Results 61 to 70 of about 933,148 (275)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

The Benefits of Badminton in the Inhibition of Myopia Progression. [PDF]

Life (Basel)
Background: Myopia progression in children is a growing public health concern, with increasing evidence suggesting that lifestyle factors may influence its development. This study aimed to evaluate the potential benefits of regular badminton activity in slowing myopia progression in children.
Zawistowska J, Pawłowski W, Maślach D, Krzyżak M, Rogulska K, Zawistowska J, Narel A, Bakunowicz-Łazarczyk A.   +7 more
europepmc   +4 more sources

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Progression with myopia control spectacles: identifying predictors of response to defocus incorporated multiple segment and highly aspherical lenslets spectacles in the French myopia cohort

BMJ Open Ophthalmology
Objective To identify predictive factors of myopia progression in children wearing highly aspherical lenslets (HAL) and defocus incorporated multiple segment (DIMS) spectacles.Methods and analysis The 3-year longitudinal, retrospective real-world study ...
Jost B Jonas, Serge Resnikoff, Rupert Bourne, Alain M Bron, Nicolas Leveziel, Rime Najji, Mark Bullimore, Clément Giraud, Christine Fernandez-Maloigne   +8 more
doaj   +1 more source

Effectiveness of modern methods of controlling myopia progression: a review

The myopia epidemic is becoming a more serious problem every year, increasingly affecting children and adolescents. Consequently, it is predicted that a significant percentage of the adult population will be myopic within the coming years. Current animal
Anna Przekoracka-Krawczyk, Maria Padurska, Monika Wojtczak-Kwaśniewska   +2 more
core   +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

Correlation between steroid hormone balance and etiopathology of high myopia: clinical trial

, 1998
The purpose of this study was to determine the relationship between steroid hormone balance in fertile women and the progression of high myopia. Variations of cortisol, progesterone, and estradiol were evaluated.
F. Regine, B. Abdolrahimzadeh, BALACCO GABRIELI, Corrado, MORAMARCO, Antonietta, A. Moramarco, C. Balacco Gabrieli   +5 more
core   +1 more source

Comparative analysis of TP53 gene in Tupaia belangeri subspecies (Tupaia belangeri yaoshanensis vs. Tupaia belangeri chinensis) and identification of mutations in spontaneous tumor cases

Animal Models and Experimental Medicine, EarlyView.
This study provides the first evidence of natural TP53 variation between tree shrew subspecies and identifies somatic TP53 mutations in spontaneous tree shrew sarcomas. The high structural and functional conservation of tree shrew p53 with humans supports its utility as a relevant model for TP53‐related cancer research.
Yingying Cao, Haibo Tang, Liang Liang, Jing Leng, Weijian Huang   +4 more
wiley   +1 more source

Two-year longitudinal change in choroidal and retinal thickness in school-aged myopic children: exploratory analysis of clinical trials for myopia progression

Eye and Vision, 2022
Background With increasing axial length and myopia progression, the micro-structure of the retina and choroid gradually changes. Our study describes the longitudinal changes in retinal and choroidal thickness in school-aged children with myopia and ...
Meiping Xu, Xinping Yu, Minghui Wan, Kemi Feng, Junxiao Zhang, Meixiao Shen, Björn Drobe, Hao Chen, Jia Qu, Jinhua Bao   +9 more
doaj   +1 more source