Bases bibliographiques Pascal et Francis

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Screening for cryptic chromosomal abnormalities in patients with mental retardation and dysmorphic facial features using telomere FISH probesHULLEY, Bonnie J; HUMMEL, Marybeth; WENGER, Sharon L et al.American journal of medical genetics. 2003, Vol 117A, Num 3, pp 302-303, issn 0148-7299, 2 p.Article

Variations in the dopamine β-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophyCHO, Sonhae; KIM, Chun-Hyung; CUBELLS, Joseph F et al.American journal of medical genetics. 2003, Vol 120A, Num 2, pp 234-236, issn 0148-7299, 3 p.Article

Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depressionVILLAFUERTE, Sandra M; DEL-FAVERO, Jurgen; ADOLFSSON, Rolf et al.American journal of medical genetics. 2002, Vol 114, Num 2, pp 222-226, issn 0148-7299Article

Sex differences in shared genetic and environmental influences between conduct disorder symptoms and marijuana use in adolescentsMILES, Donna R; VAN DEN BREE, Marianne B. M; PICKENS, Roy W et al.American journal of medical genetics. 2002, Vol 114, Num 2, pp 159-168, issn 0148-7299Article

Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23DE VRIES, Bert B. A; BREEDVELD, Guido J; DEELEN, Wouter H et al.American journal of medical genetics. 2002, Vol 111, Num 4, pp 443-445, issn 0148-7299Article

International Meeting of the Attention Deficit Hyperactivity Disorder Molecular Genetics NetworkAmerican journal of medical genetics. 2001, Vol 105, Num 3, pp 255-270, issn 0148-7299Conference Proceedings

Allelic association discriminates draft ordersENNIS, S; COLLINS, A; TAPPER, W et al.Annals of human genetics. 2001, Vol 65, Num 5, pp 503-504, issn 0003-4800Article

Rho proteins and the cellular mechanisms of mental retardationRAMAKERS, G. J. A.American journal of medical genetics. 2000, Vol 94, Num 5, pp 367-371, issn 0148-7299Article

Eighth World Congress on Psychiatric Genetics, Versailles, France, 27-31 August 2000: Abstracts of presentationsORSONI, S; LAURENT, C; MELONI, R et al.American journal of medical genetics. 2000, Vol 96, Num 4, issn 0148-7299, 133 p.Conference Proceedings

A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in malesMELONI, Ilaria; BRUTTINI, Mirella; LONGO, Ilaria et al.American journal of human genetics. 2000, Vol 67, Num 4, pp 982-985, issn 0002-9297Article

Hemizygosity of δ-catenin (CTNND2) is associated with severe mental retardation in Cri-du-Chat syndromeMEDINA, M; MARINESCU, R. C; OVERHAUSER, J et al.Genomics (San Diego, Calif.). 2000, Vol 63, Num 2, pp 157-164, issn 0888-7543Article

Mapping of a Gene for nonspecific x-linked mental retardation (MRX 75) to Xq24-q26CASPARI, R; UHLHAAS, S; FRIEDL, W et al.American journal of medical genetics. 2000, Vol 93, Num 4, pp 290-293, issn 0148-7299Article

Phenotypic spectrum and management issues in Kabuki syndromeKAWAME, H; HANNIBAL, M. C; HUDGINS, L et al.The Journal of pediatrics. 1999, Vol 134, Num 4, pp 480-485, issn 0022-3476Article

PAK3 mutation in nonsyndromic X-linked mental retardationALLEN, K. M; GLEESON, J. G; BAGRODIA, S et al.Nature genetics. 1998, Vol 20, Num 1, pp 25-30, issn 1061-4036Article

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitorBIENVENU, T; PORTES, V. D; MORAINE, C et al.Human molecular genetics (Print). 1998, Vol 7, Num 8, pp 1311-1315, issn 0964-6906Article

Oligophrénine-1, une protéine Rho-GAP impliquée dans une forme non spécifique de retard mental lié au chromosome X = Oligophrenin-1 encodes a Rho-GAP protein involved in X-linked mental retardationBILLUART, P; BIENVENU, T; BELJORD, C et al.MS. Médecine sciences. 1998, Vol 14, Num 5, pp 679-681, issn 0767-0974Article

Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15qFRIDMAN, C; VARELA, M. C; NICHOLLS, R. D et al.Clinical genetics. 1998, Vol 54, Num 4, pp 303-308, issn 0009-9163Article

A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to xq12-q21JOHNSON, J. P; NELSON, R; SCHWARTZ, C. E et al.Journal of medical genetics. 1998, Vol 35, Num 12, pp 1026-1030, issn 0022-2593Article

Further delineation of the KBG syndromeDEVRIENDT, K; HOLVOET, M; FRYNS, J. P et al.Genetic counseling. 1998, Vol 9, Num 3, pp 191-194, issn 1015-8146Conference Paper

A general method for DNA polymorphism identification in genetic assessment and molecular diagnosisBEYER, K; LAO, J. I; ANTON ALVAREZ, X et al.Methods and findings in experimental and clinical pharmacology. 1997, Vol 19, Num 2, pp 87-91, issn 0379-0355Article

Rethinking genotype and phenotype correlations in polyglutamine expansion disordersANDREW, S. E; GOLDBERG, Y. P; HAYDEN, M. R et al.Human molecular genetics (Print). 1997, Vol 6, Num 12, pp 2005-2010, issn 0964-6906Article

Chromosom 8p-Syndrom : Herzfehler und psychomotorische Retardierung als Leitsymptome : Fallbericht = Chromosome 8p-syndrome featuring congenital heart malformation and psychomotor retardationSPRANGER, S; JAUCH, A; RAUTERBERG-RULAND, I et al.Monatsschrift für Kinderheilkunde. 1997, Vol 145, Num 10, pp 1054-1056, issn 0026-9298Conference Paper

Characterization of a de novo duplication of 11p14→p13, using fluorescent in situ hybridization and Southern hybridizationSPELEMAN, F; MANNENS, M; REDEKER, B et al.Cytogenetics and cell genetics. 1991, Vol 56, Num 3-4, pp 129-131, issn 0301-0171, 4 p.Article

Population cytogenetics of folate-sensitive fragile sites. II: Autosomal rare fragile sitesKAHKONEN, M; TENGSTROM, C; ALITALO, T et al.Human genetics. 1989, Vol 82, Num 1, pp 3-8, issn 0340-6717, 6 p.Article

Recurrence risks in an oligogenic threshold model: the effect of alterations in allele frequencyKENDLER, K. S; KIDD, K. K.Annals of human genetics. 1986, Vol 50, Num 1, pp 83-91, issn 0003-4800Article

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