Results 21 to 30 of about 282,128 (301)

Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay [PDF]

Korean Journal of Pediatrics, 2017
PurposeRecent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of
Kyung Yeon Lee, Eunsim Shin
doaj   +1 more source

Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]

, 2019
Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G., Mancuso G., Martorana C., Montante C., Notarbartolo V., Piro E., Schierz I. A. M., Vanella V.   +7 more
core   +1 more source

The Role of Brain Magnetic Resonance Imaging in the Evaluation of Children with Global Developmental Delay [PDF]

International Journal of Anatomy Radiology and Surgery, 2016
Introduction: Global developmental delay is diagnosed when there is a significant delay in two or more of the following domains of development: gross motor, fine motor, speech and language, cognition, and social/personal development.
T. Arul Dasan, B. Deepashree
doaj   +1 more source

RNA-seq reveals post-transcriptional regulation of Drosophila insulin-like peptide dilp8 and the neuropeptide-like precursor Nplp2 by the exoribonuclease Pacman/XRN1 [PDF]

, 2015
Ribonucleases are critically important in many cellular and developmental processes and defects in their expression are associated with human disease.
Amy L. Pashler, Benjamin P. Towler, Christopher I. Jones, Kannan, Sarah F. Newbury, Sophie R. Robinson   +5 more
core   +1 more source

Evaluation and Comparison of MRI Findings in Children with Global Developmental Delay and Isolated Neurodevelopmental Delay: A Cross-sectional Study

Journal of Clinical and Basic Research, 2021
Background and objectives: Neuro-developmental delay (NDD) is a chronic neurologic problem that adversely affects the quality of life of affected individuated.
Nahideh Khosroshahi, Morteza Danaeian, Alireza Tavasoli, seyed Mehdi Alehossein, Kamyar Kamrani, Ayda Khabazi Oskuoei   +5 more
doaj  

Distal interstitial 1p36 deletion syndrome in a case of global developmental delay with multiple congenital malformations

MGM Journal of Medical Sciences, 2020
We report a 1-year-old girl child with a global developmental delay with multiple congenital malformations who presented with the abnormalities including postnatal growth failure, feeding difficulties, seizures, developmental delay, cardiovascular ...
Suvarna Magar, Madhuri Engade, Shirish Bhartiya, Anish Tamrakar   +3 more
doaj   +1 more source

Developmental delay and its predictors among children under five years of age with uncomplicated severe acute malnutrition: a cross-sectional study in rural Pakistan

BMC Public Health, 2021
Background In developing countries, malnutrition in children and developmental delays are two major challenges for public health. To achieve the vision of the Sustainable Development Goals from the broader perspective of child health, early ...
Javeria Saleem, Rubeena Zakar, Gul Mehar Javaid Bukhari, Aneela Fatima, Florian Fischer   +4 more
doaj   +1 more source

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
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Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

Molecular Cytogenetics, 2018
Background Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes.
Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan, Murat Erdogan   +5 more
doaj   +1 more source

Screening for developmental disorders in 3- and 4-year-old italian children: a preliminary study [PDF]

, 2017
BACKGROUND: The "Osserviamo" project, coordinated by the Municipality of Rome and the Department of Pediatrics and Child Neuropsychiatry of Sapienza University, aimed to validate an Italian version of the Ages and Stages Questionnaire-3 and to collect ...
Catino, E, Di Trani, M, Giovannone, F, Manti, F, Nunziata, L, Piccari, F, Sirchia, V, Sogos, C., Vannucci, L   +8 more
core   +2 more sources