المؤلفون: Grandin, Virginie, Sepulveda, Fernando, Lambert, Nathalie, Al Zahrani, Mofareh, Al Idrissi, Eman, Al-Mousa, Hamoud, Almanjomi, Fahd, Al-Ghonaium, Abdulaziz, K Habazi, Murad, Alghamdi, Hamza, A, Picard, Capucine, Bôle-Feysot, Christine, Nitschke, Patrick, Ménasché, Gaël, de Saint Basile, Geneviève

المساهمون: Centre d’Etudes des Déficits Immunitaires (CHU Necker - Enfants Malades AP-HP ), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (USPC), Allergy and Immunology Section Riyadh, Saudi Arabia (Children Specialized Hospital), King Fahad Medical City Riyadh, Saudi Arabia, Département d'Immunologie, hématologie et rhumatologie pédiatriques Hôpital Necker-Enfants malades - APHP, Plateforme de Génomique de la Fondation Imagine Paris, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Plateforme de bioinformatique (UNIV Paris Descartes), Université Paris Descartes - Paris 5 (UPD5), Contract grant sponsors: French National Institute of Health and Medical Research (INSERM), the Agence National de la Recherche (ANR) (HLH-Cytotox/ANR-12-BSV1-0020-01), the Fondation Imagine-Institut des Maladies Génétiques., ANR-12-BSV1-0020,HLH-cytotox,Bases moléculaires et physiopathologie des syndromes hémophagocytaires(2012)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: Griscelli syndrome, RAB27A, founder effect, gene duplication, [SDV]Life Sciences [q-bio], [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/28585352; PUBMED: 28585352

الاتاحة: https://inserm.hal.science/inserm-02440257
https://inserm.hal.science/inserm-02440257v1/document
https://inserm.hal.science/inserm-02440257v1/file/Grandin_et_al-2017-Human_Mutation.pdf
https://doi.org/10.1002/humu.23274

المؤلفون: Prando, Carolina, Samarina, Arina, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Cobat, Aurelie, Picard, Capucine, AlSum, Zobaida, Al-Jumaah, Suliman, Al-Hajjar, Sami, Frayha, Husn, Al-Mousa, Hamoud, Ben-Mustapha, Imen, Adimi, Parisa, Feinberg, Jacqueline, de Suremain, Maylis, Jannière, Lucile, Filipe-Santos, Orchidée, Mansouri, Nahal, Stephan, Jean-Louis, Nallusamy, Revathy, Kumararatne, Dinakantha S., Bloorsaz, Mohamad Reza, Ben-Ali, Meriem, Elloumi-Zghal, Houda, Chemli, Jalel, Bouguila, Jihene, Bejaoui, Mohamed, Alaki, Emadia, AlFawaz, Tariq S., Al Idrissi, Eman, ElGhazali, Gehad, Pollard, Andrew J., Murugasu, Belinda, Wah Lee, Bee, Halwani, Rabih, Al-Zahrani, Mohammed, Al Shehri, Mohammed A., Al-Zahrani, Mofareh, Bin-Hussain, Ibrahim, Mahdaviani, Seyed Alireza, Parvaneh, Nima, Abel, Laurent, Mansouri, Davood, Barbouche, Ridha, Al-Muhsen, Saleh, Casanova, Jean-Laurent

المصدر: Medicine

مصطلحات موضوعية: Adult, Male, Tunisia, Adolescent, Interleukin-12 Subunit p40, DNA Mutational Analysis, Infant, Mycobacterium Infections, Nontuberculous, Penetrance, Survival Analysis, Founder Effect, Cohort Studies, Young Adult, Child, Preschool, Salmonella Infections, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Asia, Western, Humans, Original Study, Female, Genetic Predisposition to Disease, Age of Onset, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::44cef032d6777f51c668b07024c7400b
http://europepmc.org/articles/PMC3822760

المؤلفون: Al-Mousa, Hamoud, Abouelhoda, Mohamed, Monies, Dorota M., Al-Tassan, Nada, Al-Ghonaium, Abdulaziz, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Al-Muhsen, Saleh, Ades, Nazema, Elshorbagi, Sahar, Al Gazlan, Sulaiman, Sheikh, Farrukh, Dasouki, Majed, El-Baik, Lina, Elamin, Tanzeil, Jaber, Amal, Kheir, Omnia, El-Kalioby, Mohamed, Subhani, Shazia, Al Idrissi, Eman, Al-Zahrani, Mofareh, Alhelale, Maryam, Alnader, Noukha, Al-Otaibi, Afaf, Kattan, Rana, Al Abdelrahman, Khalid, Al Breacan, Muna M., Bin Humaid, Faisal S., Wakil, Salma Majid, Alzayer, Fadi, Al-Dusery, Haya, Faquih, Tariq, Al-Hissi, Safa, Meyer, Brian F., Hawwari, Abbas

المساهمون: National Plan for Science, Technology and Innovation, King Abdulaziz City for Science and Technology

