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12,598 results
  • Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families. [Journal Article]
    J Clin Immunol 2019Ben-Ali M, Kechout N, … Barbouche MR
  • Autosomal recessive agammaglobulinemia (ARA) is a primary immunodeficiency characterized by absent peripheral B cells, severe hypogammaglobulinemia, and absent BTK gene mutations. In ARA, mutations occur in genes encoding the pre-B cell receptor (pre-BCR) or downstream signaling proteins. In this work, we used candidate gene and whole-exome sequencing to investigate the molecular basis of ARA in …
  • [Cyclopia: a rare form of facial expression in a reference health center in Bamako about a case]. [Journal Article]
    Pan Afr Med J 2019; 33:261Amadou D, Youssouf K
  • Cyclopia also called "cyclopia" is a rare genetic malformation. It is the most severe form of alobaric holoprosencephaly. It is a rare form of hypotelorism characterized by the fusion of the two orbits and the presence of a single eye in the middle of the forehead hence its name. This malformation is associated with other facial malformations. Cyclopia is related to the absence of development of …
  • [Congenital factor VII deficiency revealed by post-circumcision bleeding]. [Case Reports]
    Pan Afr Med J 2019; 33:212Ettarfaoui M, Ghissassi SE, Barkat A
  • Factor VII formerly known as proconvertin is a vitamin K-dependent coagulation factor involved in exogenous coagulation. Congenital factor VII deficiency is a very rare autosomal recessive hereditary disease. We report the case of a new-born of parents who had first-degree consanguinity, admitted to hospital on D10 of life with post-circumcision haemorrhagic syndrome. Laboratory tests showed decr…
  • [Chronic mucocutaneous candidiasis with STAT1 gain-of-function mutation associated with herpes virus and mycobacterial infections]. [Journal Article]
    Ann Dermatol Venereol 2019Baghad B, Benhsaien I, … Ailal F
  • CONCLUSIONS: CMC was diagnosed in our patient despite poor clinical features. Sequencing of the genome revealed STAT1GOF mutation. This mutation affects production of IL-17, an important cytokine in mucocutaneous defense against Candida. The association with mycobacterial adenitis is rare and continues to be poorly understood. The presence of atypical rosacea in this setting is suggestive of this entity. Antifungal therapy and prevention of complications are necessary to reduce the morbidity and mortality associated with this condition.CMC due to STAT1GOF mutation is characterized by a broad clinical spectrum and should be considered in all cases of chronic or recurrent fungal infection, whether or not associated with other infections.
  • Primary congenital glaucoma in Denmark, 1977-2016. [Journal Article]
    Acta Ophthalmol 2019Pedersen KB, Kappelgaard P, … Bach-Holm D
  • CONCLUSIONS: We provide unique nation-based information on the incidence of PCG from a single country covering 40 years. Male gender was a risk factor. Diagnostic delay was unchanged throughout the 4 decades and a high percentage of comorbidity was revealed. Introducing a standardized paediatric screening of all PCG children should be considered.
  • Hemoglobinopathies in the North of Morocco: Consanguinity Pilot Study. [Journal Article]
    Biomed Res Int 2019; 2019:6857417Laghmich A, Alaoui Ismaili FZ, … Bennani Mechita M
  • Consanguinity is a social behavior characterized by the arrangement of marriages between relatives. It coincides generally with the geographic distribution of recessive genetic diseases as it increases the likelihood of homozygosis and, consequently, the incidence of their pathologies in the population. In this pilot study, we assess the effect of inbreeding on the burden of hemoglobinopathies in…
  • A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report. [Journal Article]
    BMC Med Genet 2019; 20(1):165Wu X, Wang W, … Zhao L
  • CONCLUSIONS: We reported a consanguinity married family which had COQ2 and ARSB dual mutant. Kidney diseases caused by COQ2 gene mutations can manifest as SRNS, with poor prognosis. The C. 832 T > c ( 278arg) is a new mutation site. Genetic assessment for children with steroid-resistant nephrotic syndrome, especially in infancy, is very important. Families with a clear family history should receive genetic counselling and prenatal examinations, and children without a family phenotype should also receive genetic screening as early as possible.
  • Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. [Journal Article]
    Neurogenetics 2019Echaniz-Laguna A, Cuisset JM, … Latour P
  • Giant axonal neuropathy (GAN) is an autosomal recessive disease caused by mutations in the GAN gene encoding gigaxonin. Patients develop a progressive sensorimotor neuropathy affecting peripheral nervous system (PNS) and central nervous system (CNS). Methods: In this multicenter observational retrospective study, we recorded French patients with GAN mutations, and 10 patients were identified. Me…
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