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Marie-José Perez

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
2012 · Louise Devisme, Céline Bouchet, et al. · Brain · 192
Decreased Full Breastfeeding, Altered Practices, Perceptions, and Infant Weight Change of Prepregnant Obese Women: A Need for Extra Support
2008 · Elise Mok, Clarisse Multon, et al. · PEDIATRICS · 146
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
2013 · Homa Adle-Biassette, Pascale Saugier-Veber, et al. · Acta Neuropathologica · 132
Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
2014 · Camille Humbert, Flora Silbermann, et al. · The American Journal of Human Genetics · 99
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NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
2012 · Joyce El Hokayem, Céline Huber, et al. · Journal of Medical Genetics · 68
Molecular heterogeneity in fetal forms of type II lissencephaly
2007 · C. Bouchet, M. Gonzales, et al. · Human Mutation · 62
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Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations
2012 · Marine Legendre, Marie Gonzales, et al. · Journal of Medical Genetics · 57
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
2020 · Mathilde Lefebvre, Ange-Line Bruel, et al. · Journal of Medical Genetics · 36
Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome
2016 · A. Putoux, A. Alqahtani, et al. · Clinical Genetics · 19
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A balance between activating and repressive histone modifications regulatescystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo
2014 · Anne Bergougnoux, Isabelle Rivals, et al. · Epigenetics · 19
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Epithelial Phenotypes in the Developing Human Prostate
2007 · Guy Letellier, Marie-José Perez, et al. · Journal of Histochemistry & Cytochemistry · 17
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Three-dimensional computer-assisted dissection of pancreatic lymphatic anatomy on human fetuses: a step toward automatic image alignment
2018 · T. Bardol, G. Subsol, et al. · Surgical and Radiologic Anatomy · 9
Epiphyseal punctate calcifications (stippling) in complete trisomy 9
2009 · Marie‐José Perez, Anouck Schneider, et al. · Prenatal Diagnosis · 5
Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
2014 · Camille Humbert, Flora Silbermann, et al. · The American Journal of Human Genetics · 2
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OP02.06: Noonan syndrome fetal phenotype with PTPN11, RIT1, RAF1 and NRAS pathogenic variant: ultrasound data, fetopathology study and literature review
2019 · A. Lamouroux, C. Dauge, et al. · Ultrasound in Obstetrics and Gynecology
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Epigenetic modifications and CFTR gene expression in healthy adult and fetal human tissues
2014 · A. Bergougnoux, A. Liquori, et al. · Revue des Maladies Respiratoires
Epithelial Phenotypes in the Developing Human Prostate
2006 · G. Letellier, M.J. Perez, et al. · European Urology Supplements
Works count: 17
Citation count: 863
H-index: 11
I10-index: 11
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