Results 271 to 280 of about 89,824 (342)

A Novel UPF1 Variant Associated With a Rare UPF1‐Related Neurodevelopmental Disorder

Clinical Genetics, EarlyView.
Nonsense‐mediated mRNA decay (NMD) plays a crucial role in degrading aberrant transcripts with premature termination codons, and aberrant NMD has been linked to neurodevelopmental disorders (NDD). A key player of NMD is UPF1, which is a helicase. Including the current patient, only four individuals with NDD and UPF1 variants have been reported in the ...
Zeynep Tümer, Jonas Dalsberg, Gitte Rønde, Jesper Kiehn Sørensen, Elsebet Østergaard   +4 more
wiley   +1 more source

Parents' views and experiences of raising babies born with cleft lip and palate: a qualitative study. [PDF]

BMC Pediatr
Alinezhad D, Mohammadi F, Kharazifared MJ, Gholami M, Sarmadi S, Razeghi S.   +5 more
europepmc   +1 more source

Democratic Alarmism: Coherent Notion or Contradiction in Terms?

Constellations, EarlyView.
James S. Pearson
wiley   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

Are YouTube™ and TikTok™ videos useful as educational tool for patients with cleft lip and palate? [PDF]

Dental Press J Orthod
Oliveira Júnior JDA, Silva AVMV, Montalvany-Antonucci CC, Maia GA, Carvalho KRJ, Macari S.   +5 more
europepmc   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics, EarlyView.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M. Slavotinek   +11 more
wiley   +1 more source

A Case of Fetal Cleft Lip and Palate Diagnosed by Three-Dimensional Ultrasound During Pregnancy. [PDF]

Cureus
Fujito H, Tanaka K, Nakai K, Awazu Y, Kurokawa M, Taniwaki A, Hayashi M, Nagashima A, Nakagawa K, Nishio J, Ishiko O.   +10 more
europepmc   +1 more source

Artificial Intelligence for Tooth Detection in Cleft Lip and Palate Patients. [PDF]

Diagnostics (Basel)
Arslan C, Yucel NO, Kahya K, Sunal Akturk E, Germec Cakan D.   +4 more
europepmc   +1 more source