Zobrazeno 1 - 9
of 9
pro vyhledávání: '"E V, Bawle"'
Autor:
E. V. Bawle, E. P. Carmany, B. Hudson, W. B. Dobyns, Ryan N. Traylor, J E Spence, L. G. Shaffer, Anne M. Bandholz, C. M. Powell, R. A. Schultz, P. Wheeler, J. A. Rosenfeld, B. C. Ballif
Publikováno v:
Molecular Syndromology. 3:102-112
TBR1 encodes a transcription factor with critical roles in corticogenesis, including cortical neuron migration and axon pathfinding, establishment of regional and laminar identity of cortical neurons, and control of glutamatergic neuronal cell fate.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::420a5db4f8c744fb5f670a2e8574a9cb
https://doi.org/10.1159/000342008
https://doi.org/10.1159/000342008
Publikováno v:
Journal of Inherited Metabolic Disease. 26:92-94
We report D-2-hydroxyglutaric aciduria in a neonate with intracranial haemorrhage and absence of the corpus callosum. D-2-hydroxyglutaric acid was confirmed by specific chiral derivatization gas chromatography-mass spectrometry. Absence of the corpus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c31bd19031c98778dc27ff31ea0af471
https://doi.org/10.1023/a:1024000202364
https://doi.org/10.1023/a:1024000202364
Publikováno v:
Archives of pediatricsadolescent medicine. 155(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::be067074c1e171616c96d4687f633e05
https://pubmed.ncbi.nlm.nih.gov/11177069
https://pubmed.ncbi.nlm.nih.gov/11177069
Publikováno v:
American journal of medical genetics. 94(2)
Two cases of marker chromosomes derived from a non-centromeric location were studied to determine the characteristics of these markers with respect to the presence of functional centromeres and whether an associated phenotype could be described. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::769586840fabce935762a31ab0057e6e
https://pubmed.ncbi.nlm.nih.gov/10982967
https://pubmed.ncbi.nlm.nih.gov/10982967
Publikováno v:
American journal of medical genetics. 79(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::379c9f2ef77825b2e0da0b28ed263b76
https://pubmed.ncbi.nlm.nih.gov/9779813
https://pubmed.ncbi.nlm.nih.gov/9779813
Publikováno v:
Teratology. 57(2)
The folic acid antagonists, methotrexate and aminopterin, are known to be teratogenic in humans. The critical period for their teratogenecity is suspected to be between 6 to 8 weeks post-conception. Fetal exposure from 10 to 32 weeks weeks post-conce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d404d4e5ba7e09b88c92878fe7cdf7a7
https://pubmed.ncbi.nlm.nih.gov/9562676
https://pubmed.ncbi.nlm.nih.gov/9562676
Publikováno v:
Alcoholism, clinical and experimental research. 21(2)
Fetal alcohol syndrome (FAS) is characterized by congenital anomalies traditionally associated with hearing disorders. The present study sought to (a) evaluate possible central hearing loss; (b) verify and extend previous observations on sensorineura
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b7d6ae4f05046548269c311dc9e904b4
https://pubmed.ncbi.nlm.nih.gov/9113257
https://pubmed.ncbi.nlm.nih.gov/9113257
Publikováno v:
Pediatric Research. 56:671-671
Purpose of study– Transient hyperammonemia of the newborn can lead to an overwhelming and potentially fatal illness. The etiology of this condition is obscure although hypoxia, immature urea cycle and inadequate hepatic blood flow have all been imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::185207905e52d26e0ee1a0f0b31ad761
https://doi.org/10.1203/00006450-200410000-00052
https://doi.org/10.1203/00006450-200410000-00052
Autor:
E. V. Bawle, I. Warrier
Publikováno v:
Journal of Inherited Metabolic Disease. 14:109-110
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b48ccece5b7b7b39e297c5fb75ff06
https://doi.org/10.1007/bf01804399
https://doi.org/10.1007/bf01804399