Results 11 to 20 of about 544,097 (312)

Alpha1-antitrypsin deficiency: a clinical-genetic overview

The Application of Clinical Genetics, 2011
Raja T Abboud1, Tanya N Nelson2, Benjamin Jung2, Andre Mattman31Department of Medicine, Respiratory Division, University of British Columbia, Vancouver, BC, Canada; 2Department of Pathology and Laboratory Medicine, Children's and Women's ...
Abboud RT, Nelson TN, Jung B, Mattman A
doaj   +1 more source

Genetic-molecular characterization in the diagnosis of primary immunodeficiencies

Jornal de Pediatria, 2021
Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results.
Gesmar Rodrigues Silva Segundo
doaj   +1 more source

Genetic Deficiencies of Complement

Annals of Medicine, 1995
Genetic deficiencies of proteins of the complement system are associated with diverse clinical phenotypes. These clinical manifestations vary as a function of the specific component that is missing. Molecular and cellular biological methods, coupled with more intensive clinical studies, have defined the pathophysiological basis for this set of genetic ...
M L, Lokki, H R, Colten
openaire   +2 more sources

Mutations in SRD5B1 (AKR1D1), the gene encoding Delta(4)-3-oxosteroid 5 beta-reductase, in hepatitis and liver failure in infancy [PDF]

, 2003
Background: A substantial group of patients with cholestatic liver disease in infancy excrete, as the major urinary bile acids, the glycine and taurine conjugates of 7alpha-hydroxy-3-oxo-4-cholenoic acid and 7alpha, 12alpha-dihydroxy-3- oxo-4-cholenoic ...
Duran, M., Scambler, PJ, Custard, E. J., Bouquet, J, Lemonde, H. A., Clayton, P. T., Duran, M, Overmars, H, Bouquet, J., Scambler, P.J., Lemonde, H., Clayton, P.T., Custard, EJ, Scambler, P. J., Clayton, PT, Lemonde, HA, Custard, E.J., Overmars, H.   +17 more
core   +1 more source

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria. [PDF]

, 2012
BACKGROUND: Pyruvate kinase (PK) deficiency, causing hemolytic anemia, has been associated to malaria protection and its prevalence in sub-Saharan Africa is not known so far.
Cláudia Gomes (127952), Licínio Manco (127951), Cláudia Gomes, Juliana Miranda (127964), Sérgio Chibute, Cano, Jorge, Graça Salomé (127955), Miranda, Juliana, Cristina Mendes, Sitoe, Luis, Ribeiro, Letícia, Sérgio Chibute (127957), José Langa (127958), Ana Paula Arez (127971), Fernandes, Natércia, Graça Salomé, António Amorim (3284517), do Rosário, Virgílio E, Ana Paula Arez, do Rosário, Virgílio E., Langa, José, Juliana Miranda, Chibute, Sérgio, Letícia Ribeiro (127961), José Langa, Ochando, Jordi, Patrícia Machado, Patrícia Machado (127949), Gomes, Cláudia, Letícia Ribeiro, Arez, Ana Paula, Salomé, Graça, Machado, Patrícia, João Pinto (36645), Manco, Licínio, Pinto, João, Jorge Cano (37194), Mendes, Cristina, Amorim, António, Natércia Fernandes, Virgílio E do Rosário, António Amorim, Virgílio E. do Rosário (36653), João Pinto, Natércia Fernandes (127954), Cristina Mendes (127953), Licínio Manco, Luis Sitoe, Luis Sitoe (127956), Jorge Cano   +49 more
core   +1 more source

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2 [PDF]

, 2010
Context: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory ...
Metherell, LA, Chung, TTLL, Clark, AJ, Chung, TT, Chan, LF, Clark, AJL   +5 more
core   +1 more source

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy [PDF]

, 2023
Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide.
Giovanna Gallo, Alessandro Rossi, Maria Grazia Fisco, Margherita Ruoppolo, Alagia, Marianna, Giulia Frisso, Cristina Mazzaccara, Terrone, Gaetano, Barretta, Ferdinando, Fabiana Uomo, Daniela Crisci, Gaetano Terrone, Fecarotta, Simona, Gallo, Giovanna, Simona Fecarotta, Uomo, Fabiana, Albano, Lucia, Ruoppolo, Margherita, Ferdinando Barretta, Mazzaccara, Cristina, Lucia Albano, Giancarlo Parenti, Daniela Dottore Stagna, Alessandra Verde, Crisci, Daniela, Fisco, Maria Grazia, Verde, Alessandra, Parenti, Giancarlo, Frisso, Giulia, Maria Rosaria Pricolo, Rossi, Alessandro, Marianna Alagia, Dottore Stagna, Daniela, Pricolo, Maria Rosaria   +33 more
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Platelet glycoprotein VI genetic quantitative and qualitative defects

Platelets, 2019
Platelet membrane glycoprotein VI (GPVI) is increasingly recognized as an important receptor for thrombus formation and growth. Numerous arguments have been published indicating that GPVI plays a major role in thrombosis without being essential for ...
Martine Jandrot-Perrus, Cedric Hermans, Diego Mezzano   +2 more
doaj   +1 more source

Lung function in the general population : the complex interplay of variants in "Serpina1" and other genes with the environment [PDF]

, 2013
Background. One of the globally most frequent health problems are obstructive lung diseases such as asthma and chronic obstructive pulmonary disease.
Thun, Gian Andri
core   +1 more source

Neurological health and premature ovarian insufficiency – pathogenesis and clinical management

Menopause Review, 2018
Premature ovarian insufficiency (POI) is related to neurological problems through neurological symptoms of oestrogen deficiency, diseases caused by oestrogen deficiency, and neurological genetic diseases. Neurological symptoms of oestrogen deficiency are
Radosław Słopień
doaj   +1 more source