Results 191 to 200 of about 61,342 (328)

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

open access: yesAmerican Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova   +10 more
wiley   +1 more source

Ovarian aging: pathophysiology and recent developments in maintaining ovarian reserve. [PDF]

open access: yesFront Endocrinol (Lausanne)
Hirano M   +7 more
europepmc   +1 more source

Evaluation of different markers of the ovarian reserve in patients presenting with premature ovarian failure

open access: green, 2007
Nathalie Massin   +5 more
openalex   +2 more sources

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón   +10 more
wiley   +1 more source

Engineering Tertiary Lymphoid Structures: Nanomedicine, Bioengineering, and Biomaterials for Precision Immunotherapy

open access: yesAdvanced NanoBiomed Research, EarlyView.
This review explains how biomaterials and nanoparticles can be used to induce or modulate tertiary lymphoid structures (TLSs), which are ectopic immune hubs that form in nonlymphoid tissues during chronic disease and cancer. By comparing different methods, the article highlights design principles for modeling TLSs or recapitulating specific TLS ...
Shaza Karaman, Mei ElGindi, Jeremy Teo
wiley   +1 more source

Defining the cell and molecular origins of the primate ovarian reserve. [PDF]

open access: yesNat Commun
Wamaitha SE   +12 more
europepmc   +1 more source

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