Добірка наукової літератури з теми "Autosomico recessivo"
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Статті в журналах з теми "Autosomico recessivo"
Cirulli, Catia. "L'ARPKD in 4 sessioni e una fiaba illustrata." Giornale di Clinica Nefrologica e Dialisi 26, no. 3 (October 20, 2014): 306–9. http://dx.doi.org/10.33393/gcnd.2014.927.
Повний текст джерелаCuneo, G., C. Cesarini, D. Cianfrini, and B. Gambi. "Osteopetrosi autosomica recessiva Diagnosi neonatale." Rivista di Neuroradiologia 15, no. 6 (December 2002): 757–62. http://dx.doi.org/10.1177/197140090201500615.
Повний текст джерелаBasekim, C. C., E. Kizilkaya, A. M. Kutlay, and A. F. Karsli. "Proteinosi lipidica con calcificazioni ippocampali." Rivista di Neuroradiologia 8, no. 4 (August 1995): 589–91. http://dx.doi.org/10.1177/197140099500800415.
Повний текст джерелаTarasyuk, B. A., I. V. Andruschenko, and I. S. Lukyanova. "The ultrasound signs of autosomic recessive policystic kidney disease in children." PERINATOLOGIYA I PEDIATRIYA, no. 2(62) (July 15, 2015): 77–80. http://dx.doi.org/10.15574/pp.2015.62.77.
Повний текст джерелаBattistella, P. A., P. Bertoli, F. Rossetti, L. Zanesco, G. Audino, and A. Peserico. "Rilievo RM di dismielinizzazione in una rara sindrome neurocutanea PIBI(D)S." Rivista di Neuroradiologia 5, no. 1_suppl (April 1992): 71–74. http://dx.doi.org/10.1177/19714009920050s113.
Повний текст джерелаChebil, A., l. Largueche, F. Kort, A. Hassairi, I. Habibi, F. Munier, and l. El Matri. "Clinical aspects of Autosomic Recessive Retinitis Pigmentosa Caused by USH2A Mutations in Consanguineous Tunisian Families." Acta Ophthalmologica 93 (September 23, 2015): n/a. http://dx.doi.org/10.1111/j.1755-3768.2015.0465.
Повний текст джерелаSvahn, Johanna, and Carlo Dufour. "Fanconi anemia - learning from children." Pediatric Reports 3, no. 2s (June 17, 2011): 8. http://dx.doi.org/10.4081/pr.2011.s2.e8.
Повний текст джерелаMartini, Mariano, Maria Francesca Vardeu, Filippo Paluan, Nicola Luigi Bragazzi, and Cristina Tornali. "La storia della beta talassemia in Sardegna." Acta medico-historica Adriatica 17, no. 1 (July 1, 2019): 65–90. http://dx.doi.org/10.31952/amha.17.1.4.
Повний текст джерелаGuimarães, Susana, José Manuel Lopes, José Bessa Oliveira, and Agostinho Santos. "Idiopathic Infantile Arterial Calcification: A Rare Cause of Sudden Unexpected Death in Childhood." Pathology Research International 2010 (July 27, 2010): 1–5. http://dx.doi.org/10.4061/2010/185314.
Повний текст джерелаOrtega-Arellano, Hector Flavio, Marlene Jimenez-Del-Rio, and Carlos Velez-Pardo. "Minocycline protects, rescues and prevents knockdown transgenic parkin Drosophila against paraquat/iron toxicity: Implications for autosomic recessive juvenile parkinsonism." NeuroToxicology 60 (May 2017): 42–53. http://dx.doi.org/10.1016/j.neuro.2017.03.002.
Повний текст джерелаДисертації з теми "Autosomico recessivo"
BORRECA, ANTONELLA. "Studio clinico e molecolare di forme autosomiche recessive di paraparesi spastica ereditaria." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2009. http://hdl.handle.net/2108/853.
Повний текст джерелаHereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of neurodegenative disorders. The predominant symptom of HSP is the degeneration of upper motoneurons and their corticospinal tract axons. They are classified genetically into autosomal dominant (ADHSP), autosomal recessive (ARHSP), and X-linked HSP forms. The clinical classification may distinguish between pure and complicated forms of HSP based on the presence of neurological or non neurological symptoms associated to spasticity. This study aims at genetic-molecular investigation of families affected by a complicated form of ARHSP with thin corpus callosum (ARHSP-TCC), families affected by a pure form of ARHSP, and apparently sporadic cases. The study of the ARHSP cases with TCC was carried out by linkage analysis. The next geneticmolecular screening of families in linkage with SPG11 locus was based on HRM, CSCE, and direct sequencing techniques. These techniques was also used for the screening of pure and complicated forms and apparently sporadic cases of HSP. In particular we performed a linkage study on 14 ARHSP-TCC families to identify a probably association between HSP and the SPG11 locus. The analysis revealed 5 pedigrees in linkage with SPG11. The next screening of 40 exons of the SPG11 gene on probands of the families revealed 5 mutations; three of these mutations were just reported in literature. After that, the remaining families with ARHSP and the apparently sporadic cases were analyzed for SPG7 and SPG5A genes. Two probands of the families, one of which complicated by TCC, were positive to mutational screening of the gene SPG5A; two identified mutations were novel. On the other hand, the SPG7 analysis has not revealed patogenetic mutations, but only polymorphisms reported in literature. These results confirm data observed in literature according to which the SPG7 gene is not a frequent cause of ARHSP while the SPG5A and SPG11 genes show an high mutational frequency in ARHSP and ARHSP-TCC (respectively 7% and 28%).
