Results 81 to 90 of about 5,948 (186)

X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo [PDF]

open access: yes, 1982
Electrophoretic variant forms of the X-linked enzyme phosphoglycerate kinase (PGK-1, E.C.2, 7, 2, 3) have been used to examine X-chromosome mosaicism in tissues from 121/2-day post coitum heterozygous female mouse embryos.
Fosten, M., McMahon, A., Monk, M.
core  

Lesch-Nyhan syndrome: A case report

open access: yesJournal of Indian Society of Pedodontics and Preventive Dentistry, 2008
Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching.
Kale A, Shah K, Hallikerimath S
doaj  

INCREMENTO EN MUTACIONES DE TIPO TRANSICIONAL PARA ATENUAR EL EFECTO DE SESGO EN LA INACTIVACIÓN DEL CROMOSOMA X CONDUCEN A LA APARICIÓN DE MUTACIONES CON EFECTO PATOLÓGICO EN EL GEN DE LA IDURONATO2 SULFATASA(IDS)(3.1.6.13)

open access: yesRevista de Investigaciones Universidad del Quindío, 2017
Varios autores han registrado la importancia de la metilación del gen IDS en el proceso de inactivación del cromosoma X. Adicionalmente, algunos pacientes con mucopolisacaridosis muestran un patrón de sesgo en la inactivación del cromosoma X y su ...
Adalberto Sánchez Gómez
doaj   +1 more source

Lesch-Nyhan syndrome: a case report. [PDF]

open access: yesJ Korean Assoc Oral Maxillofac Surg, 2023
Park HI, Kim GH, Ahn KM.
europepmc   +1 more source

The Story of Gout [PDF]

open access: yes, 1969
It had long been suspected that gout might be a disease of varying origins, but it has only been during the present century that primary or acquired gout and hereditary gout have been clearly defined and differentiated. A considerable number of secondary
Copeman, W. S. C.
core   +1 more source

Wormwholes: A Commentary On K.F. Schaffer\u27s Genes, Behavior, And Developmental Emergentism [PDF]

open access: yes, 1998
Although Caenorhabditis elegans was chosen and modified to be an organism that would facilitate a reductionist program for neurogenetics, recent research has provided evidence for properties that are emergent from the neurons. While neurogenetic advances
Gilbert, Scott F., Jorgensen, E. M.
core   +1 more source

Bipolar affective disorder: A review of novel forms of therapy

open access: yesCurrent Issues in Pharmacy and Medical Sciences, 2015
Normothymic, antidepressant and antipsychotic pharmaceutics are, in accordance with international guidelines, employed both in the therapy and the prevention of bipolar disorder (BD).
Dziwota Ewelina   +4 more
doaj   +1 more source

The Role of Purine Metabolism and Uric Acid in Postnatal Neurologic Development

open access: yesMolecules
This review explores the essential roles of purine metabolism including the catabolic product, uric acid, in the development of dopaminergic neurons of the substantia nigra pars compacta. The high energy requirements of the substantia nigra pars compacta
Lauren N. Mileti, James D. Baleja
doaj   +1 more source

The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome. [PDF]

open access: yesMaedica (Bucur), 2023
Roza E, Baloi AD, Plaiasu V, Teleanu RI.
europepmc   +1 more source

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