Works by Delague, Valerie

Results: 40

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 73, doi. 10.1007/s10048-010-0256-3

By:

Chouery, Eliane;
Delague, Valérie;
Jalkh, Nadine;
Salem, Nabiha;
Kfoury, Jessy;
Rodriguez, Diana;
Chabrol, Brigitte;
Boespflug-Tanguy, Odile;
Lévy, Nicolas;
Serre, Jean;
Mégarbané, André

Publication type:

Article

Mutations in TREM2 lead to pure early-onset dementia without bone cysts.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. E194, doi. 10.1002/humu.20836

By:

Chouery, Eliane;
Delague, Valérie;
Bergougnoux, Anne;
Koussa, Salam;
Serre, Jean-Louis;
Mégarbané, André

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1107, doi. 10.1038/ejhg.2010.82

By:

Nicolas, Elsa;
Poitelon, Yannick;
Chouery, Eliane;
Salem, Nabiha;
Levy, Nicolas;
Mégarbané, André;
Delague, Valérie

Publication type:

Article

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 391, doi. 10.1038/sj.ejhg.5200813

By:

Medlej-Hashim, Myrna;
Mustapha, Mirna;
Chouery, Eliane;
Weil, Dominique;
Parronaud, Joel;
Salem, Nabiha;
Delague, Valerie;
Loiselet, Jacques;
Lathrop, Mark;
Petit, Christine;
Megarbane, Andre

Publication type:

Article

Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 849, doi. 10.1038/sj.ejhg.5200725

By:

Medlej-Hashim, Myrna;
Petit, Isabelle;
Adib, Salim;
Chouery, Eliane;
Salem, Nabiha;
Delague, Valérie;
Rawashdeh, Mohammed;
Mansour, Issam;
Lefranc, Gérard;
Naman, Roger;
Loiselet, Jacques;
Lecron, Jean-Claude;
Serre, Jean-Louis;
Mégarbané, André

Publication type:

Article

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 51, doi. 10.1038/sj.ejhg.5200574

By:

Mansour, Issam;
Delague, Valérie;
Cazeneuve, Cécile;
Dodé, Catherine;
Chouery, Eliane;
Pêcheux, Christophe;
Medlej-Hashim, Myrna;
Salem, Nabiha;
El Zein, Loubna;
Levan-Petit, Isabelle;
Lefranc, Gérard;
Goossens, Michel;
Delpech, Marc;
Amselem, Serge;
Loiselet, Jacques;
Grateau, Gilles;
Mégarbane, André;
Naman, Roger

Publication type:

Article

X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 9, p. 704

By:

Mégarbané, André;
Salem, Nabiha;
Stephan, Edouard;
Ashoush, Ramzi;
Lenoir, Didier;
Delague, Valérie;
Kassab, Roland;
Loiselet, Jacques;
Bouvagnet, Patrice

Publication type:

Article

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

Published in:

2012

By:

Baudot, Cécile;
Esteve, Clothilde;
Castro, Christel;
Poitelon, Yannick;
Mas, Camille;
Hamadouche, Tarik;
El-Rajab, Maryam;
Lévy, Nicolas;
Megarbané, André;
Delague, Valérie

Publication type:

Journal Article

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

Published in:

Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 141, doi. 10.1111/j.1529-8027.2012.00405.x

By:

Baudot, Cécile;
Esteve, Clothilde;
Castro, Christel;
Poitelon, Yannick;
Mas, Camille;
Hamadouche, Tarik;
El-Rajab, Maryam;
Lévy, Nicolas;
Megarbané, André;
Delague, Valérie

Publication type:

Article

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2378, doi. 10.1093/hmg/ddz060

By:

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

Publication type:

Article

HINT1 neuropathy: Expanding the genotype and phenotype spectrum.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 379, doi. 10.1111/cge.14198

By:

Morel, Victor;
Campana‐Salort, Emmanuelle;
Boyer, Amandine;
Esselin, Florence;
Walther‐Louvier, Ulrike;
Querin, Giorgia;
Latour, Philippe;
Lia, Anne‐Sophie;
Magdelaine, Corinne;
Beze‐Beyrie, Pierre;
Behin, Anthony;
Delague, Valérie;
Levy, Nicolas;
Stojkovic, Tanya;
Attarian, Shahram;
Bonello‐Palot, Nathalie

Publication type:

Article

A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 84, doi. 10.1111/cge.13959

By:

Salvi, Alexandra;
Skrypnyk, Cristina;
Da Silva, Nathalie;
Urtizberea, Jon Andoni;
Bakhiet, Moiz;
Robert, Catherine;
Lévy, Nicolas;
Megarbané, André;
Delague, Valérie;
Bartoli, Marc

