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  1. Article: Santé des migrants et exigence éthique.

    Bernabe-Gelot, Antoinette

    Soins; la revue de reference infirmiere

    2019  Volume 65, Issue 843-844, Page(s) 24–27

    Abstract: Migrants' health is a subject that is often called up for aspects that are often presented as negative (insecurity, carelessness of public finances, major cultural replacement) in the name of which suspicion and rejection take hold. This vision does not ... ...

    Title translation Migrant health and ethical requirements.
    Abstract Migrants' health is a subject that is often called up for aspects that are often presented as negative (insecurity, carelessness of public finances, major cultural replacement) in the name of which suspicion and rejection take hold. This vision does not survive the factual analysis of public health, social and economic data. Nevertheless, National Consultative Ethics Committee in its opinion 127 in 2017 draws up a serious, and still topical, assessment of the situation with regard to the health of migrants. In it, he denounced the use of migrant health care as an instrument for political purposes and advocated hospitality and fraternity.
    MeSH term(s) Ethics ; Health Status ; Humans ; Transients and Migrants
    Language French
    Publishing date 2019-08-28
    Publishing country France
    Document type Journal Article
    ZDB-ID 604655-1
    ISSN 0038-0814
    ISSN 0038-0814
    DOI 10.1016/S0038-0814(20)30048-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: In Vivo Corneal Confocal Microscopy in Mucolipidosis Type IV.

    Martin, Gilles C / Bernabe-Gelot, Antoinette / Gabison, Eric

    Ophthalmology

    2021  Volume 128, Issue 4, Page(s) 521

    MeSH term(s) Biopsy ; Child ; Consanguinity ; Corneal Diseases/diagnostic imaging ; Corneal Diseases/genetics ; Female ; Humans ; Microscopy, Confocal ; Microscopy, Electron ; Mucolipidoses/diagnostic imaging ; Mucolipidoses/genetics ; Mutation ; Skin/ultrastructure ; Transient Receptor Potential Channels/genetics
    Chemical Substances MCOLN1 protein, human ; Transient Receptor Potential Channels
    Language English
    Publishing date 2021-03-22
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 392083-5
    ISSN 1549-4713 ; 0161-6420
    ISSN (online) 1549-4713
    ISSN 0161-6420
    DOI 10.1016/j.ophtha.2020.11.003
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  3. Article ; Online: Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists.

    Fazzi, Elisa / Korff, Christian / Bernabe Gelot, Antoinette / Leroy, Patricia / Rivier, Francois / San Antonio-Arce, Victoria / Veggiotti, Pierangelo

    Developmental medicine and child neurology

    2019  Volume 61, Issue 11, Page(s) 1348

    MeSH term(s) Humans ; Neurodevelopmental Disorders/etiology ; Neurodevelopmental Disorders/psychology ; Neurologists ; Pediatricians ; Refugees/psychology ; Transients and Migrants/psychology ; Vulnerable Populations
    Language English
    Publishing date 2019-06-10
    Publishing country England
    Document type Letter
    ZDB-ID 80369-8
    ISSN 1469-8749 ; 0012-1622
    ISSN (online) 1469-8749
    ISSN 0012-1622
    DOI 10.1111/dmcn.14275
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  4. Article ; Online: In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

    Alby, Caroline / Boutaud, Lucile / Bonnière, Maryse / Collardeau-Frachon, Sophie / Guibaud, Laurent / Lopez, Estelle / Bruel, Ange-Line / Aral, Bernard / Sonigo, Pascale / Roth, Philippe / Vibert-Guigue, Claude / Castaigne, Vanina / Carbonne, Bruno / Joyé, Nicole / Faivre, Laurence / Cordier, Marie-Pierre / Bernabe Gelot, Antoinette / Clementi, Maurizio / Mammi, Isabella /
    Vekemans, Michel / Razavi, Féréchté / Gonzales, Marie / Thauvin-Robinet, Christel / Attié-Bitach, Tania

    Birth defects research

    2017  Volume 110, Issue 4, Page(s) 382–389

    Abstract: Background: OFD1 syndrome is a rare ciliopathy inherited on a dominant X-linked mode, typically lethal in males in the first or second trimester of pregnancy. It is characterized by oral cavity and digital anomalies possibly associated with cerebral and ...

    Abstract Background: OFD1 syndrome is a rare ciliopathy inherited on a dominant X-linked mode, typically lethal in males in the first or second trimester of pregnancy. It is characterized by oral cavity and digital anomalies possibly associated with cerebral and renal signs. Its prevalence is between 1/250,000 and 1/50,000 births. It is due to heterozygous mutations of OFD1 and mutations are often de novo (75%). Familial forms show highly variable phenotypic expression. OFD1 encodes a protein involved in centriole growth, distal appendix formation, and ciliogenesis.
    Cases: We report the investigation of three female fetuses in which corpus callosum agenesis was detected by ultrasound during the second trimester of pregnancy. In all three fetuses, fetopathological examination allowed the diagnosis of OFD1 syndrome, which was confirmed by molecular analysis.
    Conclusions: To our knowledge, these are the first case reports of antenatal diagnosis of OFD1 syndrome in the absence of familial history, revealed following detection of agenesis of the corpus callosum. They highlight the impact of fetal examination following termination of pregnancy for brain malformations. They also highlight the contribution of ciliary genes to corpus callosum development.
    MeSH term(s) Agenesis of Corpus Callosum/diagnostic imaging ; Female ; Fetus/diagnostic imaging ; Humans ; Orofaciodigital Syndromes/diagnostic imaging ; Pregnancy ; Ultrasonography, Prenatal
    Language English
    Publishing date 2017-11-28
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2472-1727
    ISSN (online) 2472-1727
    DOI 10.1002/bdr2.1154
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  5. Article ; Online: WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

