Results 191 to 200 of about 12,928 (298)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Innovative Impression Technique for Microstomia Induced by Epidermolysis Bullosa. [PDF]

Cureus
Rokhssi H, Benfdil F, Fajri L.
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Effect of Different Impression and Fabrication Techniques on the Precision of Custom Metal Posts: Fully Digital, Semi-Digital, and Conventional. [PDF]

Clin Exp Dent Res
Rezaee M, Nakhaei M, Haghi HR, Shahri A.
europepmc   +1 more source

Underemployment and Job Quality Among Young Australians: A Gendered Analysis Using the HILDA Survey (2009–2022)

Australian Journal of Social Issues, EarlyView.
ABSTRACT Over almost two decades, young people's employment opportunities have been significantly impacted by events like the Global Financial Crisis (2008–2009) and the COVID‐19 pandemic (2020‐). Thus, underemployment has become a more pervasive and persistent feature of young people's labour market experiences. This research focuses on three forms of
Brendan Churchill
wiley   +1 more source

All-on-Six Implant-Supported Full-Arch Maxillary Rehabilitation With Indirect Sinus Elevation and Multi-unit Abutment Conversion: A Case Report. [PDF]

Cureus
Aggarwal S, Jindal T, Sachdeva S.
europepmc   +1 more source

Establishment of a chronic aspiration pneumonia mouse model using oropharyngeal aspiration of food suspension

Animal Models and Experimental Medicine, EarlyView.
Four aspiration methods (UV, IN, IT, and OA) were compared, and OA was identified as the most effective delivery technique. A chronic aspiration pneumonia model was then established through repeated OA of food suspension or gastric contents. Integrated analyses, including micro‐CT, histopathology, cytokine profiling, and RNA sequencing, revealed ...
Qianwen Li, Fansen Lin, Hongzhi Gao, Yun Zhao, Yuqi Liu   +4 more
wiley   +1 more source

Patient Satisfaction With Digital Versus Conventional Impression Techniques in Clear Aligner Therapy: A Questionnaire-Based Comparative Study. [PDF]

Cureus
Muhammed A, Ambooken B, Harikrishnan R, Theadore L, Kumar B M, Tiwari R.   +5 more
europepmc   +1 more source

Cell therapy comparison of dental pulp stem cells, hepatocytes, and their exosomes for liver fibrosis treatment in rats

Animal Models and Experimental Medicine, EarlyView.
DPSCs, hepatocytes, and exosomes were tested for liver fibrosis therapy. Exosome‐based treatment exhibited superior antioxidative and regenerative effects. Liver enzymes, oxidative stress, and profibrotic markers were significantly reduced. α‐SMA, desmin, and related gene expression were downregulated.
Sahar Rahimi, Seyedeh Mahdieh Khoshnazar, Ali Derakhshani, Nader Shahrokhi   +3 more
wiley   +1 more source

Recent advances in the construction of humanized animal models and applications in translational medicine

Animal Models and Experimental Medicine, EarlyView.
Substantial advances have been achieved in the development of humanized mouse models, which have proven highly valuable in evaluating cancer immunotherapies and elucidating the mechanisms of infectious diseases. There is now a growing shift in research toward larger animal models—such as pigs—that offer greater physiological similarity to humans ...
Yanan Lyu, Yong‐Guang Yang, Zheng Hu
wiley   +1 more source