Hanna Nadine - Laboratory for Vascular Translational Science, Université Paris Diderot;Département de Génétique, Hôpital Bichat

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论文共 57 篇作者统计合作学者相似作者

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De Novo Balanced Translocations Disrupting the FBN1 Gene: an Uncommon Cause of Marfan Syndrome

Caroline Racine,Patrick Callier,Antonio Vitobello,Nadine Hanna,Pauline Arnaud,Jondeau Guillaume,Christel Thauvin-Robinet,Isabelle Creveaux,Vincent Gatinois,Renaud Touraine,Marjolaine Willems,Laurence Faivre

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 137-138

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Pathogenic Variants Affecting the TB5 Domain of the Fibrillin-1 Protein: Not Only in Geleophysic/acromicric Dysplasias but Also in Marfan Syndrome

Pauline Arnaud,Zakaria Mougin,Genevieve Baujat,Valerie Drouin-Garraud,Salima El Chehadeh,Laurent Gouya,Sylvie Odent,Guillaume Jondeau,Catherine Boileau,Nadine Hanna,Carine Le Goff

JOURNAL OF MEDICAL GENETICSno. 5 (2024): 469-476

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Data (gold) Mining in Genomic Databases Subsequent to Intensive Prospective Bibliographic Monitoring: a Substantial Diagnostic Rate

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 285-286

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Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts

Pauline Arnaud,Margaux Cadenet,Zakaria Mougin,Carine Le Goff,Sebastien Perbet,Mathilde Francois,Sophie Dupuis-Girod,Catherine Boileau,Nadine Hanna

Human mutation (2023): 1-7

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Pathogenic variants affecting the TB5 domain of fibrillin-1 protein in Marfan syndrome and Geleophysic/Acromicric Dysplasia patients: from tall to short

Pauline Arnaud,Nadine Hanna,Zakaria Mougin,Genevieve Baujat,Valerie Drouin-Garraud,Salima El Chehadeh,Laurent Gouya,Sylvie Odent,Guillaume Jondeau,Catherine Boileau,Carine Le Goff

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Genotype-Mitral Valve Phenotype Correlations in Marfan Syndrome with FBN1 Pathogenic Variants

Clémence Delhomme,Olivier Milleron,Florence Arnoult,Gabriel Delorme,Ludivine Eliahou, Sabrine Jadoui,Pauline Arnaud,Nadine Hanna,Catherine Boileau,Guillaume Jondeau

JACC Advancesno. 5 (2022): 100149

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Génétique Des Anévrismes De L’aorte Thoracique

Margaux Cadenet,Nadine Hanna,Pauline Arnaud

Annales de biologie cliniqueno. 4 (2022): 344-354

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An atypical phenotype in a patient carrying a deletion and a missense variant of LTPB3: search for overlapping cases for further delineation of the disease

Mathys Weber,Anne-Sophie Denomme-Pichon,Antonio Vitobello,Patrick Callier,Nadine Hanna,Pauline Arnaud,Carine Le Goff,Pauline Marzin,Catherine Boileau,Agnes Bloch-Zupan,Valerie Cormier-Daire,Christel Thauvin-Robinet,Laurence Faivre

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Unsuspected Somatic Mosaicism for FBN1 Gene Contributes to Marfan Syndrome

Pauline Arnaud,Hélène Morel,Olivier Milleron, Laurent Gouya,Christine Francannet,Antoine Da Costa,Carine Le Goff,Guillaume Jondeau,Catherine Boileau,Nadine Hanna

Genetics in Medicine（2021）

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