Sophie Monnot

Paris, France

Last Updated: 09/26/2026

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Found 28 publications

Effectiveness of preimplantation genetic testing in sickle cell disease: insights from a single-center experience.

Effectiveness of preimplantation genetic testing in sickle cell disease: insights from a single-center experience.

Journal: Journal of assisted reproduction and genetics

Published: September 05, 2025

A rare coexistence: Ollier disease and primary hyperparathyroidism-mere coincidence or expanding the spectrum of Ollier disease?

A rare coexistence: Ollier disease and primary hyperparathyroidism-mere coincidence or expanding the spectrum of Ollier disease?

Journal: JBMR plus

Published: August 31, 2025

Thinking about transcultural prenatal genetic counseling

Thinking about transcultural prenatal genetic counseling

Journal: Soins. Pediatrie, puericulture

Published: March 15, 2025

Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders.

Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders.

Journal: Human reproduction (Oxford, England)

Published: September 11, 2024

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Journal: European journal of human genetics : EJHG

Published: March 12, 2024

PGT and deferred embryo transfer: Is blastocyst biopsy more effective than cleaved embryo biopsy?

PGT and deferred embryo transfer: Is blastocyst biopsy more effective than cleaved embryo biopsy?

Journal: Journal of gynecology obstetrics and human reproduction

Published: October 03, 2023

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

Journal: Journal of dental research

Published: March 23, 2023

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

Journal: Human reproduction (Oxford, England)

Published: December 04, 2022

Preimplantation genetic testing for mitochondrial DNA mutation: ovarian response to stimulation, outcomes and follow-up.

Preimplantation genetic testing for mitochondrial DNA mutation: ovarian response to stimulation, outcomes and follow-up.

Journal: Reproductive biomedicine online

Published: October 24, 2022

What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?

What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?

Journal: Human reproduction (Oxford, England)

Published: April 16, 2021

Assessing bleeding risk in 18 children with Osteogenesis imperfecta.

Assessing bleeding risk in 18 children with Osteogenesis imperfecta.

Journal: British journal of haematology

Published: January 21, 2021

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 01, 2020

Showing 1-12 of 28

Last Updated: 09/26/2026