Publications by authors named "Adeline A Bonnard"

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Safety and Effectiveness of Oral Glyburide Suspension in Neonatal Diabetes Mellitus: French Retrospective Cohort Study.
Ines Ben Rhaiem, Jacques Beltrand, Gaëlle Vermillac, Dulanjalee Kariyawasam, Delphine Geraud, Adeline Alice Bonnard

J Endocr Soc· July 2025

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Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.
Didier Bessis, Dominique Vidaud, Pierre Meyer, Laurence Pacot, de La Villeon G, Adeline Alice Bonnard

Orphanet J Rare Dis· April 2025

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Germline bi-allelic alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Chloé Arfeuille, Yoann Vial, Margaux Cadenet, Aurélie Caye-Eude, Odile Fenneteau, Adeline A Bonnard

Haematologica· August 2024

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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard

Eur J Hum Genet· August 2024

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New Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops.
Md Lutfur Rahman, Adeline A Bonnard, Feng Wang, Lyse Ruaud, Fabien Guimiot

medRxiv· August 2024

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Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.
Yoann Vial, Jeannette Nardelli, Adeline A Bonnard, Justine Rousselot, Michèle Souyri

EMBO Rep· May 2024

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Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Arnaud Chevrollier, Adeline Alice Bonnard, Lyse Ruaud, Naïg Gueguen, Laurence Perrin

Brain· January 2024

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Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant.
Alfonso Galderisi, Elsa Kermorvant-Duchemin, Alejandra Daruich, Adeline Alice Bonnard, Alexandre Lapillonne

JIMD Rep· March 2023

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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Marialetizia Motta, Maja Solman, Adeline A Bonnard, Alma Kuechler, Francesca Pantaleoni

Hum Mol Genet· August 2022

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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard

Am J Hum Genet· November 2021

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