Search Results - (Author, Cooperation:F. J. Ramos)
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1S. C. Johnson ; M. E. Yanos ; E. B. Kayser ; A. Quintana ; M. Sangesland ; A. Castanza ; L. Uhde ; J. Hui ; V. Z. Wall ; A. Gagnidze ; K. Oh ; B. M. Wasko ; F. J. Ramos ; R. D. Palmiter ; P. S. Rabinovitch ; P. G. Morgan ; M. M. Sedensky ; M. Kaeberlein
American Association for the Advancement of Science (AAAS)
Published 2013Staff ViewPublication Date: 2013-11-16Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Brain/drug effects/enzymology/pathology ; Disease Models, Animal ; Electron Transport Complex I/genetics/metabolism ; Glycolysis/drug effects ; Leigh Disease/*drug therapy/genetics/pathology ; Mice ; Mice, Knockout ; Mice, Mutant Strains ; Mitochondria/drug effects/enzymology ; Mitochondrial Diseases/*drug therapy/genetics/pathology ; *Molecular Targeted Therapy ; Multiprotein Complexes/*antagonists & inhibitors ; Neuroprotective Agents/*therapeutic use ; Sirolimus/*therapeutic use ; TOR Serine-Threonine Kinases/*antagonists & inhibitorsPublished by: -
2S. F. Leiser ; H. Miller ; R. Rossner ; M. Fletcher ; A. Leonard ; M. Primitivo ; N. Rintala ; F. J. Ramos ; D. L. Miller ; M. Kaeberlein
American Association for the Advancement of Science (AAAS)
Published 2015Staff ViewPublication Date: 2015-11-21Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Basic Helix-Loop-Helix Transcription Factors/metabolism ; Caenorhabditis elegans/genetics/metabolism/*physiology ; Caenorhabditis elegans Proteins/chemistry/genetics/metabolism/*physiology ; Diet ; Intestines/*enzymology ; Longevity/genetics/*physiology ; Mice ; Neurons/*metabolism ; Oxygenases/genetics/*physiology ; Protein Stability ; RNA Interference ; Receptors, Serotonin/metabolism ; Signal Transduction ; Transcription Factors/chemistry/*metabolism ; Tryptophan Hydroxylase/metabolismPublished by: -
3Staff View
Publication Date: 2012-06-29Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Energy Intake/*physiology ; Female ; Intestines/*cytology ; Male ; Multiprotein Complexes ; Paneth Cells/*cytology/*metabolism ; Proteins/*metabolism ; Stem Cell Niche/*physiology ; Stem Cells/*cytology/*metabolism ; TOR Serine-Threonine KinasesPublished by: -
4Fuentes, Feliciano J. Ramos ; Nicholson, Linda ; Scott, Charles I. ; Fuentes, F. J. Ramos
Springer
Published 1994Staff ViewISSN: 1432-1076Keywords: Key words Baller-Gerold syndrome ; ReviewSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.Type of Medium: Electronic ResourceURL: -
5Staff View
ISSN: 1432-1076Keywords: Baller-Gerold syndrome ReviewSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.Type of Medium: Electronic ResourceURL: -
6Staff View
ISSN: 1432-1076Keywords: Key words Epidermal naevus syndrome ; Hypophosphataemic rickets ; Central nervous system anomaliesSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age, MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.Type of Medium: Electronic ResourceURL: -
7Clavel, A. ; Olivares, J. L. ; Fleta, J. ; Castillo, J. ; Varea, M. ; Ramos, F. J. ; Arnal, A. C. ; Quílez, J.
Springer
Published 1996Staff ViewISSN: 1435-4373Source: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract The seasonal distribution of cryptosporidiosis in children in Aragón, a region in northeastern Spain, was determined. Over a period of six years (October 1988 to September 1994), 10,034 stool samples from 4,508 children with gastrointestinal symptoms were analyzed for this purpose. The age of the patients ranged from 1 month to 14 years.Cryptosporidium oocysts were identified in 87 (1.93%) patients. Prevalence was highest (6.20%) in children aged 1 to 3 years old. The prevalence was significantly higher in the autumn-winter period (October to March) than in the spring-summer period (April to September) in the whole population (2.41% vs. 1.35%, p=0.010) and in the 1- to 3-year-old age group (8.44% vs. 3.20%, p=0.002), but not in the other age groups. A possible relationship of this pattern to attendance at child care centres is suggested.Type of Medium: Electronic ResourceURL: