Results 241 to 250 of about 618,834 (263)

Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry. [PDF]

Front Genet
Chavoshzadeh Z, Fallah S, Zeinali V, Sharafian S, Delavari S, Mesdaghi M, Djidjik R, Belaid B, Ikinciogullari A, Haskologlu S, Dogu F, Genel F, Gulez N, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Meric Z, Kutukculer N, Aygun A, Aksu G, Karaca NE, Geyik M, Keles S, Reisli I, Nail Guner S, Boukari R, Hakem S, Belbouab R, Barbouche MR, Ben-Mustapha I, Mekki N, Ben-Ali M, Sobh A, Elnagdy M, Djenouhat K, Tahiat A, Shendi HM, Alkuwaiti A, Nasrullayeva G, Alfars T, Alsukaiti N, Massaad M, Mehawej C, Megarbane A, Irani C, Elghazali G, Al-Tamemi S, Khalifa N, Alzyoud R, Gultekin SSK, Kose H, Khodaverdy H, Shamsian BS, Eslami N, Momen T, Sherkat R, Aleyasin S, Esmaeilzadeh H, Ahanchian H, Salami F, Fekrvand S, Dupre L, Ochs HD, Rezaei N, Al-Herz W, Abolhassani H.   +66 more
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Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. [PDF]

J Inherit Metab Dis
Moio MR, Milke JC, Moutapam-Ngamby-Adriaansen Y, Alberti AM, Gernay M, Schütz EA, Schwartz IVD, Maillot F.   +7 more
europepmc   +1 more source

Genética Médica y personalidades mundiales: personajes con enfermedades de causa genética o errores en la morfogénesis

Revista de Ciencias Médicas de Pinar del Río
Estela Morales Peralta, Miguel Alfonso Alvarez Fornaris   +1 more
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Inborn errors of immunity: an expanding universe of disease and genetic architecture

Nature Reviews Genetics, 2023
Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system.
Yemsratch T. Akalu, Dusan Bogunovic
openaire   +2 more sources

Integrated genetic databases in the study of neuropsychiatric diseases: Inborn errors of cerebral metabolic pathways?

Progress in Neuro-Psychopharmacology and Biological Psychiatry, 1991
1. Genetic databases are an expanding and readily accessible repository of information on the mapping and sequencing of the human genome, and that of other model organisms. The integration and application of this information to neuropsychiatric disease is illustrated using neuroendocrine and neuropharmacologic data, computerized and other genetic ...
M, Jaworski, E, Edwards
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Inborn errors of metabolism. Vitamin-responsive genetic disease.

Journal of clinical pathology. Supplement (Royal College of Pathologists), 1984
The several ways in which vitamin administration may bring about a biochemical response in genetic abnormalities have been discussed. Two major interrelated lessons emerge from what we now know about vitamin-responsive genetic disease. First, it is possible to enhance metabolite flow through partially deficient reactions by suitable manipulation of the
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Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

Journal of Human Immunity
This report provides an updated classification of inborn errors of immunity (IEIs) involving 508 different genes and 17 phenocopies. Of these, we report 67 novel monogenic defects and 2 phenocopies due to neutralizing anti-cytokine autoantibodies or ...
M. Poli, Ivona Aksentijevich, A. A. Bousfiha, C. Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R. J. Seppänen, R. Somech, H. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts, S. Tangye   +16 more
semanticscholar   +1 more source

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity

Journal of Clinical Immunology, 2021
H. Kuehn, C. J. Nunes-Santos, S. Rosenzweig   +2 more
semanticscholar   +1 more source

[Human genetic aspects of inborn ear, nose, and throat diseases].

HNO, 1985
The genetic analysis of malformations enables us to distinguish four groups of different anomalies: 1. Chromosomal disorders (gene and chromosome mutations). 2. Single (monogenic) hereditary anomalies and malformations (gene mutations: point-mutations). 3. Malformations with polygenic multifactorial basis (combination of genetic and exogenous factors).
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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Journal of Clinical Immunology, 2022
A. Bousfiha, Abderrahmane Moundir, S. Tangye, C. Picard, L. Jeddane, W. Al-Herz, C. C. Rundles, J. Franco, S. Holland, C. Klein, T. Morio, É. Oksenhendler, A. Puel, J. Puck, M. Seppänen, R. Somech, H. Su, K. Sullivan, T. Torgerson, I. Meyts   +19 more
semanticscholar   +1 more source