CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

Yazar: Nicolas, Elsa, Poitelon, Yannick, Chouery, Eliane, Salem, Nabiha, Levy, Nicolas, Mégarbané, André, Delague, Valérie
Baskı/Yayın Bilgisi 2010

VarAFT: a variant annotation and filtration system for human next generation sequencing data

Yazar: Desvignes, Jean-Pierre, Bartoli, Marc, Delague, Valérie, Krahn, Martin, Miltgen, Morgane, Béroud, Christophe, Salgado, David
Yayımlandı Nucleic Acids Res (2018)

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

Yazar: Medlej-Hashim, Myrna, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Rawashdeh, Mohammed, Lefranc, Gérard, Loiselet, Jacques, Mégarbané, André
Baskı/Yayın Bilgisi 2004

Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

Yazar: Adaimy, Lynn , Chouery, Eliane , Mégarbané, Hala , Mroueh, Salman , Delague, Valérie , Nicolas, Elsa , Belguith, Hanen , de Mazancourt, Philippe , Mégarbané, André 
Baskı/Yayın Bilgisi 2007

Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate...

Yazar: Delague, Valérie, Bareil, Corinne, Tuffery, Sylvie, Bouvagnet, Patrice, Chouery, Eliane, Koussa, Salam, Maisonobe, Thierry, Loiselet, Jacques, Mégarbané, André, Claustres, Mireille
Baskı/Yayın Bilgisi 2000

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

Yazar: Nair, Pratibha, Lama, Maher, El-Hayek, Stephany, Abou Sleymane, Gretta, Stora, Samantha, Obeid, Marc, Al-Ali, Mahmoud T., Delague, Valérie, Mégarbané, André
Yayımlandı Mol Syndromol (2019)

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

Yazar: Nair, Pratibha, El-Bazzal, Lara, Mansour, Hicham, Sabbagh, Sandra, Al-Ali, Mahmoud Taleb, Gambarini, Alicia, Delague, Valerie, El-Hayek, Stephany, Mégarbané, André
Yayımlandı J Pediatr Genet (2019)

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Yazar: 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.
Yayımlandı Am J Hum Genet (2018)

Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

Yazar: Delague, Valérie , Jacquier, Arnaud , Hamadouche, Tarik , Poitelon, Yannick , Baudot, Cécile , Boccaccio, Irène , Chouery, Eliane , Chaouch, Malika , Kassouri, Nora , Jabbour, Rosette , Grid, Djamel , Mégarbané, André , Haase, Georg , Lévy, Nicolas 
Baskı/Yayın Bilgisi 2007

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

Yazar: 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
Baskı/Yayın Bilgisi 2014

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Yazar: Jaouadi, Hager, Chehida, Amel Ben, Kraoua, Lilia, Etchevers, Heather C., Argiro, Laurent, Kasdallah, Nadia, Blibech, Sonia, Delague, Valérie, Lévy, Nicolas, Tebib, Néji, Mrad, Ridha, Abdelhak, Sonia, Benkhalifa, Rym, Zaffran, Stéphane
Yayımlandı Genet Res (Camb) (2019)

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Yazar: Chikhaoui, Asma, Elouej, Sahar, Nabouli, Imen, Jones, Meriem, Lagarde, Arnaud, Ben Rekaya, Meriem, Messaoud, Olfa, Hamdi, Yosr, Zghal, Mohamed, Delague, Valerie, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Abdelhak, Sonia, Yacoub-Youssef, Houda
Yayımlandı Front Genet (2019)

Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype

Yazar: Nabouli, Imen, Chikhaoui, Asma, Othman, Houcemeddine, Elouej, Sahar, Jones, Meriem, Lagarde, Arnaud, Rekaya, Meriem Ben, Messaoud, Olfa, Zghal, Mohamed, Delague, Valerie, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Abdelhak, Sonia, Yacoub-Youssef, Houda
Yayımlandı Front Genet (2021)

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Yazar: Ghedira, Nehla, Lagarde, Arnaud, Ben Ameur, Karim, Elouej, Sahar, Sakka, Rania, Kerkeni, Emna, Chioukh, Fatma-Zohra, Olschwang, Sylviane, Desvignes, Jean-Pierre, Abdelhak, Sonia, Delague, Valerie, Lévy, Nicolas, Monastiri, Kamel, De Sandre-Giovannoli, Annachiara
Yayımlandı BMC Pediatr (2018)

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

Yazar: 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
Yayımlandı BMJ Open (2018)

FANCA Gene Mutations in North African Fanconi Anemia Patients

Yazar: Ben Haj Ali, Abir, Messaoud, Olfa, Elouej, Sahar, Talmoudi, Faten, Ayed, Wiem, Mellouli, Fethi, Ouederni, Monia, Hadiji, Sondes, De Sandre-Giovannoli, Annachiara, Delague, Valérie, Lévy, Nicolas, Bogliolo, Massimo, Surrallés, Jordi, Abdelhak, Sonia, Amouri, Ahlem
Yayımlandı Front Genet (2021)

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

Yazar: Hoffmann, Katrin, Müller, Juliane S., Stricker, Sigmar, Megarbane, Andre, Rajab, Anna, Lindner, Tom H., Cohen, Monika, Chouery, Eliane, Adaimy, Lynn, Ghanem, Ismat, Delague, Valerie, Boltshauser, Eugen, Talim, Beril, Horvath, Rita, Robinson, Peter N., Lochmüller, Hanns, Hübner, Christoph, Mundlos, Stefan
Baskı/Yayın Bilgisi 2006

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Yazar: 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
Baskı/Yayın Bilgisi 2011

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415

Yazar: 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
Baskı/Yayın Bilgisi 2012

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

Yazar: 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
Yayımlandı BMC Med Genomics (2019)