Search

Your search keyword '"Galliani, Eva"' showing total 27 results
Start Over Author "Galliani, Eva"
27 results on '"Galliani, Eva"'

2. Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

Author

Hennocq, Quentin, Willems, Marjolaine, Amiel, Jeanne, Arpin, Stéphanie, Attie-Bitach, Tania, Bongibault, Thomas, Bouygues, Thomas, Cormier-Daire, Valérie, Corre, Pierre, Dieterich, Klaus, Douillet, Maxime, Feydy, Jean, Galliani, Eva, Giuliano, Fabienne, Lyonnet, Stanislas, Picard, Arnaud, Porntaveetus, Thantrira, Rio, Marlène, Rouxel, Flavien, Shotelersuk, Vorasuk, Toutain, Annick, Yauy, Kevin, Geneviève, David, Khonsari, Roman H., and Garcelon, Nicolas

Published
2024
Full Text
View/download PDF

4. Biallelic truncating variants inVGLL2cause syngnathia in humans

Author

Agostini, Valeria, primary, Tessier, Aude, additional, Djaziri, Nabila, additional, Khonsari, Roman Hossein, additional, Galliani, Eva, additional, Kurihara, Yukiko, additional, Honda, Masahiko, additional, Kurihara, Hiroki, additional, Hidaka, Kyoko, additional, Tuncbilek, Gokhan, additional, Picard, Arnaud, additional, Konas, Ersoy, additional, Amiel, Jeanne, additional, and Gordon, Christopher T, additional

Published
2023
Full Text
View/download PDF

5. AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

Author

Hennocq, Quentin, primary, Bongibault, Thomas, additional, Marlin, Sandrine, additional, Amiel, Jeanne, additional, Attie-Bitach, Tania, additional, Baujat, Geneviève, additional, Boutaud, Lucile, additional, Carpentier, Georges, additional, Corre, Pierre, additional, Denoyelle, Françoise, additional, Djate Delbrah, François, additional, Douillet, Maxime, additional, Galliani, Eva, additional, Kamolvisit, Wuttichart, additional, Lyonnet, Stanislas, additional, Milea, Dan, additional, Pingault, Véronique, additional, Porntaveetus, Thantrira, additional, Touzet-Roumazeille, Sandrine, additional, Willems, Marjolaine, additional, Picard, Arnaud, additional, Rio, Marlène, additional, Garcelon, Nicolas, additional, and Khonsari, Roman H., additional

Published
2023
Full Text
View/download PDF

6. Biallelic truncating variants in VGLL2 cause syngnathia in humans.

Author

Agostini, Valeria, Tessier, Aude, Djaziri, Nabila, Khonsari, Roman Hossein, Galliani, Eva, Yukiko Kurihara, Masahiko Honda, Hiroki Kurihara, Kyoko Hidaka, Tuncbilek, Gokhan, Picard, Arnaud, Konas, Ersoy, Amiel, Jeanne, and Gordon, Christopher T.

Abstract

Background Syngnathia is an ultrarare craniofacial malformation characterised by an inability to open the mouth due to congenital fusion of the upper and lower jaws. The genetic causes of isolated bony syngnathia are unknown. Methods We used whole exome and Sanger sequencing and microsatellite analysis in six patients (from four families) presenting with syngnathia. We used CRISPR/Cas9 genome editing to generate vgll2a and vgll4l germline mutant zebrafish, and performed craniofacial cartilage analysis in homozygous mutants. Results We identified homozygous truncating variants in vestigial-like family member 2 (VGLL2) in all six patients. Two alleles were identified: one in families of Turkish origin and the other in families of Moroccan origin, suggesting a founder effect for each. A shared haplotype was confirmed for the Turkish patients. The VGLL family of genes encode cofactors of TEAD transcriptional regulators. Vgll2 is regionally expressed in the pharyngeal arches of model vertebrate embryos, and morpholino-based knockdown of vgll2a in zebrafish has been reported to cause defects in development of pharyngeal arch cartilages. However, we did not observe craniofacial anomalies in vgll2a or vgll4l homozygous mutant zebrafish nor in fish with double knockout of vgll2a and vgll4l. In Vgll2−/− mice, which are known to present a skeletal muscle phenotype, we did not identify defects of the craniofacial skeleton. Conclusion Our results suggest that although loss of VGLL2 leads to a striking jaw phenotype in humans, other vertebrates may have the capacity to compensate for its absence during craniofacial development. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

