Marie‐France Portnoï

Author

Sorbonne Université

Also Known As

Marie-France Portnoi, Marie-France Portnoï, Marie-France Portnoï, Marie-France Portnoı̈, Marie‐France Portnoï

Publications

1.7K

Citations

H-Index

Concepts

All Affiliations

Sorbonne Université Hôpital Saint-Antoine Assistance Publique – Hôpitaux de Paris Hôpital Armand-Trousseau Inserm

About

Marie‐France Portnoï is an author at Sorbonne Université specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	12	547
2	Health Sciences	3	3	167
3	Public Health	2	2	62
4	Biology	2	2	69
5	Natural Sciences	1	1	32

Marie‐France Portnoï

Publications

Citations

H-Index

Page 1

	Year	Citations
Cord-Blood Transplantation from an Unrelated Donor in an Adult with Chronic Myelogenous Leukemia Jean-Philippe Laporte, Norbert Claude Gorin, Pablo Rubinstein, New England Journal of Medicine PathologyCell Replacement TherapyChronic Myelogenous LeukemiaMyeloid NeoplasiaHematological Malignancy	1996	105
Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure Azzedine Aboura, Claire Dupas, Gérard Tachdjian, The Journal of Clinical Endocrinology & Metabolism	2009	96
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies Marie‐France Portnoï, Marie-Charlotte Dumargne, Sandra Rojo, Human Molecular Genetics	2018	82
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron, Journal of Medical Genetics	2019	79
Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome Pascale Saugier-Véber, Céline Bonnet, Alexandra Afenjar, Human Mutation	2007	66
Familial Turner syndrome with an X;Y translocation mosaicism: Implications for genetic counseling Marie‐France Portnoï, Sandra Chantot‐Bastaraud, Sophie Christin‐Maître, European Journal of Medical Genetics Down SyndromeY Translocation MosaicismGenetic DisorderMedicineGenetics	2012	64
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 Christian Wentzel, Evica Rajcan‐Separovic, Claudia Ruivenkamp, European Journal of Human Genetics Interstitial DeletionsMedicineGeneticsGenetic DisorderPathology	2011	60
Myoclonus-Dystonia Due to Maternal Uniparental Disomy E. Guettard, Marie‐France Portnoï, K. Lohmann-Hedrich, Archives of Neurology	2008	55
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth‐Bolard, European Journal of Human Genetics EpidemiologyClinical PopulationDiagnosisLaboratory MedicineMedicine	2015	52
Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapy Steven Richebourg, Virginie Éclache, Christine Pérot, Cancer Genetics and Cytogenetics Hematological MalignancyChromatinChronic Myeloid LeukemiaBcr Deletion StatusVariant Translocation	2008	51

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