A SIMPLE METHOD FOR FUSING HUMAN LYMPHOCYTES WITH RODENT CELLS IN MONOLAYER BY POLYETHYLENE GLYCOLBRAHE C; SERRA A.1980; SOMATIC CELL GENET.; ISSN 0098-0366; USA; DA. 1980; VOL. 7; NO 1; PP. 109-115; BIBL. 16 REF.Article

D21S170 maps to terminal 21q22.3MOSCETTI, A; TASSONE, F; SERRA, A et al.Nucleic acids research. 1990, Vol 18, Num 20, issn 0305-1048, p. 6178Article

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5VAN DER STEEGE, G; GROOTSCHOLTEN, P. M; COBBEN, J. M et al.American journal of human genetics. 1996, Vol 59, Num 4, pp 834-838, issn 0002-9297Article

Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunctionSERRA, A; BRAHE, C; MILLINGTON-WARD, A et al.American journal of medical genetics. Supplement. 1990, Num 7, pp 162-168, issn 1040-3787, 7 p.Article

Erythrocyte catechol-O-methyltransferase activity: genetic analysis in nuclear families with one child affected by Down syndromeBRAHE, C; SERRA, A; MORTON, N. E et al.American journal of medical genetics. 1985, Vol 21, Num 2, pp 373-384, issn 0148-7299Article

Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same familyZAPPATA, S; TIZIANO, F; NERI, G et al.Human genetics. 1996, Vol 97, Num 3, pp 315-318, issn 0340-6717Article

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)SERTIE, A. L; SOSSI, V; CAMARGO, A. A et al.Human molecular genetics (Print). 2000, Vol 9, Num 13, pp 2051-2058, issn 0964-6906Article

Detection of the survival motor neuron (SMN) genes by FISH : further evidence for a role for SMN2 in the modulation of disease severity in SMA patientsVITALI, T; SOSSI, V; TIZIANO, F et al.Human molecular genetics (Print). 1999, Vol 8, Num 13, pp 2525-2532, issn 0964-6906Article

Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysisBRAHE, C; VELONA, I; NERI, G et al.Human genetics. 1994, Vol 93, Num 5, pp 494-501, issn 0340-6717Article

Presymptomatic diagnosis of SMA III by genotype analysisBRAHE, C; ZAPPATA, S; VELONA, I et al.American journal of medical genetics. 1993, Vol 45, Num 3, pp 408-411, issn 0148-7299Article

The APOE-491 A/T promoter polymorphism effect on cognitive profile of Alzheimer's patientsVALENZA, A; BIZZARRO, A; MARRA, C et al.Neuroscience letters. 2010, Vol 472, Num 3, pp 199-203, issn 0304-3940, 5 p.Article

Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cellsANGELOZZI, C; BORGO, F; TIZIANO, F. D et al.Journal of medical genetics. 2008, Vol 45, Num 1, pp 29-31, issn 0022-2593, 3 p.Article

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophyMERCURI, E; BERTINI, E; CINI, C et al.Neurology. 2007, Vol 68, Num 1, pp 51-55, issn 0028-3878, 5 p.Article

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type IBRAHE, C; CLERMONT, O; ZAPPATA, S et al.Human molecular genetics (Print). 1996, Vol 5, Num 12, pp 1971-1976, issn 0964-6906Article

Identification of key recombinants in multiplex SMA familiesVAN DER STEEGE, G; COBBEN, J.-M; BRAHE, C et al.Genomics (San Diego, Calif.). 1994, Vol 22, Num 1, pp 219-222, issn 0888-7543Article

Apolipoprotein E ε4 allele differentiates the clinical response to donepezil in Alzheimer's diseaseBIZZARRO, A; MARRA, C; ACCIARRI, A et al.Dementia and geriatric cognitive disorders. 2005, Vol 20, Num 4, pp 254-261, issn 1420-8008, 8 p.Article

SMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and defines a novel gene familyLAPENTA, V; CHIURAZZI, P; VAN DER SPEK, P et al.Genomics (San Diego, Calif.). 1997, Vol 40, Num 2, pp 362-366, issn 0888-7543Article

Benign monomelic amyotrophies of upper and lower limb are not associated to deletions of survival motor neuron geneDI GUGLIELMO, G; BRAHE, C; DI MUZIO, A et al.Journal of the neurological sciences. 1996, Vol 141, Num 1-2, pp 111-113, issn 0022-510XArticle

Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(16.3;q22.1) : Relevance to the Wolf-Hirschhorn and Down syndrome critical regionsSEBASTIO, G; PERONE, L; NERI, G et al.American journal of medical genetics. 1996, Vol 63, Num 2, pp 366-372, issn 0148-7299Article

Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locusVELONA, I; ZAPPATA, S; TOPS, C. M. J et al.Human molecular genetics (Print). 1993, Vol 2, Num 6, issn 0964-6906, p. 829Article

Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cellsARWERT, F; PORCK, H. J; ERIKSSON, A. W et al.Human genetics. 1986, Vol 74, Num 4, pp 378-381, issn 0340-6717Article

Catechol-O-methyltransferase: a method for autoradiographic visualization of isozymes in cellogelBRAHE, C; CROSTI, N; KHAN, P. M et al.Biochemical genetics. 1984, Vol 22, Num 1-2, pp 125-132, issn 0006-2928Article