المصدر: Journal of Allergy and Clinical Immunology ; volume 137, issue 6, page 1780-1787 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2015.12.1310
https://api.elsevier.com/content/article/PII:S0091674916001056?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674916001056?httpAccept=text/plain

المؤلفون: Prando, Carolina, Samarina, Arina, Bustamante, Jacinta, Boisson-Dupuis, Stephanie, Cobat, Aurélie, Picard, Capucine, Alsum, Zobaida, Al-Jumaah, Suliman, Al-Hajjar, Sami, Frayha, Husn, Al-Mousa, Hamoud, Ben-Mustapha, Imen, Adimi, Parisa, Feinberg, Jacqueline, Suremain, Maylis, De, Janniere, Lucile, Filipe-Santos, Orchidée, Mansouri, Nahal, Stephan, Jean-Louis, Nallusamy, Revathy, Kumararatne, Dinakantha S., Bloorsaz, Mohamad Reza, Ben-Ali, Meriem, Elloumi-Zghal, Houda, Chemli, Jalel, Bouguila, Jihène, Béjaoui, Mohamed, Alaki, Emadia, Alfawaz, Tariq S., Al Idrissi, Eman, Elghazali, Gehad, Pollard, Andrew J., Murugasu, Belinda, Lee, Bee Wah, Halwani, Rabih, Al-Zahrani, Mohammed, Al Shehri, Mohammed A., Al-Zahrani, Mofareh, Bin-Hussain, Ibrahim, Mahdaviani, Seyed Alireza, Parvaneh, Nima, Abel, Laurent, Mansouri, Davood, Barbouche, Mohamed-Ridha, Al-Muhsen, Saleh, Casanova, Jean-Laurent

المساهمون: Rockefeller University New York, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'immuno-hématologie pédiatrique CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, King Saud University Riyadh (KSU), King Faisal Specialist Hospital and Research Center, Institut Pasteur de Tunis, Pasteur Network (Réseau International des Instituts Pasteur), Shahid Beheshti University of Medical Sciences Tehran (SBUMS), Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Pediatrie, Université Jean Monnet - Saint-Étienne (UJM), Department of Pediatrics, Penang Medical College, Addenbrookes Hospital, Shahid Beheshti University, Sahloul Hospital, Hôpital Farhat Hached Sousse, Bone Marrow Transplantation Center, King Fahad Med City, Dept Pediat, Univ Oxford, NIHR Oxford Biomed Res Ctr, Childrens Hosp, Dept Paediat, National University of Singapore (NUS), Secur Forces Hosp, Dept Pediat, King Fahad Medical City, Univ Tehran Med Sci, Pediat Infect Dis Res Ctr, Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), The Laboratory of Human Genetics of Infectious Diseases is supported by institutional grants to INSERM and The Rockefeller University, and grants from the Agence Nationale de la Recherche (ANR), the European Union HOMITB (E08153KK) and NEOTIM (018736), the St. Giles Foundation, the Thrasher Research Fund, the Jeffrey Modell Foundation, Talecris Biotherapeutics, National Institutes of Health (1R01AI089970-01), European Project: 200732,EC:FP7:HEALTH,FP7-HEALTH-2007-A,HOMITB(2008), European Project: 33419,NEOTIM

المصدر: ISSN: 0025-7974.

مصطلحات موضوعية: MESH: Adolescent, MESH: Adult, MESH: Mycobacterium Infections, Nontuberculous, MESH: Penetrance, MESH: Survival Analysis, MESH: Salmonella Infections, MESH: Tunisia, MESH: Age of Onset, MESH: Young Adult, MESH: Asia, Western, MESH: Child, Preschool, MESH: DNA Mutational Analysis, MESH: Cohort Studies, MESH: Female, MESH: Genetic Predisposition to Disease, MESH: Founder Effect, MESH: Humans, MESH: Infant, MESH: Interleukin-12 Subunit p40, MESH: Male, [SDV]Life Sciences [q-bio], [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/23429356; info:eu-repo/grantAgreement/EC/FP7/200732/EU/Host and microbial molecular dissection of pathogenesis and immunity in tuberculosis/HOMITB; info:eu-repo/grantAgreement//33419/EU/Innate and adaptive immunity in clinical and experimental mycobacterial infection in neonates and infants/NEOTIM; PUBMED: 23429356

الاتاحة: https://riip.hal.science/pasteur-01375115
https://doi.org/10.1097/MD.0b013e31828a01f9

المؤلفون: Al-Hussaini, Abdulrahman, Al-Idressi, Eman, Al-Zahrani, Mofareh

المصدر: Journal of Gastroenterology ; volume 48, issue 11, page 1205-1212 ; ISSN 0944-1174 1435-5922

الاتاحة: http://dx.doi.org/10.1007/s00535-012-0741-6
http://link.springer.com/content/pdf/10.1007/s00535-012-0741-6.pdf
http://link.springer.com/article/10.1007/s00535-012-0741-6/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00535-012-0741-6