Zobrazeno 1 - 10
of 28
pro vyhledávání: '"R I Kelley"'
Autor:
Alexander Graf, Caroline A. Kilbourne, Gregory V. Brown, Ming Feng Gu, S. M. Kahn, Frederick S. Porter, Peter Beiersdorfer, R. I. Kelley
Publikováno v:
Canadian Journal of Physics. 90:351-357
We present laboratory spectra of dielectronic recombination (DR) satellite transitions attached to the He-like and H-like iron resonance lines obtained with the NASA Goddard Space Flight Center X-ray calorimeter and produced by a thermal plasma simu1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::574075a19177ee83884f6fb6f7b22f00
https://doi.org/10.1139/p2012-025
https://doi.org/10.1139/p2012-025
Autor:
Samuel J. Casella, W Lopaczynski, T Siebler, Peter J. Munson, R I Kelley, L Phang, C L Terry, R C McEvoy, Daisy D. De León, K J Blakemore
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 80:3447-3457
Most patients with deletion of the distal long arm of chromosome 15 have intrauterine growth retardation and postnatal growth deficiency in addition to developmental abnormalities. It has been proposed that the absence of one copy of the insulin-like
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::990c95ae8991ca3f00b36e29ecd19c62
https://doi.org/10.1210/jcem.80.12.8530582
https://doi.org/10.1210/jcem.80.12.8530582
Autor:
B, Ruan, W K, Wilson, J, Pang, N, Gerst, F D, Pinkerton, J, Tsai, R I, Kelley, F G, Whitby, D M, Milewicz, J, Garbern, G J, Schroepfer
Publikováno v:
Journal of lipid research. 42(5)
Smith-Lemli-Opitz syndrome (SLOS) is a hereditary disorder in which a defective gene encoding 7-dehydrocholesterol reductase causes the accumulation of noncholesterol sterols, such as 7- and 8-dehydrocholesterol. Using rigorous analytical methods in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6839319f44fd8b5e07b3652540e12831
https://pubmed.ncbi.nlm.nih.gov/11352988
https://pubmed.ncbi.nlm.nih.gov/11352988
Autor:
R D, De Kremer, A, Paschini-Capra, S, Bacman, C, Argaraña, G, Civallero, R I, Kelley, N, Guelbert, A, Latini, I, Noher de Halac, A, Giner-Ayala, J, Johnston, R, Proujansky, I, Gonzalez, C, Depetris-Boldini, A, Oller-Ramírez, C, Angaroni, R A, Theaux, E, Hliba, E, Juaneda
Publikováno v:
American journal of medical genetics. 99(2)
An Argentine male child died at 4.5 years of age of a lethal mitochondrial disease associated with a MELAS mutation and a Barth syndrome-like presentation. The child had severe failure to thrive from the early months and for approximately two years t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::490d351038f2e135c695550063309034
https://pubmed.ncbi.nlm.nih.gov/11241464
https://pubmed.ncbi.nlm.nih.gov/11241464
Publikováno v:
American journal of medical genetics. 98(2)
The behavior phenotype of Smith-Lemli-Opitz syndrome (SLOS) was studied by assessing behavior, social, and communication abilities, sensory hyperreactivity, and the deficits associated with autistic disorder. Fifty-six SLOS subjects, age 0.3 to 32.3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8295450b649dc1684b9d2e196170bd68
https://pubmed.ncbi.nlm.nih.gov/11223857
https://pubmed.ncbi.nlm.nih.gov/11223857
Autor:
S, Kumada, M, Hayashi, J, Kenmochi, S, Kurosawa, N, Shimozawa, L E, Kratz, R I, Kelley, K, Taki, M, Okaniwa
Publikováno v:
American journal of medical genetics. 98(3)
We present a male autopsied case of chondrodysplasia punctata with abnormal face, symmetrical proximal limb shortness, severe psychomotor developmental delay, respiratory muscle weakness, and death at the age of 2 years. Although his clinical manifes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0a229157d7a658e7eb6da30d7ae9346c
https://pubmed.ncbi.nlm.nih.gov/11169563
https://pubmed.ncbi.nlm.nih.gov/11169563
Autor:
R I, Kelley
Publikováno v:
Advances in pediatrics. 47
Disorders of cholesterol biosynthesis have recently emerged as important errors of metabolism that collectively have taught us many new genetic and biochemical lessons. Whereas most metabolic diseases are characterized by exclusively or largely postn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::520a3099a1d7671921e3b40509aec4cb
https://pubmed.ncbi.nlm.nih.gov/10959439
https://pubmed.ncbi.nlm.nih.gov/10959439
Publikováno v:
Mental retardation and developmental disabilities research reviews. 6(2)
Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal recessive multiple malformation/mental retardation syndrome initially described by Smith et al. [1964] that is due to a defect in cholesterol biosynthesis. The behavioral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fc36efdee2cace5383945440d13d54d4
https://pubmed.ncbi.nlm.nih.gov/10899806
https://pubmed.ncbi.nlm.nih.gov/10899806
Publikováno v:
American journal of medical genetics. 85(5)
Smith-Lemli-Opitz (SLO or RSH) syndrome is characterized by multiple congenital anomalies, mental retardation, and defective growth; it results from an inherited defect in the biosynthesis of cholesterol. Patients have elevated plasma concentrations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::38435cf5b9a0995bb305c0fbcc2618a7
https://pubmed.ncbi.nlm.nih.gov/10405455
https://pubmed.ncbi.nlm.nih.gov/10405455
Publikováno v:
Nature genetics. 22(3)
Tattered (Td) is an X-linked, semi-dominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4-5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2d973619ef0cd8bcdff21fd4fad93ca1
https://pubmed.ncbi.nlm.nih.gov/10391218
https://pubmed.ncbi.nlm.nih.gov/10391218