Publication type:

Article

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1865, doi. 10.1002/ajmg.a.61730

By:

Mégarbané, André;
Hana, Sayeeda;
El‐Hayek, Stephany;
Gambarini, Alicia;
Al‐Ali, Mahmoud Taleb;
Delague, Valérie

Publication type:

Article

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1844, doi. 10.1093/brain/awac402

By:

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

Publication type:

Article

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Published in:

2016

By:

Yoon, Grace;
Delague, Valérie;
Mégarbané, André;
Isaya, Grazia

Publication type:

commentary

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Published in:

2016

By:

Choquet, Karine;
Zurita-Rendón, Olga;
La Piana, Roberta;
Sharon Yang;
Dicaire, Marie-Joseè;
Boycott, Kym M.;
Majewski, Jacek;
Shoubridge, Eric A.;
Brais, Bernard;
Tètreault, Martine;
Yoon, Grace;
Delague, Valèrie;
Mègarbane, Andrè;
Isaya, Grazia;
Yang, Sharon;
Dicaire, Marie-Josée;
Care4Rare Consortium;
Tétreault, Martine

Publication type:

Case Study

Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 328, doi. 10.1007/s004390100496

By:

Bareil, Corinne;
Hamel, Christian P.;
Delague, Valérie;
Arnaud, Bernard;
Demaille, Jacques;
Claustres, Mireille

Publication type:

Article

Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous lebanese family.

Published in:

Annals of Neurology, 2001, v. 50, n. 2, p. 250, doi. 10.1002/ana.1286

By:

Delague, Valérie;
Bareil, Corinne;
Bouvagnet, Patrice;
Salem, Nabiha;
Chouery, Eliane;
Loiselet, Jacques;
Mégarbané, André;
Claustres, Mireille

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.650639

By:

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

Publication type:

Article

FANCA Gene Mutations in North African Fanconi Anemia Patients.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.610050

By:

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

Publication type:

Article

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.

Published in:

Herz (0340-9937), 2021, v. 46, p. 94, doi. 10.1007/s00059-019-04883-1

By:

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

Publication type:

Article

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

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000041

By:

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

Publication type:

Article

A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family.

Published in:

Annals of Human Genetics, 2013, v. 77, n. 4, p. 336, doi. 10.1111/ahg.12017

By:

Boubaker, Chokri;
Hsairi‐Guidara, Inès;
Castro, Christel;
Ayadi, Ines;
Boyer, Amandine;
Kerkeni, Emna;
Courageot, Joël;
Abid, Imen;
Bernard, Rafaëlle;
Bonello‐Palot, Nathalie;
Kamoun, Fatma;
Cheikh, Hassen Ben;
Lévy, Nicolas;
Triki, Chahnez;
Delague, Valérie

Publication type:

Article

Familial Mediterranean Fever In Lebanon: Founder Effects For Different MEFV Mutations.

Published in:

Annals of Human Genetics, 2008, v. 72, n. 1, p. 41, doi. 10.1111/j.1469-1809.2007.00386.x

By:

Jalkh, Nadine;
Génin, Emmanuelle;
Chouery, Eliane;
Delague, Valérie;
Medlej-Hashim, Myrna;
Idrac, Charles-Antoine;
Mégarbané, Andr;
Serre, Jean-Louis

Publication type:

Article

Behavioral and Molecular Exploration of the AR-CMT2A Mouse Model Lmna.

Published in:

NeuroMolecular Medicine, 2012, v. 14, n. 1, p. 40, doi. 10.1007/s12017-012-8168-z

By:

Poitelon, Yannick;
Kozlov, Serguei;
Devaux, Jerôme;
Vallat, Jean-Michel;
Jamon, Marc;
Roubertoux, Pierre;
Rabarimeriarijaona, Sitraka;
Baudot, Cécile;
Hamadouche, Tarik;
Stewart, Colin;
Levy, Nicolas;
Delague, Valérie

Publication type:

Article

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

Published in:

NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 87, doi. 10.1385/NMM:8:1-2:87

By:

Bernard, Rafaëlle;
Sandre-Giovannoli, Annachiara;
Delague, Valérie;
Lévy, Nicolas

Publication type:

Article

Rigid spine syndrome associated with sensory‐motor axonal neuropathy resembling Charcot–Marie‐Tooth disease is characteristic of <italic>Bcl‐2‐associated athanogene‐3</italic> gene mutations even without cardiac involvement

Published in:

2018

By:

Noury, Jean‐Baptiste;
Maisonobe, Thierry;
Richard, Pascale;
Delague, Valérie;
Malfatti, Edoardo;
Stojkovic, Tanya;
Noury, Jean-Baptiste

Publication type:

journal article

First characterization of congenital myasthenic syndrome type 5 in North Africa.

