosomal recessive form of familial and/or recurrent molar pregnancies was associatedExpand
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