Publications by authors named "Adeline 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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Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocations.
Miriam Villegas Villarroel, Céline Huber, Geneviève Baujat, Adeline Bonnard, Corinne Collet

J Bone Miner Res· March 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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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Adeline Bonnard

Am J Med Genet A· February 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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Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study.
Matthieu Peycelon, Nathalie Lelong, Léa Carlier, M Francesca Monn, Aliénor De Chalus, Adeline Bonnard

J Urol· May 2020

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Growth charts in Kabuki syndrome 1.
Valentin Ruault, Carole Corsini, Claire Duflos, Sandrine Akouete, Véra Georgescu, Adeline Bonnard

Am J Med Genet A· March 2020

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Oligo-astrocytoma in LZTR1-related Noonan syndrome.
Adeline Jacquinet, Adeline Bonnard, Yline Capri, Didier Martin, Bernard Sadzot

Eur J Med Genet· January 2020

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Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion.
Eloïse Giabicani, Sandra Chantot-Bastaraud, Adeline Bonnard, Myriam Rachid, Sandra Whalen

Front Endocrinol (Lausanne)· April 2019

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Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent.
Adeline Bonnard, Ariane Herson, Marcela Gargiulo, Alexandra Durr

Eur J Hum Genet· January 2019

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