Results 131 to 140 of about 7,747 (217)

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 424-436, February 2023., 2023
Abstract Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However, previous research relied on a cross‐sectional study design turning into age‐related comparisons of different syndromic cohorts to explore age‐dependent changes.
Paola Francesca Ajmone, Ludovica Giani, Beatrice Allegri, Giovanni Michelini, Francesca Dall'Ara, Claudia Rigamonti, Federico Monti, Paola Giovanna Vizziello, Angelo Selicorni, Donatella Milani, Simona Scaini, Antonella Costantino   +11 more
wiley   +1 more source

Implantable Self‐Powered Systems for Electrical Stimulation Medical Devices

Advanced Science, EarlyView.
In this paper, the design strategy and clinical application of ISS are discussed in depth from four aspects: the design and optimization of the energy collection module, the selection and preparation of adaptive electrode materials, the innovation of system design strategy, and the biological effect of electrical stimulation of ISS.
Xi Cui, Li Wu, Chao Zhang, Zhou Li
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Phantoms and phantom limbs: history of describing the phenomenon

Эпилепсия и пароксизмальные состояния
“Phantom” is the sensation of missing body part. Phantom can occur after amputation of virtually any part of the body, but more often after amputation of the upper or lower limbs defined as a “phantom limb”.
D. I. Korabelnikov, E. V. Tkachenko, M. O. Magomedaliev   +2 more
doaj   +1 more source

Medium Spiny Neurons Mediate Timing Perception in Coordination with Prefrontal Neurons in Primates

Advanced Science, EarlyView.
Timing perception is a crucial cognitive function enabling effective navigation in the environment, involving both prospective and retrospective timing. This study investigates the neural mechanisms in monkeys, uncovering distinct processes that shape temporal perception and highlighting the essential role of D2 medium spiny neurons in the striatum as ...
Xinhe Liu, Zhiting Zhang, Lu Gan, Panke Yu, Ji Dai   +4 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Neural Patterns of Social Pain in the Brain‐Wide Representations Across Social Contexts

Advanced Science, EarlyView.
Empathy arises from both physiological and social pain, yet their shared and context‐specific neural mechanisms remain unclear. Combining fMRI and multivariate pattern analysis, this study decodes overlapping empathy networks and distinct representations for social exclusion versus separation.
Xiaodong Zhang, Peng Qing, Qi Liu, Can Liu, Lei Liu, Xianyang Gan, Kun Fu, Chunmei Lan, Xinqi Zhou, Keith M. Kendrick, Benjamin Becker, Weihua Zhao   +11 more
wiley   +1 more source

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 479-489, February 2023., 2023
Abstract To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations.
Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke   +16 more
wiley   +1 more source

Cation‐Anchoring‐Induced Efficient n‐Type Thermo‐Electric Ionogel with Ultra‐High Thermopower

Advanced Science, EarlyView.
An n‐type thermoelectric ion gel with excellent thermoelectric, mechanical, and sensing properties is fabricated via photopolymerization, leveraging an imidazole cation anchoring strategy to enhance thermoelectric performance and multiple hydrogen bonds from bacterial cellulose to improve mechanical strength. Abstract Ionogels have emerged as promising
Wenchao Zhen, Chengshuai Lu, Duo Li, Guangfan Meng, Hongqin Wang, Yifei Jiang, Jiang Lou, Wenjia Han   +7 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source