Pesquisa | BVS Violência e Saúde

1.

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Soengas-Gonda, Emma; Pérez de la Fuente, Rubén; Arteche-López, Ana; Gómez-Cano, María de Los Ángeles; Quesada-Espinosa, Juan Francisco; Palma Milla, Carmen; Lezana Rosales, José Miguel; Mayo de Andrés, Sonia; Sánchez-Calvín, María Teresa; Gómez-Rodríguez, María José; Sierra Tomillo, Olalla; Juarez Rufian, Alexandra; Ramos Gomez, Patricia; Herrero-Forte, Clara; Fenollar-Cortés, Maria; Cotarelo-Pérez, Carmen; García Ron, Adrián; Pérez Rodríguez, Olga; Oancea-Ionescu, Raluca; Moreno-García, Marta.

Neuropediatrics ; 54(1): 31-36, 2023 02.

Artigo em Inglês | MEDLINE | ID: mdl-36126956

2.

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Alvarez-Mora, Maria Isabel; Blanco-Palmero, Victor Antonio; Quesada-Espinosa, Juan Francisco; Arteche-Lopez, Ana Rosa; Llamas-Velasco, Sara; Palma Milla, Carmen; Lezana Rosales, Jose Miguel; Gomez-Manjon, Irene; Hernandez-Lain, Aurelio; Jimenez Almonacid, Justino; Gil-Fournier, Belén; Ramiro-León, Soraya; González-Sánchez, Marta; Herrero-San Martín, Alejandro Octavio; Pérez-Martínez, David Andrés; Gómez-Tortosa, Estrella; Carro, Eva; Bartolomé, Fernando; Gomez-Rodriguez, Maria Jose; Sanchez-Calvin, María Teresa; Villarejo-Galende, Alberto; Moreno-Garcia, Marta.

Int J Mol Sci ; 23(8)2022 Apr 11.

Artigo em Inglês | MEDLINE | ID: mdl-35457051

3.

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

Quesada-Espinosa, Juan F; Garzón-Lorenzo, Lucía; Lezana-Rosales, José M; Gómez-Rodríguez, María J; Sánchez-Calvin, María T; Palma-Milla, Carmen; Gómez-Manjón, Irene; Hidalgo-Mayoral, Irene; Pérez de la Fuente, Rubén; Arteche-López, Ana; Álvarez-Mora, María I; Camacho-Salas, Ana; Cruz-Rojo, Jaime; Lázaro-Rodríguez, Irene; Morales-Conejo, Montserrat; Nuñez-Enamorado, Noemí; Bustamante-Aragones, Ana; Simón de Las Heras, Rogelio; Gomez-Cano, María A; Ramos-Gómez, Patricia; Sierra-Tomillo, Ollalla; