Results 151 to 160 of about 38,591 (268)

Autoimmune cytopenias in inborn errors of immunity: associations with monogenic mutations and immunologic parameters. [PDF]

BMC Immunol
Sağun F, Çölkesen F, Gerek ME, Savaş ŞA, Kolak S, Harman E, Arslan Ş.   +6 more
europepmc   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity. [PDF]

J Clin Immunol
Segura-Tudela A, Nieto-López C, Bermejo-Olivera FJ, Andara LA, Arroyo-Ródenas J, Dueñas-Prieto L, Alfocea-Molina Á, Paz-Artal E, Pleguezuelo D, Cabrera-Marante O, Allende LM.   +10 more
europepmc   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source

Assessing the impact of exome sequencing on diagnostic yield in a large cohort of Brazilian patients. [PDF]

Rev Assoc Med Bras (1992)
Planello AC, Loureiro T, Alencar-Cupertino D, Bermeo D, Sobreira J, Gomes M, Castro LSS, Villela D, Scapulatempo-Neto C, Sobreira N.   +9 more
europepmc   +1 more source

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3

Animal Models and Experimental Medicine, EarlyView.
Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry, Harsimran Sidhu, Maude Lévesque, Dominique Lévesque, Jean‐François Jacques, Otman Sarrhini, Jean‐François Beaudoin, Molly Caron, Brenda Gaudette, Roger Lecomte, Xavier Roucou, François‐Michel Boisvert, Jean‐Philippe Brosseau   +12 more
wiley   +1 more source

Thrombocytopenia in patients with inborn errors of immunity. [PDF]

BMC Immunol
Fekrvand S, Mohtashami M, Sanadgol N, Salehi H, Fard NNG, Afkham EK, Chavoshzadeh Z, Parvaneh N, Mahdaviani SA, Sharafian S, Barzamini S, Ahanchian H, Kalantari A, Shafiei A, Tavakol M, Abolnezhadian F, Rad MK, Hassanpour G, Cheraghi T, Farid AS, Delavari S, Abolhassani H, Rezaei N, Yazdani R.   +23 more
europepmc   +1 more source

Human medicines European public assessment report (EPAR): Respreeza, alpha1-proteinase inhibitor (human), Genetic Diseases, Inborn,Lung Diseases, Date of authorisation: 20/08/2015, Revision: 6, Status: Authorised [PDF]

Case Medical Research, 2019
openaire   +1 more source

Advances in miRNA research: Unraveling the complexities of gene regulation

Animal Models and Experimental Medicine, EarlyView.
Overview of miRNA‐mediated regulation in key biological processes. This illustration offers a comprehensive view of the diverse functions that microRNAs perform in governing various biological processes, highlighting their profound significance within the complex web of gene expression and cellular function.
Jiawei Zheng, Guoqing Zhang, Linzhu Ren
wiley   +1 more source

Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity. [PDF]

Front Immunol
Nishimura M, Tomomasa D, Suzuki R, Miyaoka F, Kanegane H.   +4 more
europepmc   +1 more source