Results 101 to 110 of about 282,128 (301)

Autism spectrum disorders [PDF]

The earlier that children with an Autism Spectrum Disorder (ASD) receive referral, diagnosis and intervention, the better the long-term results are for those children and their families (Barbaro & Dissanyake, 2009; Wiggins et al., 2006; Mandell et al.
Centre for Community Child Health
core  

What can developmental disorders tell us about the neurocomputational constraints that shape development? the case of Williams syndrome [PDF]

, 2003
The uneven cognitive phenotype in the adult outcome of Williams syndrome has led some researchers to make strong claims about the modularity of the brain and the purported genetically determined, innate specification of cognitive modules.
Karmiloff-Smith, Annette, Thomas, Michael S.C.   +1 more
core   +3 more sources

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source

Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability

International Journal of General Medicine, 2021
Diana Miclea,1,2 Adriana Szucs,1,2 Andreea Mirea,1,2 Delia-Maria Stefan,1,2 Florina Nazarie,1,2 Simona Bucerzan,2,3 Cecilia Lazea,2,3 Alina Grama,2,3 Tudor Lucian Pop,2,3 Marius Farcas,4 Gabriela Zaharie,3,4 Melinda Matyas,3,4 Monica Mager Snr,2,3 ...
Miclea D, Szucs A, Mirea AM, Stefan DM, Nazarie F, Bucerzan S, Lazea C, Grama A, Pop TL, Farcas M, Zaharie G, Matyas M, Mager Snr M, Vintan M, Popp R, Alkhzouz C   +15 more
doaj  

Yield of karyotyping in children with developmental delay and/or dysmorphic features in Sohag University Hospital, Upper Egypt

Egyptian Journal of Medical Human Genetics, 2018
Background: Global developmental delay (GDD) represents a measurable lag in a young child's achievement of developmental milestones compared to age matched children.
Abdelrahim A. Sadek, Mostafa Ashry Mohamed   +1 more
doaj   +1 more source

Requirements for efficient cell-type proportioning: regulatory timescales, stochasticity and lateral inhibition

, 2015
The proper functioning of multicellular organisms requires the robust establishment of precise proportions between distinct cell-types. This developmental differentiation process typically involves intracellular regulatory and stochastic mechanisms to ...
Kaneko, Kunihiko, Pfeuty, Benjamin
core   +1 more source

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome [PDF]

, 2012
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations
A Ciccia, A Klingseisen, A Rauch, A. Malcolm R. Taylor, AD Borglum, Andrew O. M. Wilkie, D Cortez, DL Guernsey, E Griffith, E Kalay, EA Nam, Emma Hobson, EN Noensie, F Majewski, Gillian Carpenter, GK Alderton, GK Thornton, Grant S. Stewart, HL Ball, IM Ward, J Falck, J Goodship, JG Hall, Katrina Prescott, L Zou, LI Toledo, LS Bicknell, LS Bicknell, M Murga, M O'Driscoll, M Willems, Margaret Barrow, Mark O'Driscoll, Michiko Matsuse, Mohnish Suri, MS Al-Dosari, ND Lakin, Norisato Mitsutake, P Qvist, Penny A. Jeggo, Philip J. Byrd, PR Andreassen, Pradeep Vasudevan, RA Chanoux, RJ Gorlin, SA de Munnik, Sarah Walker, Siripan Limsirichaikul, Tom Stiff, Tomoo Ogi, V Paciotti, Y Namiki, Yuka Nakazawa   +52 more
core   +5 more sources

Cell‐cycle‐specific lesion evolution rather than inhibition of double‐strand‐break repair underpins cisplatin radiosensitization

Molecular Oncology, EarlyView.
We analyze cisplatin–DNA adducts (CDAs) and double‐strand breaks (DSBs) in a cell‐cycle‐dependent manner. We find that CDAs form similarly across all cell cycle phases. DSBs arise only in S‐phase. CDAs might not directly impair DSB repair, but S‐phase DSB lesions evolve in the presence of CDAs and disrupt repair in G2, also causing radiosensitization ...
Ye Qiu, Xixi Lin, Emil Mladenov, Veronika Mladenova, Jürgen Thomale, Ali Sak, Yao Wang, Yunxuan Deng, Eleni Gkika, Martin Stuschke, George Iliakis   +10 more
wiley   +1 more source

Multi‐omics and low‐input proteomics profiling reveals dynamic regulation driving pluripotency initiation in early mouse embryos

FEBS Open Bio, EarlyView.
Mouse pre‐implantation development involves a transition from totipotency to pluripotency. Integrating transcriptomics, epigenetic profiling, low‐input proteomics and functional assays, we show that eight‐cell embryos retain residual totipotency features, whereas cytoskeletal remodeling regulated by the ubiquitin‐proteasome system drives progression ...
Wanqiong Li, Xi Xiao, Lingbin Qi, Chanyi Li, Sirui Song, Jiaying Qin, Zhigang Xue, Jinfeng Xue, Huaifang Li   +8 more
wiley   +1 more source

Determinants of motor, language, cognitive, and global developmental delay in children with complicated severe acute malnutrition at the time of discharge: An observational study from Central India.

PLoS ONE, 2020
BACKGROUND:Undernutrition leads to impaired psychosocial and cognitive development. This study explored the developmental status of children with complicated severe acute malnutrition (SAM) and correlated it with various risk factors for SAM. METHODS AND
Navneet Khandelwal, Jagdish Mandliya, Kamna Nigam, Vandana Patil, Aditya Mathur, Ashish Pathak   +5 more
doaj   +1 more source