Search Results - "Sahbatou, M."
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The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil
Published in Mutation research (01-04-2020)“…•Identifying a common genomic segment between Brazilian and Spanish XP patients.•The POLH intron 6 mutation in Brazil is originally from Europe.•The founder…”
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SREBF-1 Gene Polymorphisms Are Associated With Obesity and Type 2 Diabetes in French Obese and Diabetic Cohorts
Published in Diabetes (New York, N.Y.) (01-08-2004)“…SREBF-1 Gene Polymorphisms Are Associated With Obesity and Type 2 Diabetes in French Obese and Diabetic Cohorts Delphine Eberlé 1 2 , Karine Clément 2 , David…”
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WS17.1 The ancient origin of F508del-CF: When and where the mutation arose
Published in Journal of cystic fibrosis (01-06-2015)“…Objective To determine when and where the F508del mutation arose and how it may have diffused in Europe. Methods A total of 182 CF patients and their parents…”
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Single nucleotide polymorphisms of protein tyrosine phosphatase 1B gene are associated with obesity in morbidly obese French subjects
Published in Diabetologia (01-07-2004)“…The development of insulin resistance may contribute to the occurrence and progression of the metabolic syndrome associated with obesity. Components…”
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Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Published in The New England journal of medicine (18-08-2011)“…A study of families from southern Tunisia affected by general pustular psoriasis uncovered the genetic cause of their disease: a mutation affecting the…”
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Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
Published in Nature (London) (31-05-2001)“…Crohn's disease and ulcerative colitis, the two main types of chronic inflammatory bowel disease, are multifactorial conditions of unknown aetiology. A…”
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A Design Strategy in CMOS for Microprocessors and Its Application to the Intel 80C48
Published in IEEE journal of solid-state circuits (01-06-1985)“…The main purpose in redesigning the 8048 Intel Microcomputer in CMOS technology is to test our tool's efficiency and to evaluate our design methodology, called…”
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Significant linkage to spondyloarthropathy on 9q31–34
Published in Human molecular genetics (01-08-2004)“…Spondyloarthropathy (SpA) is a frequent rheumatologic disorder with a prevalence of 0.3% in Caucasian populations from western Europe. It commonly presents as…”
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Single nucleotide polymorphisms of protein tyrosine phosphatase 1B gene are associated with obesity in morbidly obese French subjects
Published in Diabetologia (01-07-2004)“…AIMS/HYPOTHESIS: The development of insulin resistance may contribute to the occurrence and progression of the metabolic syndrome associated with obesity…”
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Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the beta globin gene
Published in European journal of human genetics : EJHG (01-05-2002)“…We evaluated the effects of polymorphic markers within the beta globin gene cluster on HbF expression in two groups. These groups were randomly selected from a…”
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Mutations dans le gène IL-36Ra responsables du psoriasis pustuleux généralisé
Published in Annales de dermatologie et de vénéréologie (01-12-2011)Get full text
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The efficiency of genetic analysis of DNA from aged siblings to detect chromosomal regions implicated in longevity
Published in Mechanisms of ageing and development (20-10-2000)“…Studies of the frequencies of different alleles in young adults and aged individuals have implicated several genes, such as ApoE and ACE, in longevity. However…”
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A study of French centenarians: are ACE and APOE associated with longevity?
Published in Comptes rendus de l'Académie des sciences, Série III, Sciences de la vie (01-02-2001)“…Association study is the method of choice to identify genes involved in complex processes that result from the interaction of environmental and genetic…”
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Haplotypic and cladistic analyses revealed a marked dispersion of CD-predisposing nucleotide variations in CARD15/NOD2
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2002)Get full text
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