Results 201 to 210 of about 317,599 (260)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Factors Affecting Macro-Structural Development in the Cerebral Cortex: The Potential Role of Tissue Removal Through Pruning and Apoptosis. [PDF]

Biology (Basel)
Levman J.
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Organizational Principles of the Primate Cerebral Cortex at the Single-Cell Level. [PDF]

Adv Sci (Weinh)
Chen R, Nie P, Ma L, Wang GZ.
europepmc   +1 more source

Copy number variants and the tangential expansion of the cerebral cortex. [PDF]

Nat Commun
Liao Z, Kumar K, Kopal J, Huguet G, Saci Z, Jean-Louis M, Pausova Z, Jurisica I, Bearden CE, IMAGEN Consortium, 16p11.2 European Consortium, Jacquemont S, Paus T.   +12 more
europepmc   +1 more source

Amorphous silicon carbide probe mechanics for insertion in the cerebral cortex of rats, pigs, and macaques. [PDF]

J Neural Eng
Khajehzadeh M, Geramifard N, Abbott JR, Wu Y, Tirumala Kumara S, Thai T, Hernandez-Reynoso AG, Joshi-Imre A, Blum KP, Miller LE, Pascual JM, Pancrazio JJ, Cogan SF.   +12 more
europepmc   +1 more source

Gene Expression Profile of the Cerebral Cortex of Niemann-Pick Disease Type C Mutant Mice. [PDF]

Genes (Basel)
Servín-Muñoz IV, Ortuño-Sahagún D, Reyes-Mata MP, Griñán-Ferré C, Pallàs M, González-Castillo C.   +5 more
europepmc   +1 more source

Qi-Fu-Yin ameliorates physiological frailty in male 5xFAD mice through remodeling the gut microbiota and modulating the cerebral cortex metabolism. [PDF]

Front Aging Neurosci
Xiao Y, Li H, Han X, Liu Y, Sun J, Sun C, Wang Y, Ye T, Cheng X.   +8 more
europepmc   +1 more source

A theoretical model for oxygen transport to the cerebral cortex: effects of flow redistribution by penetrating arterioles. [PDF]

Microvasc Res
Sharma A, Secomb TW.
europepmc   +1 more source

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On regeneration of the cerebral cortex

Bulletin of Experimental Biology and Medicine, 1964
In order to ascertain the possibility of structural regeneration in the cortical areas of the cerebral hemispheres, the cortex of the sigmoid convolution was extirpated in puppies aged 10 and 14 days. These animals were then sacrificed 2 and 7 months after the operation.
openaire   +2 more sources