Concepedia

Author

Marguerite Miguet

Assistance Publique – Hôpitaux de Paris

Also Known As

A.-M Guerrot, M. Miguet, Marguerite Miguet, Miguet, Marguerite, Sandrine Meunier

20

Publications

811

Citations

10

H-Index

8

Concepts

All Affiliations

Assistance Publique – Hôpitaux de ParisHôpital Robert-DebréInsermHôpitaux Universitaires de StrasbourgHospices Civils de Lyon
MM

About

Marguerite Miguet is an author at Assistance Publique – Hôpitaux de Paris specializing in medicine, genetics, and pathology.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

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2

99

2

Pathology

2

2

99

3

Molecular Genetics

1

1

41

4

Molecular Medicine

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1

58

5

Clinical Genetics

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41

Marguerite Miguet

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8

Publications

315

Citations

8

H-Index

YearCitations

Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet, Laurence Faivre, Jeanne Amiel,

Journal of Medical Genetics

2018

61

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet,

Acta Neuropathologica

2017

58

Xq28 duplication including <i><scp>MECP2</scp></i> in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Salima El Chehadeh, Renaud Touraine, Fabienne Prieur,

Clinical Genetics

2016

54

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

René G. Feichtinger, Bettina E. Mucha, Holger Hengel,

Genetics in Medicine

2019

41

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Nadège Calmels, Géraldine Greff, Cathy Obringer,

Orphanet Journal of Rare Diseases

2016

40

Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility

Radhia M’kacher, Bruno Colicchio, Claire Borie,

Genes

2020

27

Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility

Radhia M’kacher, Bruno Colicchio, Valentine Marquet,

Fertility and Sterility

2020

24

ALICE forward detectors: FMD, TO and VO : Technical Design Report

P. Cortese, Chambert, R.S. Simon,

CERN Document Server (European Organization for Nuclear Research)

2004

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