Results 201 to 210 of about 1,952,171 (248)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Hospital-wide pathogen transmission surveillance combining epidemiological, genetic, and spectroscopic approaches. [PDF]

Microbiol Spectr
Wolf S, Barth-Jakschic E, Bader B, Peter S, Liese J.   +4 more
europepmc   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

<i>Shigella</i> infections in the era of antimicrobial resistance: Insights into cephalosporin use. [PDF]

New Microbes New Infect
Wang W, Qin Y, Wang Y, Li X, Kuang D, Rajaofera MJN.   +5 more
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Clinical and surveillance outcomes of the TP53 c.1000G > C (p.Gly334Arg) variant. [PDF]

Fam Cancer
Peerless Y, Bernstein-Molho R, Kventsel I, Frenkel Z, Levi L, Kedar I, Zick A, Peretz T, Goldberg Y, Halpern N.   +9 more
europepmc   +1 more source

Owning Home, Finding Belonging: Relational Meanings of Homeownership for Migrant Healthcare Workers in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT Migrant healthcare workers in Australia find themselves at the centre of three intersecting concerns, often presented as ‘crises’ in contemporary discourse: the ‘care crisis’, the ‘housing crisis’ and the ‘migration crisis.’ Yet their own perspectives on these issues are rarely foregrounded. This paper explores the role of homeownership in the
Leah Williams Veazey
wiley   +1 more source

Comment on: Changes in microbiological characteristics of bloodstream infections before and after the COVID-19 pandemic in a tertiary teaching hospital in Iran. [PDF]

BMC Infect Dis
Sabino SS, Fernandes AM, Queiroz NL, de Brito CS, Queiroz LL, Melgarejo CRV, Gontijo Filho PP, Ribas RM.   +7 more
europepmc   +1 more source

‘Shelter is a Dignity’: Rental Racism, Stress and Housing (In)justice

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's private rental sector is in crisis, and culturally and racially minoritised renters face compounded harms through both covert and everyday direct forms of rental racism. Drawing on five community‐based focus groups in Melbourne (n = 37), the paper explores how racism manifests across the rental pathway and how it structures the ...
Erika Martino, Ilan Wiesel, Ang Li, Rebecca Bentley   +3 more
wiley   +1 more source