Results 201 to 210 of about 334,845 (260)

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

Predictive Potential of Red Blood Cell Distribution Width and Platelet Ratio (RDW/PLT) in Early Pregnancy Loss. [PDF]

Int J Womens Health
Ateş Ç, Bakırcı M.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Acceptable Nomenclature for Pregnancy Loss Care: A Cross-Sectional Observational Survey. [PDF]

BJOG
Malory B, Nuttall L, Heazell AEP.
europepmc   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Dosing Interval Extension of Dupilumab in CRSwNP: Five‐Year Real World Outcomes

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a persistent, often Type 2‐mediated inflammatory disease that markedly impairs quality of life. While dupilumab provides rapid improvement, there is limited evidence on long‐term outcomes beyond 2 years, and the clinical impact of dosing‐interval extension remains unclear.
Nicholas J. Campion, Dioni‐Pinelopi Petsiou, Florian C. Fally, Karina Berbalk, Noah F. Melamed, Aldine Tu, Christina Morgenstern, Fana Alem Kidane, Mohammed Zghaebi, Linda Liu, Minghao Pan, Tina J. Bartosik, Victoria Stanek, Katarina Gangl, Julia Eckl‐Dorna, Sven Schneider   +15 more
wiley   +1 more source

A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing. [PDF]

Mol Genet Genomic Med
Kong F, Yin Z, Zhou H, Liu Z, Xie W.
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Multi-omics insights into immune tolerance at the maternal-fetal interface in recurrent pregnancy loss: mechanisms, integration challenges, and translational perspectives. [PDF]

Front Immunol
Shao M, Zhang Y, Tang H, Zhou Z, Zhai M, Zhou X, Bi X, Liao J, Zhang C, Jiang L.   +9 more
europepmc   +1 more source

Preconception One-Carbon Metabolism Nutrient Levels in Preparing for Pregnancy Couples and Spontaneous Pregnancy Loss: A Prospective Cohort Study. [PDF]

MedComm (2020)
Chen X, Zhang Y, Yang Q, Zhu H, Hu J, Huang J, Jin L, Zhang X, Dou Y, He W, He Y, Chen H, Yao Q, Peng Y, Ma X, Sheng W, Huang G, Yan W, SPCC group.   +18 more
europepmc   +1 more source