Cargando…

Novel gene mutations underlying two new cases of ALPS 0 syndrome

Detalles Bibliográficos
Autores principales:	Barbouche, MR, Ben Mustapha, I, Dhouib, N, Mattoussi, N, Riahi, R, Larguèche, B, Ben Becheur, S, Béjaoui, M
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Lecture Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3019458/

Ejemplares similares

Molecular basis of primary immune deficiencies in a highly inbred population
por: Barbouche, MR, et al.
Publicado: (2011)

Case Report: FOXP3 Mutation in a Patient Presenting With ALPS
por: Rais, Afef, et al.
Publicado: (2021)

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children
por: Dhouib, Naouel Guirat, et al.
Publicado: (2018)

Oral HPV infection and MHC class II deficiency (A study of two cases with atypical outcome)
por: Guirat-Dhouib, Naouel, et al.
Publicado: (2012)

Mutations in the Fas gene found in Spanish ALPS (autoimmune lymphoproliferative syndrome) patients
por: Martínez-Martínez, L, et al.
Publicado: (2010)

Two novel frame shift, recurrent and de novo mutations in the ITGB2 (CD18) gene causing leukocyte adhesion deficiency in a highly inbred North African population
por: Fathallah, D. M, et al.
Publicado: (2001)

Post-transcriptional modifications caused by TDP-43 mutations in mouse and man
por: Fratta, Pietro
Publicado: (2015)

Elucidating the mechanisms underlying Alzheimer's disease-associated genetic polymorphisms
por: Estus, Steven
Publicado: (2012)

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
por: Palmisani, Elena, et al.
Publicado: (2023)

Epigenetic gambling & epigenetic drift as potential mechanisms underlying the quasi-stochastic distributions of late life neurodegenerative disorders
por: Martin, George M
Publicado: (2012)

Do scars caused by past history of Leishmania major infection may harbor persistent parasites?
por: Sghaier, Rabiaa Manel, et al.
Publicado: (2011)

Two steps forward, one step back: successes and failures in structure-based discovery of GPCR ligands
por: Carlsson, Jens
Publicado: (2015)

Application of personal-oriented digital technology in preventing transmission of COVID-19, China
por: Pan, Xiao-Ben
Publicado: (2020)

Role of amyloid precursor protein (APP) in regulation of neuronal genes
por: Nalivaeva, Natalia N.
Publicado: (2015)

Is there any chance for microsurgical reconstructions in elderly?
por: Ribuffo, D, et al.
Publicado: (2010)

Osteomyelitis in elderly patients
por: Romanò, C L, et al.
Publicado: (2010)

Leishmania infantum LeIF protein is an eIF4A-like RNA helicase that modulates interleukin IL-12p70, IL-10 and TNF-α production in human monocytes
por: Barhoumi, Mourad, et al.
Publicado: (2011)

Development of a cell-based high throughput assay system and IN-house image analysis software for screening of active compounds against dengue virus
por: Cruz, Deu John M, et al.
Publicado: (2011)

Presbyopia and Glaucoma: Two Diseases, One Pathophysiology? The 2017 Friedenwald Lecture
por: Kaufman, Paul L., et al.
Publicado: (2019)

Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients
por: Riahi, Zied, et al.
Publicado: (2015)

Omenn Syndrome: inflammation and autoimmunity
por: Villa, Anna
Publicado: (2011)

Hereditary colorectal cancer and Lynch syndrome
por: Rossi, Benedito M
Publicado: (2013)

Hereditary cancer syndromes: opportunities and challenges
por: Ashton-Prolla, Patricia
Publicado: (2013)

Successful treatment of fusarium solani ecthyma gangrenosum in a patient affected by leukocyte adhesion deficiency type 1 with granulocytes transfusions
por: Mellouli, Fethi, et al.
Publicado: (2010)

Tissue banking
por: Symmans, WF
Publicado: (2010)

Biomarkers for the diagnosis and prediction of therapeutic response in clinical breast cancer
por: Bartlett, J
Publicado: (2010)

Recent advances in treatment of metastatic breast cancer
por: Coleman, R
Publicado: (2010)

Diagnostics and territorial experience
por: Cestari, M
Publicado: (2010)

Personal experience on the use of PMIC
por: D’Andrea, M, et al.
Publicado: (2010)

The phlebological surgery in elderly patients
por: Botta, G, et al.
Publicado: (2010)

The card of rehabilitative appraisal hospital worker in the PMIC
por: De Buono, D
Publicado: (2010)

Health residences: legal aspects
por: Di Mizio, G, et al.
Publicado: (2010)

Clinical Trials methodology and elderly
por: Di Paola, E D, et al.
Publicado: (2010)

Rehabilitative therapy of elderly patients
por: Inzitari, M T
Publicado: (2010)

Comprehensive rehabilitation course in adult hemiplegia: evaluation value, the PMIC
por: Iocco, M
Publicado: (2010)

Osteoarthicular diseases in the elderly: the challenge of rehabilitation
por: Iocco, M
Publicado: (2010)

Strategy for the risk of fall prevention: interventions on global population; specific interventions on selected high risk population
por: Iocco, M
Publicado: (2010)

Neurological and rehabilitative problems in the demented elderly person and the web integrated organization of social and health service
por: Iocco, M
Publicado: (2010)

The physical treatment and rehabilitation of osteoporosis
por: Marchese, D
Publicado: (2010)

Hearing aids re-habilitation in aged people
por: Marciano, E
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_b1fhpe6clh5qbdvqc2e3242ugi