Published in:

Molecular Biology Reports, 2021, v. 48, n. 10, p. 6999, doi. 10.1007/s11033-021-06530-7

By:

Khaoula, Rochdi;
Cerino, Mathieu;
Da Silva, Nathalie;
Delague, Valerie;
Nahili, Halima;
Kriouile, Yamna;
Gorokhova, Svetlana;
Bartoli, Marc;
Saïle, Rachid;
Barakat, Abdelhamid;
Krahn, Martin

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2018, v. 46, n. W1, p. W545, doi. 10.1093/nar/gky471

By:

Desvignes, Jean-Pierre;
Bartoli, Marc;
Delague, Valérie;
Krahn, Martin;
Miltgen, Morgane;
Béroud, Christophe;
Salgado, David

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00111

By:

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

Publication type:

Article

Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 219, doi. 10.1159/000527215

By:

Mehawej, Cybel;
Chouery, Eliane;
Al Hage Chehade, Ghada;
Bejaoui, Yosra;
Mahfoud, Daniel;
Gerges, Maya;
Delague, Valérie;
El Hajj, Nady;
Megarbane, Andre

Publication type:

Article

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.

Published in:

Molecular Syndromology, 2021, v. 12, n. 6, p. 342, doi. 10.1159/000517253

By:

Mégarbané, André;
Hana, Sayeeda;
Mégarbané, Hala;
Castro, Christel;
Baulande, Sylvain;
Criqui, Audrey;
Roëckel-Trevisiol, Nathalie;
Dagher, Christel;
Al-Ali, Mahmoud Taleb;
Desvignes, Jean-Pierre;
Mahfoud, Daniel;
El-Hayek, Stephany;
Delague, Valérie

Publication type:

Article

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

Published in:

Molecular Syndromology, 2018, v. 9, n. 6, p. 319, doi. 10.1159/000494465

By:

Nair, Pratibha;
Lama, Maher;
El-Hayek, Stephany;
abou Sleymane, Gretta;
Stora, Samantha;
Obeid, Marc;
al-ali, Mahmoud T.;
Delague, Valérie;
Mégarbané, andré

Publication type:

Article

Endophilin A2 Deficiency Impairs Antibody Production in Humans.

Published in:

Journal of Clinical Immunology, 2024, v. 45, n. 1, p. 1, doi. 10.1007/s10875-024-01827-1

By:

Mehawej, Cybel;
Chouery, Eliane;
Farah, Roula;
Khalil, Alia;
Hachem, Setrida El;
Corbani, Sandra;
Delague, Valerie;
Mansour, Issam;
Najemdeen, Tarek;
Korban, Rima;
Faour, Wissam H.;
Lefranc, Gerard;
Megarbane, Andre

Publication type:

Article

W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 583, doi. 10.1002/1098-1004(200006)15:6<583::AID-HUMU24>3.0.CO;2-X

By:

Bareil, Corinne;
Delague, Valérie;
Arnaud, Bernard;
Demaille, Jacques;
Hamel, Christian;
Claustres, Mireille

Publication type:

Article

Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 384, doi. 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U

By:

Medlej-Hashim, Myrna;
Rawashdeh, Mohammed;
Chouery, Eliane;
Mansour, Issam;
Delague, Valérie;
Lefranc, Gérard;
Naman, Roger;
Loiselet, Jacques;
Mégarbané, André

Publication type:

Article

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 455, doi. 10.1007/s00439-019-02003-x

By:

Correard, Solenne;
Plassais, Jocelyn;
Lagoutte, Laëtitia;
Botherel, Nadine;
Thibaud, Jean-Laurent;
Hédan, Benoît;
Richard, Laurence;
Lia, Anne-Sophie;
Delague, Valérie;
Mège, Catherine;
Mathis, Stéphane;
Guaguère, Eric;
Paradis, Manon;
Vallat, Jean-Michel;
Quignon, Pascale;
André, Catherine

Publication type:

Article

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

Published in:

2018

By:

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

Publication type:

journal article

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

Published in:

BMC Medical Genetics, 2004, v. 5, p. 1

By:

Medlej-Hashim, Myrna;
Delague, Valérie;
Chouery, Eliane;
Salem, Nabiha;
Rawashdeh, Mohammed;
Lefranc, Gérard;
Loiselet, Jacques;
Mégarbané, André

Publication type:

Article

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

Published in:

PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004311

By:

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

Publication type:

Article