Results 61 to 70 of about 75,209 (304)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

How to effectively manage myopia

Taiwan Journal of Ophthalmology, 2017
Myopia has become epidemic in the world. Without effective control, the progression may lead to excessive myopia with severe complications affecting vision and ocular alignment.
Ann Yi-Chiun Chuang
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Paradigm shifts in management of paediatric myopia

Kerala Journal of Ophthalmology
The rising prevalence of pediatric myopia poses a major clinical and socio-economic burden. Understanding the genetic and environmental risk factors for progressive myopia has ushered in paradigm changes in the management of pediatric myopia.
R. Neena
doaj   +1 more source

Myopia progression control lens reverses induced myopia in chicks [PDF]

Ophthalmic and Physiological Optics, 2017
Abstract Purpose To determine whether lens induced myopia in chicks can be reversed or reduced by wearing myopia progression control lenses of the same nominal (central) power but different peripheral designs. Methods
Irving, Elizabeth L., Yakobchuk-Stanger, Cristina   +1 more
openaire   +2 more sources

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

The impact of the integrated people-centered eye care model on myopia control among children and adolescents in China

Scientific Reports
To evaluate the effectiveness of the integrated people-centered eye car"365 Eye Care,” in controlling myopia among children and adolescents in northeast China. Additionally, the study aimed to explore the model’s impact on different subgroups.
Xingru He, Fan Yang, Ruichong Zhang, Wei He, Cui Yu, Xiangdong He, Jiayan Chen, Guanghao Qin, Sile Yu   +8 more
doaj   +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

Rights Myopia in Child Welfare [PDF]

, 2005
For decades, legal scholars have debated the proper balance of parents\u27 rights and children\u27s rights in the child welfare system. This Article argues that the debate mistakenly privileges rights.
Boothroyd, R. N., Flindt, T., Foltz, L., Guglielmelli, P., Harrison, C. N., Koehler, M., Komatsu, N., Koschmieder, Steffen, Mathias, J., Mesa, R. A., Ronco, J. Perez, Spierer, A., Taylor-Stokes, Gavin, Waller, J.   +13 more
core   +1 more source