Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men
Auguste, Yasmina, Delague, Valérie, Desvignes, Jean-Pierre, Longepied, Guy, Gnisci, Audrey, Besnier, Pierre, Levy, Nicolas, Beroud, Christophe, Megarbane, André, Metzler-Guillemain, Catherine, Mitchell, Michael J.
Published in American journal of human genetics (06.09.2018)
Published in American journal of human genetics (06.09.2018)
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Journal Article
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Journal Article
Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation
Alary, Benedicte, Cintas, Pascal, Claude, Corentin, Dellis, Olivier, Thèze, Corinne, Van Goethem, Charles, Cossée, Mireille, Krahn, Martin, Delague, Valérie, Bartoli, Marc
Published in Clinical immunology (Orlando, Fla.) (01.08.2024)
Published in Clinical immunology (Orlando, Fla.) (01.08.2024)
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Journal Article
Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1
Bos, Rémi, Rihan, Khalil, Quintana, Patrice, El-Bazzal, Lara, Bernard-Marissal, Nathalie, Da Silva, Nathalie, Jabbour, Rosette, Mégarbané, André, Bartoli, Marc, Brocard, Frédéric, Delague, Valérie
Published in Neurobiology of disease (01.03.2022)
Published in Neurobiology of disease (01.03.2022)
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Journal Article
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1
El-Bazzal, Lara, Rihan, Khalil, Bernard-Marissal, Nathalie, Castro, Christel, Chouery-Khoury, Eliane, Desvignes, Jean-Pierre, Atkinson, Alexandre, Bertaux, Karine, Koussa, Salam, Lévy, Nicolas, Bartoli, Marc, Mégarbané, André, Jabbour, Rosette, Delague, Valérie
Published in Human molecular genetics (15.07.2019)
Published in Human molecular genetics (15.07.2019)
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Journal Article
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H
El-Bazzal, Lara, Ghata, Adeline, Estève, Clothilde, Gadacha, Jihane, Quintana, Patrice, Castro, Christel, Roeckel-Trévisiol, Nathalie, Lembo, Frédérique, Lenfant, Nicolas, Mégarbané, André, Borg, Jean-Paul, Lévy, Nicolas, Bartoli, Marc, Poitelon, Yannick, Roubertoux, Pierre L, Delague, Valérie, Bernard-Marissal, Nathalie
Published in Brain (London, England : 1878) (02.05.2023)
Published in Brain (London, England : 1878) (02.05.2023)
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Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly
Marion, Vincent, Stutzmann, Fanny, Gérard, Marion, De Melo, Charlie, Schaefer, Elise, Claussmann, Aurélie, Hellé, Sophie, Delague, Valérie, Souied, Eric, Barrey, Catherine, Verloes, Alain, Stoetzel, Corinne, Dollfus, Hélène
Published in Journal of medical genetics (01.05.2012)
Published in Journal of medical genetics (01.05.2012)
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Journal Article
Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family
Charfeddine, Cherine, Dallali, Hamza, Abdessalem, Ghaith, Ghedira, Kais, Hamdi, Yosr, Elouej, Sahar, Landoulsi, Zied, Delague, Valérie, Lagarde, Arnaud, Levy, Nicolas, El-Amraoui, Aziz, Boubaker, Mohamed Samir, Abdelhak, Sonia, Mokni, Mourad
Published in Journal of human genetics (01.04.2020)
Published in Journal of human genetics (01.04.2020)
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Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young
Jaouadi, Hager, Bouyacoub, Yosra, Chabrak, Sonia, Kraoua, Lilia, Zaroui, Amira, Elouej, Sahar, Nagara, Majdi, Dallali, Hamza, Delague, Valérie, Levy, Nicolas, Benkhalifa, Rym, Mechmeche, Rachid, Zaffran, Stéphane, Abdelhak, Sonia
Published in Herz (01.04.2021)
Published in Herz (01.04.2021)
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The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
Jalkh, Nadine, Corbani, Sandra, Haidar, Zahraa, Hamdan, Nadine, Farah, Elias, Abou Ghoch, Joelle, Ghosn, Rouba, Salem, Nabiha, Fawaz, Ali, Djambas Khayat, Claudia, Rajab, Mariam, Mourani, Chebl, Moukarzel, Adib, Rassi, Simon, Gerbaka, Bernard, Mansour, Hicham, Baassiri, Malek, Dagher, Rawane, Breich, David, Mégarbané, André, Desvignes, Jean Pierre, Delague, Valérie, Mehawej, Cybel, Chouery, Eliane
