Výsledky vyhledávání - "Monique Elmaleh‐Bergès"

Akademický článek

Olfactory bulb anomalies in KBG syndrome mouse model and patients

Autor: Kara Goodkey, Anita Wischmeijer, Laurence Perrin, Adrianne E. S. Watson, Leenah Qureshi, Duccio Maria Cordelli, Francesco Toni, Maria Gnazzo, Francesco Benedicenti, Monique Elmaleh-Bergès, Karen J. Low, Anastassia Voronova

Publikováno v: BMC Medicine, Vol 22, Iss 1, Pp 1-24 (2024)

Abstract ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown that Ankrd11 regulates murine embryonic cortical neurogenesis. Here, we

Externí odkaz: https://doaj.org/article/e5bd30dce1194973adab02f96ce05861

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Akademický článek

Spectral-based thickness profiling of the corpus callosum enhances anomaly detection in fetal alcohol spectrum disorders

Autor: Justine Fraize, Yann Leprince, Monique Elmaleh-Bergès, Eliot Kerdreux, Richard Delorme, Lucie Hertz-Pannier, Julien Lefèvre, David Germanaud

Publikováno v: Frontiers in Neuroscience, Vol 17 (2023)

IntroductionFetal alcohol spectrum disorders (FASD) range from fetal alcohol syndrome (FAS) to non-syndromic forms (NS-FASD). The neuroanatomical consequences of prenatal alcohol exposure are mainly the reduction in brain size, but also focal abnorma

Externí odkaz: https://doaj.org/article/86c06d692f114a7d8f930b5b2029ce9b

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Akademický článek

Mapping corpus callosum surface reduction in fetal alcohol spectrum disorders with sulci and connectivity-based parcellation

Autor: Justine Fraize, Gabrielle Convert, Yann Leprince, Florent Sylvestre-Marconville, Eliot Kerdreux, Guillaume Auzias, Julien Lefèvre, Richard Delorme, Monique Elmaleh-Bergès, Lucie Hertz-Pannier, David Germanaud

Publikováno v: Frontiers in Neuroscience, Vol 17 (2023)

IntroductionFetal alcohol spectrum disorders (FASD) range from fetal alcohol syndrome (FAS) to non-syndromic non-specific forms (NS-FASD) that are still underdiagnosed and could benefit from new neuroanatomical markers. The main neuroanatomical manif

Externí odkaz: https://doaj.org/article/fa5687ebb2d942ed9834c2cf0bf45f14

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Akademický článek

Imaging of parotid anomalies in infants and children

Autor: François Chalard, Anne-Laure Hermann, Monique Elmaleh-Bergès, Hubert Ducou le Pointe

Publikováno v: Insights into Imaging, Vol 13, Iss 1, Pp 1-19 (2022)

Abstract A wide spectrum of disorders involves the parotid glands, in infancy and childhood. Acute or chronic inflammatory/infectious diseases are predominant. The first branchial cleft anomalies are congenital lesions that typically manifest during

Externí odkaz: https://doaj.org/article/5b0c612c9d4b40939e2121f1fda3cea6

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Akademický článek

Correction: Imaging of parotid anomalies in infants and children

Autor: François Chalard, Anne-Laure Hermann, Monique Elmaleh-Bergès, Hubert Ducou le Pointe

Publikováno v: Insights into Imaging, Vol 13, Iss 1, Pp 1-1 (2022)

Externí odkaz: https://doaj.org/article/3f08c5df760947a9b1eb3e130f1fc521

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Akademický článek

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

Publikováno v: eLife, Vol 5 (2016)

Previously, we identified QIL1 as a subunit of mitochondrial contact site (MICOS) complex and demonstrated a role for QIL1 in MICOS assembly, mitochondrial respiration, and cristae formation critical for mitochondrial architecture (Guarani et al., 20

Externí odkaz: https://doaj.org/article/c2eb5d8eb5b14293a741ed6e1db3525a

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Akademický článek

Effect of transfusion therapy on cerebral vasculopathy in children with sickle-cell anemia

Autor: Brigitte Bader-Meunier, Suzanne Verlhac, Monique Elmaleh-Bergès, Ghislaine Ithier, Fatiha Sellami, Sonia Faid, Florence Missud, Rolande Ducrocq, Corinne Alberti, Isabelle Zaccaria, Andre Baruchel, Malika Benkerrou

Publikováno v: Haematologica, Vol 94, Iss 1 (2009)

This retrospective study assessed the long-term effect of transfusional exchange therapy on MRA/MRI abnormalities in 24 homozygous sickle-cell anemia (HbSS) children presenting with abnormal brain MRA. The median time elapsed from baseline to last av

Externí odkaz: https://doaj.org/article/6b7338e5fe6e49fdbdd50596dc505a87

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