10. Biallelic truncating variants in VGLL2cause syngnathia in humans

Author

Agostini, Valeria, Tessier, Aude, Djaziri, Nabila, Khonsari, Roman Hossein, Galliani, Eva, Kurihara, Yukiko, Honda, Masahiko, Kurihara, Hiroki, Hidaka, Kyoko, Tuncbilek, Gokhan, Picard, Arnaud, Konas, Ersoy, Amiel, Jeanne, and Gordon, Christopher T

Abstract

BackgroundSyngnathia is an ultrarare craniofacial malformation characterised by an inability to open the mouth due to congenital fusion of the upper and lower jaws. The genetic causes of isolated bony syngnathia are unknown.MethodsWe used whole exome and Sanger sequencing and microsatellite analysis in six patients (from four families) presenting with syngnathia. We used CRISPR/Cas9 genome editing to generate vgll2aand vgll4lgermline mutant zebrafish, and performed craniofacial cartilage analysis in homozygous mutants.ResultsWe identified homozygous truncating variants in vestigial-like family member 2 (VGLL2) in all six patients. Two alleles were identified: one in families of Turkish origin and the other in families of Moroccan origin, suggesting a founder effect for each. A shared haplotype was confirmed for the Turkish patients. The VGLLfamily of genes encode cofactors of TEAD transcriptional regulators. Vgll2is regionally expressed in the pharyngeal arches of model vertebrate embryos, and morpholino-based knockdown of vgll2ain zebrafish has been reported to cause defects in development of pharyngeal arch cartilages. However, we did not observe craniofacial anomalies in vgll2aor vgll4lhomozygous mutant zebrafish nor in fish with double knockout of vgll2aand vgll4l. In Vgll2−/−mice, which are known to present a skeletal muscle phenotype, we did not identify defects of the craniofacial skeleton.ConclusionOur results suggest that although loss of VGLL2leads to a striking jaw phenotype in humans, other vertebrates may have the capacity to compensate for its absence during craniofacial development.

Published
2023
Full Text
View/download PDF

11. Liste des collaborateurs

Author

Breton, Isabelle, primary, Cantaloube, Daniel, additional, Cassier, Sophie, additional, Chikhani, Luc, additional, Chouvin, Monique, additional, Deffrennes, Dominique, additional, Diner, Patrick, additional, Frapier, Laure, additional, Galliani, Eva, additional, Garcia, Robert, additional, Kadlub, Natacha, additional, Massif, Laurent, additional, Mossaz, Claude, additional, Philippe-Alliez, Camille, additional, Picard, Arnaud, additional, Richter, Michel, additional, Rousseau, Paul, additional, Salvadori, André, additional, Tomat, Catherine, additional, Tulasne, Jean-François, additional, Marie-Paule, Vasquez, additional, Brigitte, Vi-Fane, additional, and Yachouh, Jacques, additional

Published
2012
Full Text
View/download PDF

16. Additional file 1: of Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

Author

Friedlander, Lisa, RĂŠmy Choquet, Galliani, Eva, Chalendar, Myriam De, Messiaen, Claude, AmĂŠlie Ruel, Marie-Paule Vazquez, Berdal, Ariane, Alberti, Corinne, and Molla, Muriel De La Dure

Subjects
stomatognathic diseases, stomatognathic system
Abstract

Reference and competence centres for the Head, Neck and Teeth French Rare Diseases Network. (DOCX 27 kb)

Published
2017
Full Text
View/download PDF

18. Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Galliani, Eva, Burglen, Lydie, Kadlub, Natacha, Just, Walter, Sznajer, Yves, de Villemeur, Thierry Billette, Soupre, Véronique, Picard, Arnaud, Vazquez, Marie-Paule, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Galliani, Eva, Burglen, Lydie, Kadlub, Natacha, Just, Walter, Sznajer, Yves, de Villemeur, Thierry Billette, Soupre, Véronique, Picard, Arnaud, and Vazquez, Marie-Paule

Abstract

Branchio-oculo-facial syndrome represents a craniofacial disorder in which affected patients may develop a wide range of distinctive features that include cleft lip and/or palate, cervical aplastic skin defect, malformed pinna, and ocular anomalies. This study reports four new cases confirmed by the identification of mutations in the TFAP2A gene and describes in detail the findings in the craniofacial region. The four cases included two familial and two sporadic, and three have been followed since the birth. Two out of the four cases showed atypical features. One patient presented brainstem immaturity with dysregulation of sympathetic and parasympathetic systems, which have so far not been described in the literature and were associated with anxiety, panic attacks, and tiredness. Another patient had as an additional feature a hypoplastic thumb with distal implantation.

