Výsledky vyhledávání - "Stefania Zappata"

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 Patients

Autor: Giovanni Neri, Christina Brahe, Stefania Zappata, Francesco Danilo Tiziano, Anna Giuli, Maria Paravatou-Petsotas, Vittorio Sossi, Tiziana Vitali

Publikováno v: Scopus-Elsevier

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder which presents with various clinical phenotypes ranging from severe to very mild. All forms are caused by the homozygous absence of the survival motor neuron ( SMN1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b3fba41955f1f3c4346b42c6ea5b1b
https://doi.org/10.1093/hmg/8.13.2525

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Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

Autor: Francesco Danilo Tiziano, Christina Brahe, Judith Melki, Stefania Zappata, Giovanni Neri, Olivier Clermont

Publikováno v: Scopus-Elsevier

Recently, a spinal muscular atrophy (SMA) determining gene, termed survival motor neuron (SMN) gene, has been isolated from the 5q13 region and found deleted in most patients. A highly homologous copy of this gene has also been isolated and located i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e90708fe5e87a325c7956caaf1a4a2a
https://doi.org/10.1093/hmg/5.12.1971

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Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family

Autor: Francesco Danilo Tiziano, Stefania Zappata, C. Brahe, Giovanni Neri

Publikováno v: Human Genetics. 97:315-318

Recently, a gene determining spinal muscular atrophy (SMA), termed survival motor neuron (SMN) gene, has been isolated from the 5q13 region. This gene has been found to be deleted in most patients with childhood-onset SMA. We have studied the SMN gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62582a2d44eb30c9408cbf4ac11bb559
https://doi.org/10.1007/bf02185762

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Identification of Key Recombinants in Multiplex SMA Families

Autor: C. Brahe, Stefania Zappata, Lp Tenkate, Giovanni Neri, Chcm Buys, J. M. Cobben, Jan Osinga, Hans Scheffer, G Vandersteege, Gjb Vanommen

Publikováno v: GENOMICS, 22(1), 219-222. ACADEMIC PRESS INC ELSEVIER SCIENCE

Recent reports have provided evidence that a major gene for autosomal recessive proximal spinal muscular atrophy (SMA) resides in a small genetic interval in bands q12-q13 of chromosome 5, a 4-cM region proximally flanked by D5S125 (EF(TG/AG)n) and d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4f1e3d95b2b21cffa49445bbcf24b19
https://hdl.handle.net/11370/7a3beb84-e41b-4080-b693-5e2a63a8a4e6

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Presymptomatic diagnosis of SMA III by genotype analysis

Autor: Christina Brahe, Enrico Bertini, Isabella Velonà, Pietro Attilio Tonali, Stefania Zappata, Serenella Servidei, Giovanni Neri

Publikováno v: American Journal of Medical Genetics. 45:408-411

Linkage analysis and prenatal prediction in families segregating autosomal recessive spinal muscular atrophy (SMA) has become feasible since the assignment of the locus responsible for type I-III SMA to region 5q12-q13.3. We have performed a segregat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028c9d696ab710afc8693535316d5967
https://doi.org/10.1002/ajmg.1320450331

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Ultrastructure of the mature sperm and spermiogenesis inCallista chione(Mollusca, Bivalvia)

Autor: Antonietta Nicotra, Stefania Zappata

Publikováno v: Invertebrate Reproduction & Development. 20:213-218

Summary The ultrastructure of the mature spermatozoon and spermiogenesis of the bivalve Callista chione (Heterodonta, Veneridae) are described. As our TEM and SEM observations show the spermatozoon of C. chione may be considered of primitive type. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ccfd4e23930252b24074268b03e69b30
https://doi.org/10.1080/07924259.1991.9672201

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SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

Autor: Christina Brahe, Francesco Danilo Tiziano, Giovanni Neri, Stefania Zappata, Maria Alice Donati, Anna Letizia Patrizi

Publikováno v: European journal of human genetics : EJHG. 7(3)

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the homozygous absence of the telomeric copy of the survival motor neuron (SMNt) gene, due to deletion, gene conversion or point mutation. SMNt and its homologou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e35027ebe79502b24056ca43b8e85fc
https://pubmed.ncbi.nlm.nih.gov/10234506

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Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions

Autor: Christina Brahe, Vito Guzzetta, Giovanni Neri, Generoso Andria, M. Grazia Pomponi, Roberto Della Casa, Fiorella Gurrieri, Stefania Zappata, Laura Vicari, Lucia Perone, Gianfranco Sebastio, Lucia Sebastio, Attilio Mazzei

Publikováno v: American journal of medical genetics. 63(2)

We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short

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https://pubmed.ncbi.nlm.nih.gov/8725787

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Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis

Autor: Riccardo Fodde, C. Brahe, G Neri, G Vandersteege, Chcm Buys, P M Khan, Velona, Ay Vandeveen, C. Tops, Jan Osinga, Stefania Zappata

Publikováno v: Human genetics. 93(5)

The locus responsible for the childhood-onset proximal spinal muscular atrophies (SMA) has recently been mapped to an area of 2-3 Mb in the region q12-q13.3 of chromosome 5. We have used a series of radiation hybrids (RHs) containing distinct parts o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bf49249412f7dcf8c312d577f30c5cf
https://pubmed.ncbi.nlm.nih.gov/8168823

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Highly polymorphic repeat marker within the ?-amyloid precursor protein gene

Autor: Michael B. Petersen, A. Serra, Christina Brahe, Ulrich König, Stylianos E. Antonarakis, Arvinda Chakravarti, Flora Tassone, Jillian Blaschak, Stefania Zappata

Publikováno v: Human Genetics. 93

We have identified a polymorphic compound dinucleotide repeat sequence in intron 1 of the beta-amyloid precursor protein (APP) gene on chromosome 21. Using polymerase chain reaction (PCR) amplification of the locus, designated APPivs1, we detected 13

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https://doi.org/10.1007/bf00218922

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