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المؤلفون: Salome De Almeida, Abhimanyu Garg, Elif Arioglu, Anne M. Bowcock, Nurullah Akkoc, Simeon I. Taylor, Anil K. Agarwal, Robert Barnes
المصدر: Nature Genetics. 31:21-23
مصطلحات موضوعية: Male, medicine.medical_specialty, Lipodystrophy, Genetic Linkage, Adipose tissue, Genes, Recessive, Biology, Acquired generalized lipodystrophy, medicine.disease_cause, Seipin, Congenital generalized lipodystrophy, Internal medicine, Genetics, medicine, Humans, RNA, Messenger, Triglycerides, Mutation, Generalized lipodystrophy, 1-Acylglycerol-3-Phosphate O-Acyltransferase, medicine.disease, Familial partial lipodystrophy, Pedigree, Endocrinology, Adipose Tissue, Female, Chromosomes, Human, Pair 9, Acyltransferases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bab490fc480d3ffda0c6a579042b81f4Test
https://doi.org/10.1038/ng880Test -
2Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
المؤلفون: N. Baudic, M. Lanza, Stephen O'Rahilly, H. Loret, P. Bogalho, Frédéric Huet, Philippe Labrune, Bourut C, O. Trygstad, J. A. Maassen, C R Kahn, Didier Lacombe, J.-J. Robert, Eric M. Sobel, Corinne Vigouroux, M. De Kerdanet, A. Bachy, Jacqueline Capeau, P. Tric, Frederick J. Raal, Barry I Joffe, T. Stephenson, André Mégarbané, Lionel Van Maldergem, F. H. D'abronzo, J. L. Medina, Jocelyne Magré, Roger Assan, A. Nivelon-Chevalier, Alain Verloes, Muriel Meier, Paul Czernichow, Fumihiko Matsuda, S. Savasta, E. Seemanova, Vanessa R. Panz, N. Tubiana-Rufi, G. Loyson, Jean Weissenbach, Eliane Khallouf, Florin Grigorescu, P. Freitas, Tobias Gedde-Dahl, Marc Delepine, Jeanette C. Papp, J. Navarro, Mark Lathrop, Meraida Polak, F. Bonnicci
المصدر: Nature genetics. 28(4)
مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, Lipodystrophy, Genetic Linkage, BSCL2, DNA Mutational Analysis, Molecular Sequence Data, Locus (genetics), Genes, Recessive, Biology, Acquired generalized lipodystrophy, Seipin, Congenital generalized lipodystrophy, Diabetes Complications, Genetic linkage, Internal medicine, GTP-Binding Protein gamma Subunits, Genetics, medicine, Cluster Analysis, Humans, Acanthosis Nigricans, Genetic Testing, Lebanon, Hypertriglyceridemia, Sequence Homology, Amino Acid, Norway, Chromosomes, Human, Pair 11, Proteins, Middle Aged, medicine.disease, Familial partial lipodystrophy, Heterotrimeric GTP-Binding Proteins, Pedigree, Protein Structure, Tertiary, Endocrinology, Haplotypes, Organ Specificity, Mutation, Female, Insulin Resistance, Chromosomes, Human, Pair 9, Hyperandrogenism, Hepatomegaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33f1d317e44baa847de028fb9ade2222Test
https://pubmed.ncbi.nlm.nih.gov/11479539Test