Published
2012

19. Traitement primaire des brèches alvéolaires dans les fentes labio-maxillo-palatines

Author

Picard, Arnaud, primary, Kadlub, Natacha, additional, Galliani, Eva, additional, Soupre, Véronique, additional, Cassier, Sophie, additional, Constantinescu, Georgiana, additional, Zazurca, Frédéric, additional, Tomat, Catherine, additional, Vi-Fane, Brigitte, additional, Trichet-Zbinden, Chantal, additional, Chapuis-Vandenbogaerde, Cécile, additional, Diner, Patrick A., additional, and Vazquez, Marie-Paule, additional

Published
2012
Full Text
View/download PDF

21. Initial treatment of alveolar gaps in cases of labio-maxillary-palatal clefts

Author

Picard, Arnaud, primary, Kadlub, Natacha, additional, Galliani, Eva, additional, Soupre, Veronique, additional, Cassier, Sophie, additional, Constantinescu, Geoorgiana, additional, Zazurca, Frederic, additional, Tomat, Catherine, additional, Vi-Fane, Brigitte, additional, Trichet-Zbinden, Chantal, additional, Chapuis-Vandenbogaerde, Cecile, additional, Diner, Patrick A., additional, and Vazquez, Marie-Paule, additional

Published
2012
Full Text
View/download PDF

23. Interventional calendar and protocol for cleft lift and palate repair at the maxillofacial and plastic surgery department of the Armand Trousseau Children’s Hospital (AP-HP, Paris)

Author

Picard, Arnaud, primary, Galliani, Eva, additional, Soupre, Véronique, additional, Kadlub, Natacha, additional, Cassier, Sophie, additional, Constantinescu, Georgiana, additional, Zazurca, Frédéric, additional, Tomat, Catherine, additional, Vi-Fane, Brigitte, additional, Trichet-Zbinden, Chantal, additional, Chapuis-Vandenbogaerde, Cécile, additional, Diner, Patrick A., additional, and Vazquez, Marie-Paule, additional

Published
2011
Full Text
View/download PDF

24. Calendrier et protocole interventionnel des fentes labiopalatines au sein du Service de chirurgie maxillo-faciale et plastique de l’Hôpital d’Enfants Trousseau (AP-HP, Paris)

Author

Picard, Arnaud, primary, Galliani, Eva, additional, Soupre, Véronique, additional, Kadlub, Natacha, additional, Cassier, Sophie, additional, Constantinescu, Georgiana, additional, Zazurca, Frédéric, additional, Tomat, Catherine, additional, Vi-Fane, Brigitte, additional, Trichet-Zbinden, Chantal, additional, Chapuis-Vandenbogaerde, Cécile, additional, Diner, Patrick A., additional, and Vazquez, Marie-Paule, additional

Published
2011
Full Text
View/download PDF

27. Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome.

Author

Giabicani, Éloïse, Boulé, Michèle, Aubertin, Guillaume, Galliani, Eva, Brioude, Frédéric, Dubern, Béatrice, and Netchine, Irène

Subjects
*SOMATOMEDIN C, *SLEEP disorders, *PRADER-Willi syndrome, *SLEEP apnea syndromes
Abstract

Objective: Imprinting disorders (ID), such as Prader-Willi syndrome (PWS), are associated with sleep-disordered breathing (SDB). No data are available for Silver-Russell syndrome (SRS), another ID that shares clinical features with PWS, although many patients describe excessive daytime sleepiness, disturbed sleep, and snoring. The aim of this study was to characterize sleep in children with SRS and to evaluate the impact of recombinant growth hormone (rGH) therapy.Methods: We performed a retrospective analysis of sleep recordings in 40 patients with molecularly proven SRS (methylation anomaly in 11p15 [n = 32] or maternal uniparental disomy of chromosome 7 [n = 16]). Sleep recordings were either by means of polygraphy or polysomnography (PSG) (n = 16). A total of 34 patients received rGH therapy.Results: We collected 61 sleep recordings. The mean apnea-hypopnea index (AHI) was 3.4 events/h (0-12.4), with a mean central AHI of 0.5 events/h (0-2.4). SDB was identified in 73.8% (n = 45) of the recordings and was severe in 4.9%. SDB was present in 86.4% of patients before rGH therapy and was severe in 13.6%. AHI worsened for 5 of 12 patients with sleep recordings before and after rGH therapy initiation, reaching mild impairment. The mean rGH dose was 32.3 μg/kg/(12.9-51.4), with a mean insulin-like growth factor 1 plasma level of 1.7 SDS (-1.9 to 6.6).Conclusion: Most patients with SRS present with SDB with an obstructive profile, possibly explained by narrowing of the airways and lymphoid organ hypertrophy. We recommend systematic ear-nose-throat evaluation of SRS patients and PSG if there are clinical anomalies, preferably before initiating rGH therapy, to monitor and adapt the management of patients with SDB. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results