Bernal, Noguera Sara. "Estudi de les bases moleculars de la retinosi pigmentària autosomica recessiva: anàlisi dels gens RLBP1, CRBP1, RGR, CRB1 I USH2A." Doctoral thesis, Universitat Autònoma de Barcelona, 2004. http://hdl.handle.net/10803/3752.
Повний текст джерелаPrevis estudis han descrit mutacions en els gens PDEB, ABCA4, TULP1 i CNGA1 en un petit percentatge de famílies espanyoles amb RPAR. Aquestes dades indiquen que altres gens poden estar involucrats en la patologia de les restants famílies analitzades, emfatitzant l'elevada heterogeneïtat genètica present en aquesta malaltia i reforçant la hipòtesi que en la RPAR no hi ha un únic gen principal sinó que existirien varis gens on cadascun d'ells explicaria un petit número de casos.
Hem analitzat la implicació de cinc gens addicionals que codifiquen per: la proteïna d'unió al retinaldehid (gen RLBP1), el receptor acoplat a proteïna G de l'EPR (gen RGR), la proteïna cel·lular d'unió al retinol (gen CRBP1), crumbs homologue 1 (gen CRB1) i la usherina (gen USH2A) en famílies espanyoles amb RPAR.
Malgrat que en els gens RLBP1, RGR i CRBP1 s'han detectat diversos polimorfismes tant a nivell exònic com intrònic, no s'ha trobat cap mutació associada a la malaltia, suggerint que aquests gens probablement no estarien implicats en la patologia d'aquest grup de famílies espanyoles amb RPAR. En canvi, l'anàlisi mutacional dels gens CRB1 i USH2A ha permès la identificació de vàries variants rares, polimorfismes intrònics i diverses mutacions patològiques en el grup analitzat de pacients espanyols amb RPAR. L'ample rang de fenotips associats amb les mutacions trobades en els gens CRB1 i USH2A reflexa que les relacions entre les mutacions patològiques i el fenotip de la malaltia esdevenen cada cop més complexes.
La síndrome d'Usher és la forma més freqüent de la RP sindròmica. Clínicament es caracteritza per una sordesa congènita i neurosensorial associada a RP. En un grup de pacients afectats amb la síndrome d'Usher tipus II es van detectar vàries mutacions patològiques en el gen USH2A. Els diferents fenotips associats amb les mutacions en el gen USH2A van revelar una important heterogeneïtat clínica en aquest grup de pacients. Aquests resultats junt amb els descrits en altres treballs confirmen una gran heterogeneïtat fenotipíca presentada per les mutacions en el gen USH2A, que va des de diferents tipus de la síndrome d'Usher fins a la RP no sindròmica.
Retinitis Pigmentosa (RP) is the term applied to a clinically and genetically heterogeneous group of retinal degeneration. Clinically is characterised by night blindness and constriction of visual fields, leading to complete blindness. RP can be inherited in either an autosomal dominant (ADRP), autosomal recessive (ARRP), X-linked (XLRP), or digenic mode.
Previous studies have described mutations in the PDEB, ABCA4, TULP1 and CNGA1 genes in a small percentage of Spanish ARRP families. These data indicates that other than these genes may be involved in the remaining families analysed, emphasising the genetic heterogeneity of the disease and reinforcing the hypothesis that in ARRP there is no a major gene but several genes may account individually for a small number of cases.
We analysed the involvement of five additional genes: the retinaldehyde-binding protein 1 (RLBP1 gene), the RPE retinal G protein-coupled receptor (RGR gene), the cellular retinol-binding protein 1 (CRBP1 gene), the crumbs homologue 1 (CRB1 gene) and usherin (USH2A gene) in ARRP Spanish families.
Several exonic and intronic polymorphisms were detected in the RLBP1, RGR and CRBP1 genes. However, no disease-causing mutations were found, suggesting that these genes be most probably not involved in the disease in this set of ARRP Spanish pedigrees. In contrast, the mutational analysis of the CRB1 and USH2A genes allowed the identification of a number of rare sequence variants and intronic polymorphisms, and of several pathogenic mutations in the group of ARRP Spanish patients analysed. The wide range of phenotypes associated with mutations found in CRB1 and USH2A genes underlines how the relationship between pathogenic mutations and disease phenotype is becoming increasingly complex.
The Usher syndrome is the most frequent syndromic RP. Clinically is characterised by congenital sensorineural hearing loss and RP. Several pathogenic mutations in USH2A gene were detected in a group of Usher syndrome type II patients. Different phenotypes associated with mutations in USH2A gene revealed an important heterogeneity clinical in this group of patients. The results presented here together with that in previous reports confirm a great phenotypic heterogeneity arising from mutations in USH2A gene, which ranges from distinct types of Usher syndrome to non-syndromic retinitis pigmentosa.
Guilbot, Angèle. "La maladie de charcot-marie-tooth de type demyelinisant : vers l'identification du gene responsable d'une forme autosomique recessive liee au chromosome 5." Paris 5, 2000. http://www.theses.fr/2000PA05N037.
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