Published in BMC medical genomics (21.01.2019)
Published in BMC medical genomics (21.01.2019)
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Journal Article
Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features
Jaouadi, Hager, Kraoua, Lilia, Chaker, Lilia, Atkinson, Alexandre, Delague, Valérie, Levy, Nicolas, Benkhalifa, Rym, Mrad, Ridha, Abdelhak, Sonia, Zaffran, Stéphane
Published in Journal of human genetics (01.10.2018)
Published in Journal of human genetics (01.10.2018)
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Journal Article
A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases
Salvi, Alexandra, Skrypnyk, Cristina, Da Silva, Nathalie, Urtizberea, Jon Andoni, Bakhiet, Moiz, Robert, Catherine, Lévy, Nicolas, Megarbané, André, Delague, Valérie, Bartoli, Marc
Published in Clinical genetics (01.07.2021)
Published in Clinical genetics (01.07.2021)
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Journal Article
Rigid spine syndrome associated with sensory‐motor axonal neuropathy resembling Charcot–Marie‐Tooth disease is characteristic of Bcl‐2‐associated athanogene‐3 gene mutations even without cardiac involvement
Noury, Jean‐Baptiste, Maisonobe, Thierry, Richard, Pascale, Delague, Valérie, Malfatti, Edoardo, Stojkovic, Tanya
Published in Muscle & nerve (01.02.2018)
Published in Muscle & nerve (01.02.2018)
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Journal Article
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
Mehawej, Cybel, Delahodde, Agnès, Legeai-Mallet, Laurence, Delague, Valérie, Kaci, Nabil, Desvignes, Jean-Pierre, Kibar, Zoha, Capo-Chichi, José-Mario, Chouery, Eliane, Munnich, Arnold, Cormier-Daire, Valérie, Mégarbané, André
Published in PLoS genetics (01.05.2014)
Published in PLoS genetics (01.05.2014)
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Journal Article
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA
Yoon, Grace, Delague, Valérie, Mégarbané, André, Isaya, Grazia
Published in Brain (London, England : 1878) (01.03.2016)
Published in Brain (London, England : 1878) (01.03.2016)
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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
Bacquet, Juliette, Stojkovic, Tanya, Boyer, Amandine, Martini, Nathalie, Audic, Frédérique, Chabrol, Brigitte, Salort-Campana, Emmanuelle, Delmont, Emilien, Desvignes, Jean-Pierre, Verschueren, Annie, Attarian, Shahram, Chaussenot, Annabelle, Delague, Valérie, Levy, Nicolas, Bonello-Palot, Nathalie
Published in BMJ open (28.10.2018)
Published in BMJ open (28.10.2018)
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Journal Article
Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin
Mehawej, Cybel, Chouery, Eliane, Al Hage Chehade, Ghada, Bejaoui, Yosra, Mahfoud, Daniel, Gerges, Maya, Delague, Valérie, El Hajj, Nady, Megarbane, Andre
Published in Molecular syndromology (01.06.2023)
Published in Molecular syndromology (01.06.2023)
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Journal Article
Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia
Adaimy, Lynn, Chouery, Eliane, Mégarbané, Hala, Mroueh, Salman, Delague, Valérie, Nicolas, Elsa, Belguith, Hanen, de Mazancourt, Philippe, Mégarbané, André
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
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Journal Article
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
Jobling, Rebekah K, Assoum, Mirna, Gakh, Oleksandr, Blaser, Susan, Raiman, Julian A, Mignot, Cyril, Roze, Emmanuel, Dürr, Alexandra, Brice, Alexis, Lévy, Nicolas, Prasad, Chitra, Paton, Tara, Paterson, Andrew D, Roslin, Nicole M, Marshall, Christian R, Desvignes, Jean-Pierre, Roëckel-Trevisiol, Nathalie, Scherer, Stephen W, Rouleau, Guy A, Mégarbané, André, Isaya, Grazia, Delague, Valérie, Yoon, Grace
Published in Brain (London, England : 1878) (01.06.2015)
Published in Brain (London, England : 1878) (01.06.2015)
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