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Critical consequences of finding three pathogenic mutations in an individual with recessive diseaseHALSALL, Sally; NICHOLAS, Adeline K; THORNTON, Gemma et al.Journal of medical genetics. 2010, Vol 47, Num 11, pp 769-770, issn 0022-2593, 2 p.Article

A human laterality disorder associated with recessive CCDC11 mutationPERLES, Zeev; CINNAMON, Yuval; TA-SHMA, Asaf et al.Journal of medical genetics. 2012, Vol 49, Num 6, pp 386-390, issn 0022-2593, 5 p.Article

Natural History of Recessive Inheritance of DMT1 MutationsIOLASCON, A; CAMASCHELLA, C; POSPISILOVA, D et al.The Journal of pediatrics. 2008, Vol 152, Num 1, pp 136-139, issn 0022-3476, 4 p.Article

Genetic analysis of ciliary pattern mutants in Paraurostyla weisseiJERKA-DZIADOSZ, M; MUSZYNSKA, K; FRONTCZAK, M et al.Acta protozoologica. 1989, Vol 28, Num 2, pp 93-110, issn 0065-1583, 18 p.Article

Disturbances in endocannabinoid metabolism causes autosomal recessive neurodegenerationMETZLER, M.Clinical genetics. 2011, Vol 79, Num 3, pp 221-222, issn 0009-9163, 2 p.Article

R75Q Dominant Mutation in GJB2 Gene Silenced by the in Cis Recessive Mutation c.35delGLOSSA, Sandra; CHINETTI, Viviana; CORVINO, Virginia et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 10, pp 2658-2660, issn 1552-4825, 3 p.Article

Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Autosomal Recessive Cone-Rod DystrophyPASADHIKA, Sirichai; FISHMAN, Gerald A; ALLIKMETS, Rando et al.American journal of ophthalmology. 2009, Vol 148, Num 2, pp 260-265, issn 0002-9394, 6 p.Article

Tumor suppressors: recessive mutations that lead to cancerHANSEN, M. F; CAVENEE, W. K.Cell (Cambridge). 1988, Vol 53, Num 2, pp 172-173, issn 0092-8674Article

Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford)TREVAS MACIEL, A.American journal of medical genetics. 1988, Vol 31, Num 3, pp 483-487, issn 0148-7299Article

Autosomal recessive inheritance of Nager acrofacial dysostosisCHEMKE, J; MOGILNER, B. M; BEN-ITZHAK, I et al.Journal of medical genetics. 1988, Vol 25, Num 4, pp 230-232, issn 0022-2593Article

Dominant-negative fas mutation is reversed by down-expression of c-FLIPBENETEAU, Marie; DABURON, Sophie; MOREAU, Jean-Francois et al.Cancer research (Baltimore). 2007, Vol 67, Num 1, pp 108-115, issn 0008-5472, 8 p.Article

Dimerization of the human melanocortin 1 receptor : Functional consequences and dominant-negative effectsSANCHEZ-LAORDEN, Berta L; SANCHEZ-MAS, Jesus; MARTINEZ-ALONSO, Emma et al.Journal of investigative dermatology. 2005, Vol 126, Num 1, pp 172-181, issn 0022-202X, 10 p.Article

Carrier risk calculations for recessive diseases when not all the mutant alleles are detectableCURNOW, R. N.American journal of medical genetics. 1994, Vol 52, Num 1, pp 108-114, issn 0148-7299Article

Select Heterozygous Keap1 Mutations Have a Dominant-Negative Effect on Wild-Type Keap1 In VivoSUZUKI, Takafumi; MAHER, Jonathan; YAMAMOTO, Masayuki et al.Cancer research (Chicago, Ill.). 2011, Vol 71, Num 5, pp 1700-1709, issn 0008-5472, 10 p.Article

Report of a family with an unusual expression of recessive ichthyosis. Review of 42 casesBERNHARDT, M; BADEN, H. P.Archives of dermatology (1960). 1986, Vol 122, Num 4, pp 428-433, issn 0003-987XArticle

PAPSS2 mutations cause autosomal recessive brachyolmiaMIYAKE, Noriko; ELCIOGLU, Nursel H; NAGAI, Toshiro et al.Journal of medical genetics. 2012, Vol 49, Num 8, pp 533-538, issn 0022-2593, 6 p.Article

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of AggrecanTOMPSON, Stuart W; MERRIMAN, Barry; FUNARI, Vincent A et al.American journal of human genetics. 2009, Vol 84, Num 1, pp 72-79, issn 0002-9297, 8 p.Article

The genetics of inbreeding depressionCHARLESWORTH, Deborah; WILLIS, John H.Nature reviews. Genetics (Print). 2009, Vol 10, Num 11, pp 783-796, issn 1471-0056, 14 p.Article

Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant diseaseDAMJI, K. F; GALLIONE, C. J; ALLINGHAM, R. R et al.Human genetics. 1998, Vol 102, Num 2, pp 207-212, issn 0340-6717Article

A new translucent gene 'of' of the silkworm = Un nouveau gène translucide of chez le ver à soieMENG ZHIQI; BANNO, Y; DOIRA, H et al.Séricologia. 1997, Vol 37, Num 4, pp 641-646, issn 0250-3980, 5 p.Article

Continual skin peeling syndromeMATHUR, D. K; BHARGAVA, P; SINGH, P et al.Indian Journal of Dermatology Venereology and Leprology. 1996, Vol 62, Num 2, pp 114-115, issn 0378-6323Article

Autosomal recessive omodysplasiaSTOLL, C; PENNERATH, A; POIRAT, P et al.Annales de génétique (Paris). 1995, Vol 38, Num 2, pp 97-101, issn 0003-3995Article

Effect of ignoring genotype-environment interaction on segregation analysis of quantitative traitsTIRET, L; ABEL, L; RAKOTOVAO, R et al.Genetic epidemiology. 1993, Vol 10, Num 6, pp 581-586, issn 0741-0395Conference Paper

Antibodies against human retinal proteins in serum from patients with cone dystrophyISASHIKI, Y; OHBA, N; NAKAGAWA, M et al.Japanese journal of ophthalmology. 1992, Vol 36, Num 3, pp 323-330, issn 0021-5155Article

Gneralized enchondromatosis in a boy with only platyspondyly in the fatherHALAL, F; AZOUZ, E. M.American journal of medical genetics. 1991, Vol 38, Num 4, pp 588-592, issn 0148-7299Article

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