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

 Alexandra Salvi , Skrypnyk Cristina , Nathalie da Silva , Jon Andoni Urtizberea , Bakhiet Moiz , et al.
Clinical Genetics, In press
Article dans une revue hal-03184458v2

Population structure in the Méditerranean basin: a Y chromosome perspective

 Claudio Capelli , N. Redhead , V. Romano , F. Cali , G. Lefranc , et al.
Annals of Human Genetics, 2006, 70, pp.207-225. ⟨10.1111/j.1529-8817.2005.00224.x⟩
Article dans une revue hal-00082362v1
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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

 Andre Megarbane , Sami Bizzari , Asha Deepthi , Sandra Sabbagh , Hicham Mansour , et al.
Journal of Neuromuscular Diseases, 2022, 9 (1), pp.193-210. ⟨10.3233/JND-210652⟩
Article dans une revue hal-03538650v1
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Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder

 Khaoula Rochdi , Mathieu Cerino , Nathalie da Silva , Valérie Delague , Aymane Bouzidi , et al.
Clinica Chimica Acta, 2022, 524, pp.51-58. ⟨10.1016/j.cca.2021.11.020⟩
Article dans une revue hal-03678846v1
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First characterization of congenital myasthenic syndrome type 5 in North Africa

 Rochdi Khaoula , Mathieu Cerino , Nathalie da Silva , Valérie Delague , Halima Nahili , et al.
2024
Pré-publication, Document de travail hal-03662463v1
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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

 Juliette Bacquet , Tanya Stojkovic , Amandine Boyer , Nathalie Martini , Frédérique Audic , et al.
BMJ Open, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩
Article dans une revue hal-01984168v1
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Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

 Rémi Bos , Khalil Rihan , Patrice Quintana , Lara El-Bazzal , Nathalie Bernard-Marissal , et al.
Neurobiology of Disease, 2022, 164, pp.105609. ⟨10.1016/j.nbd.2021.105609⟩
Article dans une revue hal-03520705v1
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FANCA Gene Mutations in North African Fanconi Anemia Patients

 Abir Ben Haj Ali , Olfa Messaoud , Sahar Elouej , Faten Talmoudi , Wiem Ayed , et al.
Frontiers in Genetics, 2021, 12, pp.610050. ⟨10.3389/fgene.2021.610050⟩
Article dans une revue pasteur-03546883v1

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

 Cécile Baudot , Clothilde Esteve , Christel Castro , Yannick Poitelon , Camille Mas , et al.
Journal of the Peripheral Nervous System, 2012, 17 (2), pp.141 - 146. ⟨10.1111/j.1529-8027.2012.00405.x⟩
Article dans une revue istex hal-01721501v1

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

 Jean-Baptiste Noury , Thierry Maisonobe , Pascale Richard , Valérie Delague , Edoardo Malfatti , et al.
Muscle & nerve. Supplement., 2018, 57 (2), pp.330 - 334. ⟨10.1002/mus.25631⟩
Article dans une revue hal-01790725v1

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

 Rémi Bos , Khalil Rihan , Lara El-Bazzal , Nathalie Bernard-Marissal , Patrice Quintana , et al.
2021
Pré-publication, Document de travail hal-03411458v1
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Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!

 Cybel Mehawej , Eliane Chouery , Ghada Al Hage Chehade , Yosra Bejaoui , Daniel Mahfoud , et al.
Molecular Syndromology, 2023, 14 (3), pp.219-224. ⟨10.1159/000527215⟩
Article dans une revue hal-04254106v1

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

 Grace Yoon , Valérie Delague , André Mégarbané , Grazia Isaya
Brain - A Journal of Neurology , 2016, 139 (3), ⟨10.1093/brain/awv363⟩
Article dans une revue hal-01469050v1
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Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

 Sami Bizzari , Lara El-Bazzal , Pratibha Nair , Antoine Younan , Samantha Stora , et al.
European Journal of Medical Genetics, 2020, 63 (5), pp.103869. ⟨10.1016/j.ejmg.2020.103869⟩
Article dans une revue hal-02550686v1
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BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

 Camille Engel , Stephanie Valence , Geoffroy Delplancq , Reza Maroofian , Andrea Accogli , et al.
European Journal of Human Genetics, 2023, 31 (9), pp.1023-1031. ⟨10.1038/s41431-023-01410-z⟩
Article dans une revue hal-04254205v1
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Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

