Výsledky vyhledávání

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1

Autor: A. García de Jalón, J. Burriel, M. T. Calvo, Antonio Antón, A. Rodriguez, E. Barrio, Lorente F, A. Herrero, M. D. Miramar

Publikováno v: Breast Cancer Research and Treatment. 112:353-358

We screened BRCA1 and BRCA2 germline mutations in 60 high-risk breast and/or ovarian cancer patients and 20 relatives from Aragon (Spain) by DHPLC (Denaturing High Performance Liquid Chromatography) and direct sequencing of the entire coding sequence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a74b94d720bd601002a7690dea94d9c
https://doi.org/10.1007/s10549-007-9868-1

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[Prader-Willi and Angelman syndromes: 21 years of experience]

Autor: D, Royo Pérez, L, Monge Galindo, J, López Pisón, R, Pérez Delgado, M, Lafuente Hidalgo, J L, Peña Segura, M D, Miramar Gallart, A, Rodriguez Valle, M T, Calvo Martín

Publikováno v: Anales de pediatria (Barcelona, Spain : 2003). 77(3)

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) were the first syndromes in humans that were known to originate from the phenomenon of the genomic imprinting. We review our experience of 21 years with PWS and AS that were confirmed with the ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d0cc3d0df370c614ad7e5a6d1994d83e
https://pubmed.ncbi.nlm.nih.gov/22406156

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[Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism.]

Autor: A, de Arriba Muñoz, J I, Labarta Aizpún, E Mayayo, Dehesa, M T, Calvo, G, Pérez de Nanclares, A, Ferrández-Longás

Publikováno v: Anales de pediatria (Barcelona, Spain : 2003). 74(2)

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine diseases characterised by hypocalcaemia, hyperphosphataemia and resistance to PTH. There are different forms of PHP. PHP-Ia is the most frequent form and shows multi-hormonal resist

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::839b00b54c8ea5bf9b8a1d22b9a4d849
https://pubmed.ncbi.nlm.nih.gov/21169072

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[Myotonic dystrophy. 18 years experience in a neuropaediatric clinic]

Autor: Y, Armendáriz-Cuevas, J, López-Pisón, M T, Calvo-Martín, V Rebage, Moisés, J L, Peña-Segura

Publikováno v: Anales de pediatria (Barcelona, Spain : 2003). 72(2)

Myotonic dystrophy is a highly variable autosomic dominant inherited multisystemic disease. We review our 18 years experience with patients suffering from this disease.Eleven patients were identified following a molecular genetic study: 2 patients di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a716f852ecee388cca7e463588554630
https://pubmed.ncbi.nlm.nih.gov/20005190

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[Hereditary juvenile cobalamin deficiency due to mutations in GIF gene]

Autor: M C, García Jiménez, A, Baldellou Vázquez, M T, Calvo Martín, G, Pérez-Lungmus, J, López Pisón

Publikováno v: Anales de pediatria (Barcelona, Spain : 2003). 69(1)

Inborn errors of cobalamin (Cbl) metabolism affect its absorption, transport, as well as its intracellular metabolism. Hereditary juvenile megaloblastic anaemia due to cobalamin deficiency, results from defects in Cbl absorption. There is a lack of v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bb325f75da53bfd58e1e4c1e471ef74d
https://pubmed.ncbi.nlm.nih.gov/18620679

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Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry

Autor: Jordi Rosell, Teresa Casals, Damian Heine-Suñer, M. T. Calvo, J. J. Telleria, Maria D. Ramos, M. J. Alonso, Javier Giménez, A. Palacio, Xavier Estivill

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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We analyzed 1,954 Spanish cystic fibrosis (CF) alleles in order to define the molecular spectrum of mutations in the CFTR gene in Spanish CF patients. Commercial panels showed a limited detection power, leading to the identification of only 76% of al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5370aba21da5965a49af8cfc35a1dc
http://hdl.handle.net/10261/72774

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[Prevalence of methylenetetrahydrofolate reductase C677T mutation among patients with acute ischemic cerebrovascular disease in Aragon]

Autor: B, Sánchez-Marín, J M, Grasa, M, Torres, M T, Calvo, B, Martínez-Jarreta, J A, García-Erce, M, Giralt

Publikováno v: Anales de medicina interna (Madrid, Spain : 1984). 23(4)

Mutation C677T of the methylenetetrahydrofolate reductase (MTHFR) is the main cause of mild hyperhomocysteinemia. Hyperhomocysteinemia is a recognized risk factor for aterothrombosis. MTHFR C677T patients have higher levels of homocysteine in absence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e08db34d6fd26b0a0c7c482634a52fd7
https://pubmed.ncbi.nlm.nih.gov/16796406

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Prevalencia de la mutación C677T del gen de la metilentetrahidrofolato reductasa en pacientes con patología isquémica cerebrovascular aguda en la Comunidad Autónoma Aragonesa

Autor: J M Grasa, B Martínez-Jarreta, M T Calvo, M Torres, J A García-Erce, B. Sánchez-Marín, M Giralt

Publikováno v: Anales de Medicina Interna v.23 n.4 2006
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
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Fundamentos: La mutación C677T de la metilentetrahidrofolato reductasa (MTHFR) es la principal causa de hiperhomocisteinemia moderada en nuestro medio. La hiperhomocisteinemia es un factor reconocido de riesgo para aterotrombosis. Los pacientes con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ab744c0f7048094f1d3d4292ffb853
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0212-71992006000400002

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[Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years]

Autor: J, López-Pisón, V, Rebage, A, Baldellou-Vázquez, J L, Capablo-Liesa, J, Colomer, M T, Calvo, A, Sáenz de Cabezón, J, Alfaro-Torres, C, del Agua, M, Bestué, J L, Peña-Segura

Publikováno v: Revista de neurologia. 41(3)

Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cc46c3bab1855fc705df7f2c667fb00e
https://pubmed.ncbi.nlm.nih.gov/16047297

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