Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Autor: Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF, Lapunzina P, SOGRI Consortium

Publikováno v: EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FISABIO. Repositorio Institucional de Producción Científica

Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially duri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::34d492a748f434f436b30adbe0a66ffd
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16830

Efficient Recreation of t(11;22) EWSR1-FLI1(+) in Human Stem Cells Using CRISPR/Cas9

Autor: Torres-Ruiz, R, Martinez-Lage, M, Martin, MC, Garcia, A, Bueno, C, Castano, J, Ramirez, JC, Menendez, P, Cigudosa, JC, Rodriguez-Perales, S

Publikováno v: Stem Cell Reports
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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Efficient methodologies for recreating cancer-associated chromosome translocations are in high demand as tools for investigating how such events initiate cancer. The CRISPR/Cas9 system has been used to reconstruct the genetics of these complex rearra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::7ab6c5bf7ed97e6d1425e66c8f16a71b
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7529

Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes

Autor: Blanca Espinet, Francesc Solé, E. Arranz, Maria-Jose Calasanz, J.L. Diez, Guillermo Sanz, José Cervera, J A Martinez Climent, Soledad Woessner, Cigudosa Jc, M L Marqués, Isabel Granada, E Bureo, F. Prieto, Elisa Luño, Teresa Vallespi, Lourdes Florensa, J M Hernández, Rafael Rios

Publikováno v: British Journal of Haematology. 108:346-356

Recently, a consensus International Prognostic Scoring System (IPSS) for predicting outcome and planning therapy in the myelodysplastic syndromes (MDS) has been developed. However, the intermediate-risk cytogenetic subgroup defined by the IPSS includ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c35cbdef886c6f0b11ad092552a7b169
https://doi.org/10.1046/j.1365-2141.2000.01868.x

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci

Autor: Monfort S, Blesa D, Ramírez P, Orellana C, Oltra S, Cigudosa JC

Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::17352d278c23697dd692dfcc9c969b9b
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3811

Analysis of myelodysplastic syndromes with complex karyotypes by high-resolution comparative genomic hybridization and subtelomeric CGH array

Autor: Martinez-Ramirez, A, Urioste, M, Melchor, L, Blesa, D, Valle, L, de Andres, SA, Kok, K, Calasanz, MJ, Cigudosa, JC, Benitez, J

Publikováno v: GENES CHROMOSOMES & CANCER, 42(3), 287-298. Wiley

Molecular cytogenetic techniques enabled us to clarify numerical and structural alterations previously detected by conventional cytogenetic techniques in 37 patients who had myelodysplastic syndromes with complex karyotypes. Using high-resolution com

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::8765a505a584df1f76404285ba12c9e9
https://research.rug.nl/en/publications/01b8d681-0e6d-47b3-a6b3-89d178134322