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Informations du chercheur

Nom complet

ABOUSSAIR NISRINE

Grade

PES

Spécialité

Génétique

Thématique de recherche

Maladies génétiques/RARES

Laboratoire

Laboratoire DE RECHERCHE L'ENFANCE, LA SANTE ET LE DEVELOPPEMENT DURABLE

Établissement

Non spécifié

Ouvrages (0 au total)

Aucun ouvrage disponible.

Projets (0 au total)

Aucun projet disponible.

Publications (22 au total)

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling

Auteur: Mansouri M1,6*, Smol T2 , Louhabe N3 , Rama M2 , Rada N4 , Fdil N5 , Bouskraoui M4 , Aboussair N1,6

Revue: Balkan Journal of Medical Genetics

Année: 2025

DOI: DOI: 10.2478/bjmg-2025-0002

Phenotype and molecular characterization of Wilson's disease in Morocco

Auteur: Nadia Abbassi 1, Aicha Bourrahouat 2, Eduardo Couchonnal Bedoya 3, Cécile Pagan 4, Meriem El Qabli 5, Sana Maidoumi 6, Abdelouahed Belmalih 7, Olivier Guillaud 8, Najib Kissani 9, Abdelhak Abkari 10, Imane Chahid 10, Mohammed Abdoh Rafai 11, Nezha Mouane 12, Yamna Kriouile 12, Saadia Aidi 13, Moustpha Hida 14, Mounia Lakhdar Idrissi 14, Mohammed Faouzi Belahsen 15, Mohammed El Abkari 16, Maria Rkain 17, Zahi Ismaili 18, Azeddine Sedki 6, Muriel Bost 19, Nisrine Aboussair 20, Alain Lachaux 21 Affiliations Expand

Revue: Clin Res Hepatol Gastroenterol .

Année: 2024

DOI: 10.1016/j.clinre.2024.102335

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS

Auteur: Miloud Hammoud 1,2,† , María Domínguez-Ruiz 3,4,† , Imane Assiri 1,2, Daniel Rodrigues 5,6 , Nisrine Aboussair 7 , Val F. Lanza 8,9, Jesús Villarrubia 10,11, Cristóbal Colón 5,6 , Naima Fdil 1,2 and Francisco J. del Castillo 3,4,

Revue: Genes 2024

Année: 2024

DOI: https://www.mdpi.com/2073-4425/15/12/1515

Phenotypic and cytogenetic variability of patau syndrome in Morocco

Auteur: Hammou Hanane Ait, Sennaoui Mariam, Bouzid Fatimazahra, Dafir Kenza, Qabli Meriem El, Akallakh Hassan, Mansouri Maria, Maoulainine Fadl Mrabih Rabou, Bouskraoui Mohammed, Aboussair Nisrine

Revue: African Health Sciences

Année: 2023

DOI: 10.4314/ahs.v23i4.60

Syndrome de Williams-Beuren: étude rétrospective d’une série de 11 cas du Centre Hospitalier Universitaire Mohammed VI de Marrakech

Auteur: Nisrine Aboussair, Fatima Zahrae Bouzid, Hanane Ait Hammou, Hassan Akallakh, Kenza Dafir, Mariam Tajir

Revue: The Pan African Medical Journal

Année: 2023

DOI: 10.11604/pamj.2023.46.94.29604

Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients

Auteur: Karima Lafhal, Es-said Sabir, Abdelmalek Hakmaoui, Miloud Hammoud, Abdelmohcine Aimrane, Samira Najeh, Imane Assiri, Abdelaati Berrachid, Najwa Imad, Chaima Ait Boujemaa, Faissal Aziz, Fatima Zahra El Hanafi, Abdessamad Lalaoui, Hasna Aamri, Iryna Boyko, Ana Sánchez-Monteagudo, Carmen Espinós, Imane Ait Sab, Nisrine Aboussair, Aicha Bourrahouat, Naima Fdil

Revue: Molecular Genetics and Metabolism Reports

Année: 2023

DOI: 10.1016/j.ymgmr.2023.100984

Focal Dermal Hypoplasia

Auteur: Maria Mansouri, Fatima Zohra Bouzid, Said. Amal, Oufae Hocar, Nissrine Aboussair

Revue: Indian Journal of Dermatology

Année: 2023

DOI: 10.4103/ijd.ijd_508_22

Clinical and Radiological Aspects of Pycnodysostosis: 1st Series of the Genetics Department of the Mohammed VI University Hospital of Marrakech

Auteur: undefined undefined, Kenza Dafir, Fatima Zahrae Bouzid, Maria Mansouri, Hassan Akallakh, Imane Ait Sab, Mohammed Bouskraoui, Nisrine Aboussair

Revue: Journal of Medical Sciences and Health

Année: 2023

DOI: 10.46347/jmsh.v9i3.23.189

Achondroplasia: First serie of Genetic Department of Mohammed VI university medical center in Marrakech

Auteur: Loubna SOUFIAN−Meriem El Qabli+Abdelmajid MOUSSAOUI+Maria MANSOURI+Nisrine ABOUSSAIR+

Revue: (IJRE) International Journal of Research and Ethics (ISSN 2665-7481)

Année: 2022

DOI: https://doi.org/10.51766/ijre.v5i2.177

Communications (132 au total)

Acute Myeloid Leukemia: Series study of cases addressed to the genetic department of Mohammed VI University Hospital of Marrakech

Manifestation: 2nd International Scientific Conference for Research and Ethics

Date: 19-20 Avril 2019

Organisation: Taroudant

Molecular diagnosis of spinal muscular atrophy by PCR-RFLP : first series of the genetics department of the Mohammed VI University Hospital of Marrakech

Manifestation: First International Congress of the Moroccan Society of Genomic and Human Genetics and the third edition of the School of immunogenetics 19-21 December 2019

Date: 2019-12-19

Organisation: Agadir

Next generation sequencing in the exploration of familial breast and or ovarian cancer

Manifestation: The 6th Congress of the Congress of the African Federation of Clinical Chemistry and Laboratory Medicine , Marrakech September , 28th 2019

Date: 2019-09-28

Organisation: Marrakech

The JAK2V617F mutation in Philadelphia-Negative Myeloproliferative Disorders : First series of the genetics department, Mohammed VI University Hospital of Marrakech

Manifestation: 2nd International Scientific Conference for Research and Ethics

Date: 2019-04-19

Organisation: Taroudant

Aspects cytogénétiques de la Leucémie aigue myéloïde: A propos de87 cas

Manifestation: 9èmes Assises de Génétique Humaine et Médicale

Date: 2018-01-23

Organisation: Le Centre des Congrès de Nantes - Nantes

Dysplasie Diastrophique : Première série marocaine colligée au CHU de Marrakech

Manifestation: 9èmes Assises de Génétique Humaine et Médicale

Date: 2018-01

Organisation: Le Centre des Congrès de Nantes - Nantes