 Nehla Ghedira , Arnaud Lagarde , Karim Ben Ameur , Sahar Elouej , Rania Sakka , et al.
BMC Pediatrics, 2018, 18 (1), pp.286. ⟨10.1186/s12887-018-1259-8⟩
Article dans une revue pasteur-01882965v1
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Loss of Cajal Bodies in Motor Neurons from patients with novel mutations in VRK1

 Lara El-Bazzal , Khalil Rihan , Nathalie Bernard-Marissal , Christel Castro , Eliane Chouery-Khoury , et al.
Human Molecular Genetics, 2019, ⟨10.1093/hmg/ddz060⟩
Article dans une revue hal-02152040v1
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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

 Nadine Jalkh , Sandra Corbani , Zahraa Haidar , Nadine Hamdan , Elias Farah , et al.
BMC Medical Genomics, 2019, 12 (1), ⟨10.1186/s12920-019-0474-y⟩
Article dans une revue hal-02048914v1
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Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype

 Imen Nabouli , Asma Chikhaoui , Houcemeddine Othman , Sahar Elouej , Meriem Jones , et al.
Frontiers in Genetics, 2021, 12, pp.650639. ⟨10.3389/fgene.2021.650639⟩
Article dans une revue pasteur-03550460v1

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

 Rémi Bos , Khalil Rihan , Patrice Quintana , Lara El-Bazzal , Nathalie Bernard-Marissal , et al.
Neurobiology of Disease, 2022, 164, pp.105609. ⟨10.1016/j.nbd.2021.105609⟩
Article dans une revue hal-04323628v1

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

 Jeremie Mortreux , Juliette Bacquet , A. Boyer , E. Alazard , R. Bellance , et al.
Journal of Human Genetics, 2019, 65 (3), pp.313-323. ⟨10.1038/s10038-019-0710-5⟩
Article dans une revue hal-03147680v1
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VarAFT: a variant annotation and filtration system for human next generation sequencing data

 Jean-Pierre Desvignes , Marc Bartoli , Valérie Delague , Martin Krahn , Morgane Miltgen , et al.
Nucleic Acids Research, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩
Article dans une revue hal-01852493v1

Untitled

 N. Nadine Jalkh , Zahraa Haidar , S. Corbani , Valérie Delague , André Mégarbané , et al.
European Journal of Human Genetics, 2019, 27 (1), pp.1021
Article dans une revue hal-02461438v1
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PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

 Rebekah Jobling , Mirna Assoum , Oleksandr Gakh , Susan Blaser , Julian A Raiman , et al.
Brain - A Journal of Neurology , 2015, 138 (6), pp.1505 - 1517. ⟨10.1093/brain/awv057⟩
Article dans une revue hal-01680921v1
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Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H

 Lara El-Bazzal , Adeline Ghata , Clothilde Esteve , Jihane Gadacha , Patrice Quintana , et al.
Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac402⟩
Article dans une revue hal-03977684v1

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

 Lara El-Bazzal , Adeline Ghata , Clothilde Esteve , Jihane Gadacha , Patrice Quintana , et al.
Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac402⟩
Article dans une revue hal-04323648v1

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

 André Mégarbané , Ghassan Hmaimess , Sami Bizzari , Lara El-Bazzal , Mahmoud Taleb Al-Ali , et al.
European Journal of Medical Genetics, 2018, 62 (11), pp.103576. ⟨10.1016/j.ejmg.2018.11.010⟩
Article dans une revue hal-03147683v1
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A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

 Hager Jaouadi , Amel Ben Chehida , Lilia Kraoua , Heather Etchevers , Laurent Argiro , et al.
Genetics Research, 2019, 101, pp.e6. ⟨10.1017/S0016672319000041⟩
Article dans une revue hal-02461305v1

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

 Pratibha Nair , Sandra Sabbagh , Hicham Mansour , Ali Fawaz , Ghassan Hmaimess , et al.
Molecular Genetics & Genomic Medicine, 2018, 6 (6), pp.1041-1052
Article dans une revue hal-01984049v1

NEW MISSENSE MUTATIONS IN THE VACCINIA-RELATED KINASE 1 GENE ARE ASSOCIATED WITH AUTOSOMAL RECESSIVE AXONAL CHARCOT-MARIE-TOOTH DISEASE

 Lara El-Bazzal , Christel Castro , Nathalie Roëckel-Trevisiol , Jean-Pierre Desvignes , André Mégarbané , et al.
Journal of the Peripheral Nervous System, 2016, 21 (3), pp.251-252
Article dans une revue hal-01469080v1
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