Zobrazeno 1 - 10
of 62
pro vyhledávání: '"J G Rogers"'
Publikováno v:
Journal of Medical Genetics. 32:301-305
We report an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. The initial diagnosis was of Seckel syndrome. He became pancytopenic at 16 months and died soon after. His bone marrow was o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d414a77c53179d7150c028dd6ab0bbf
https://doi.org/10.1136/jmg.32.4.301
https://doi.org/10.1136/jmg.32.4.301
Publikováno v:
Journal of Medical Genetics. 31:565-569
We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a15c118659c237d218dd063f0fae2345
https://doi.org/10.1136/jmg.31.7.565
https://doi.org/10.1136/jmg.31.7.565
Autor:
J G, Rogers
Publikováno v:
Bulletin of the New York Academy of Medicine. 13(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f73c671e7e51d28c1f6bde3d2e6ae2d7
https://pubmed.ncbi.nlm.nih.gov/19312011
https://pubmed.ncbi.nlm.nih.gov/19312011
Autor:
S, Bishop, R E, Azuma, L, Buchmann, A A, Chen, M L, Chatterjee, J M, D'Auria, S, Engel, D, Gigliotti, U, Greife, M, Hernanz, D, Hunter, A, Hussein, D, Hutcheon, C, Jewett, J, José, J, King, S, Kubono, A M, Laird, M, Lamey, R, Lewis, W, Liu, S, Michimasa, A, Olin, D, Ottewell, P D, Parker, J G, Rogers, F, Strieder, C, Wrede
Publikováno v:
Physical review letters. 90(16)
The 21Na(p,gamma)22Mg reaction is expected to play an important role in the nucleosynthesis of 22Na in oxygen-neon novae. The decay of 22Na leads to the emission of a characteristic 1.275 MeV gamma-ray line. This report provides the first direct meas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd74f715a2ffe120e41bd1f32de96967
https://pubmed.ncbi.nlm.nih.gov/12731972
https://pubmed.ncbi.nlm.nih.gov/12731972
Autor:
M L, Barr, B M, Meiser, H J, Eisen, R F, Roberts, U, Livi, R, Dall'Amico, R, Dorent, J G, Rogers, B, Radovancević, D O, Taylor, V, Jeevanandam, C C, Marboe
Publikováno v:
The New England journal of medicine. 339(24)
Photopheresis is an immunoregulatory technique in which lymphocytes are reinfused after exposure to a photoactive compound (methoxsalen) and ultraviolet A light. We performed a preliminary study to assess the safety and efficacy of photopheresis in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::681ac00f3096bbf784b6a7766d80bf72
https://pubmed.ncbi.nlm.nih.gov/9845709
https://pubmed.ncbi.nlm.nih.gov/9845709
Autor:
M, Delatycki, J G, Rogers
Publikováno v:
Clinical orthopaedics and related research. (346)
Fibrodysplasia ossificans progressiva is an autosomal dominant disorder. Most cases are due to new gene mutations because people with fibrodysplasia ossificans progressiva have markedly reduced reproductive fitness. The gene or genes responsible for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ccc6eb644b20753b7e0fe00d8be4a8b
https://pubmed.ncbi.nlm.nih.gov/9577405
https://pubmed.ncbi.nlm.nih.gov/9577405
Autor:
T M, Sundt, J G, Rogers
Publikováno v:
Current opinion in cardiology. 12(5)
Interest in transmyocardial laser revascularization for the treatment of otherwise inoperable coronary artery disease has increased rather dramatically in recent years. The results of several industrially sponsored clinical series have been reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8b1ca1868568ffa1edd5139d7cb596cc
https://pubmed.ncbi.nlm.nih.gov/9352170
https://pubmed.ncbi.nlm.nih.gov/9352170
Publikováno v:
American journal of medical genetics. 66(1)
Pitt-Rogers-Danks syndrome (PRDS) is a rare, presumed autosomal recessive, syndrome with pre- and postnatal growth retardation, microcephaly, characteristic facial appearance, seizures, unusual palmar creases and developmental delay. Since the first
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fdf8e0478484ef20979eb37259577579
https://pubmed.ncbi.nlm.nih.gov/9489803
https://pubmed.ncbi.nlm.nih.gov/9489803
Publikováno v:
Journal of medical genetics. 33(11)
The skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the alpha 2 (I) chain of type I collagen, was severely porotic but contained lamellar bone and Hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa94ce93655a0048bbba97e38f7be48b
https://pubmed.ncbi.nlm.nih.gov/8950681
https://pubmed.ncbi.nlm.nih.gov/8950681
Publikováno v:
Anaesthesia and intensive care. 24(4)
The mucopolysaccharidoses are a group of inherited disorders of metabolism, with varying clinical manifestations. A number of them present anaesthetic difficulties. This paper presents a summary table of the syndromes and reviews our experience over
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c265cce9436541f14741ed45a47826b2
https://pubmed.ncbi.nlm.nih.gov/9127668
https://pubmed.ncbi.nlm.nih.gov/9127668