Results 91 to 100 of about 20,451 (238)

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging (neurosonography and intrauterine magnetic resonance imaging) of fetuses ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Genetic diseases with impaired central respiratory control

The EuroBiotech Journal, 2017
Respiration is controlled by the complex orchestration of central nervous system centers, peripheral chemoreceptors and muscles of respiration and is shaped by complex ontogenetic factors.
Rosso Lourdes M. Del, Ferri Raffaele
doaj   +1 more source

A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells [PDF]

, 2018
The two centrioles of the centrosome in quiescent cells are inherently asymmetric structures that differ in age, morphology and function. How these asymmetric properties are established and maintained during quiescence remains unknown. Here, we show that
Betleja, Ewelina, Cheng, Tao, Mahjoub, Moe R, Nanjundappa, Rashmi   +3 more
core   +2 more sources

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

The potential role of environmentally associated DNA methylation in childhood acute lymphoblastic leukaemia subtypes

International Journal of Cancer, Volume 157, Issue 8, Page 1600-1612, 15 October 2025.
What's New? The rarity of acute lymphoblastic leukaemia and lack of available environmental data have made the role of environmental factors in genetic subtypes challenging to investigate. Here, the authors performed a CpG‐level analysis to investigate DNA methylation as an intermediate mechanism between environmental risk exposures and acute ...
Jessica R. Saville, Lisa J. Russell, Kay Padget, Akram Ghantous, Jessica Nordlund, Jill A. McKay   +5 more
wiley   +1 more source

Fundamental Neurochemistry Review: Sphingolipids and Ceramides in Brain Development

Journal of Neurochemistry, Volume 169, Issue 10, October 2025.
Ceramides and sphingolipids in brain development and cell compartments. Ceramides and sphingolipids are known to influence multiple steps of brain development, including the formation of the neural tube, neural stem cell polarity and proliferation at the ventricular boundary, neuronal migration—for example, whilst migrating on radial glial processes ...
Kaviya Chinnappa, Fiona Ballorin, Fiona Francis   +2 more
wiley   +1 more source

Loss of correlation between HIV viral load and CD4+ T-cell counts in HIV/HTLV-1 co-infection in treatment naive Mozambican patients [PDF]

, 2009
Seven hundred and four HIV-1/2-positive, antiretroviral therapy (ART) naïve patients were screened for HTLV-1 infection. Antibodies to HTLV-1 were found in 32/704 (4.5%) of the patients.
Augusto, O, Bhatt, N B, Bila, D, Di Mattei, P, Garsia, R, Gudo, E S, Jani, I V, Semá, C   +7 more
core   +2 more sources

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Developing Biomaterial‐Based mRNA Delivery System for Lung Disease Treatment

Advanced Science, Volume 12, Issue 34, September 11, 2025.
Schematic illustration of biomaterial delivery mRNA for the treatment of lung diseases. Abstract Lung disease remains a persistent global health challenge. Advances in medical research have led to innovative strategies to combat these conditions, with biomaterials emerging as a promising platform for targeted drug delivery.
Qiancheng Gu, Huaqian Xue, Zhiyun Liu, Jiameng Rao, Lingyao Zeng, Chen Zhang, Lanjie Lei, Liyun Shi   +7 more
wiley   +1 more source

Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]

, 2020
Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP, Dao, LTM, Do, DH, Ha, LT, Le, HTT, Le, VS, Ly, HTT, Mukhopadhyay, A, Nguyen, HT, Nguyen, HT, Nguyen, LT, Tran, KT, Vu, DM   +12 more
core   +2 more sources