    Cavallin, Mara / Rujano, Maria A / Bednarek, Nathalie / Medina-Cano, Daniel / Bernabe Gelot, Antoinette / Drunat, Severine / Maillard, Camille / Garfa-Traore, Meriem / Bole, Christine / Nitschké, Patrick / Beneteau, Claire / Besnard, Thomas / Cogné, Benjamin / Eveillard, Marion / Kuster, Alice / Poirier, Karine / Verloes, Alain / Martinovic, Jelena / Bidat, Laurent /
    Rio, Marlene / Lyonnet, Stanislas / Reilly, M Louise / Boddaert, Nathalie / Jenneson-Liver, Melanie / Motte, Jacques / Doco-Fenzy, Martine / Chelly, Jamel / Attie-Bitach, Tania / Simons, Matias / Cantagrel, Vincent / Passemard, Sandrine / Baffet, Alexandre / Thomas, Sophie / Bahi-Buisson, Nadia

    Brain : a journal of neurology

    2017  Volume 140, Issue 10, Page(s) 2597–2609

    Abstract: Microlissencephaly is a rare brain malformation characterized by congenital microcephaly and lissencephaly. Microlissencephaly is suspected to result from abnormalities in the proliferation or survival of neural progenitors. Despite the recent ... ...

    Abstract Microlissencephaly is a rare brain malformation characterized by congenital microcephaly and lissencephaly. Microlissencephaly is suspected to result from abnormalities in the proliferation or survival of neural progenitors. Despite the recent identification of six genes involved in microlissencephaly, the pathophysiological basis of this condition remains poorly understood. We performed trio-based whole exome sequencing in seven subjects from five non-consanguineous families who presented with either microcephaly or microlissencephaly. This led to the identification of compound heterozygous mutations in WDR81, a gene previously associated with cerebellar ataxia, intellectual disability and quadrupedal locomotion. Patient phenotypes ranged from severe microcephaly with extremely reduced gyration with pontocerebellar hypoplasia to moderate microcephaly with cerebellar atrophy. In patient fibroblast cells, WDR81 mutations were associated with increased mitotic index and delayed prometaphase/metaphase transition. Similarly, in vivo, we showed that knockdown of the WDR81 orthologue in Drosophila led to increased mitotic index of neural stem cells with delayed mitotic progression. In summary, we highlight the broad phenotypic spectrum of WDR81-related brain malformations, which include microcephaly with moderate to extremely reduced gyration and cerebellar anomalies. Our results suggest that WDR81 might have a role in mitosis that is conserved between Drosophila and humans.
    MeSH term(s) Animals ; Animals, Genetically Modified ; Brain/diagnostic imaging ; Brain/pathology ; Cells, Cultured ; Child, Preschool ; Drosophila ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Female ; Fibroblasts/cytology ; Fibroblasts/pathology ; Gene Expression Regulation/genetics ; Humans ; Ki-67 Antigen/metabolism ; Male ; Microcephaly/diagnostic imaging ; Microcephaly/genetics ; Microcephaly/pathology ; Mitosis/genetics ; Mutation/genetics ; Nerve Tissue Proteins/genetics ; Neural Stem Cells/cytology ; Neural Stem Cells/pathology ; RNA Interference/physiology ; Young Adult
    Chemical Substances Drosophila Proteins ; Ki-67 Antigen ; Nerve Tissue Proteins ; WDR81 protein, human
    Language English
    Publishing date 2017-10-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awx218
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: MFN2, a new gene responsible for mitochondrial DNA depletion.

    Renaldo, Florence / Amati-Bonneau, Patrizia / Slama, Abdelhamid / Romana, Claudia / Forin, Veronique / Doummar, Diane / Barnerias, Christine / Bursztyn, Joseph / Mayer, Michèle / Khouri, Nejib / Billette de Villemeur, Thierry / Burglen, Lydie / Reynier, Pascal / Bernabe Gelot, Antoinette / Rodriguez, Diana

    Brain : a journal of neurology

    2012  Volume 135, Issue Pt 8, Page(s) e223, 1–4; author reply e224, 1–3

    MeSH term(s) DNA, Mitochondrial/genetics ; Female ; GTP Phosphohydrolases/genetics ; Humans ; Male ; Mitochondrial Myopathies/genetics ; Mitochondrial Proteins/genetics ; Optic Atrophy/genetics
    Chemical Substances DNA, Mitochondrial ; Mitochondrial Proteins ; GTP Phosphohydrolases (EC 3.6.1.-)
    Language English
    Publishing date 2012-08
    Publishing country England
    Document type Comment ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/aws111
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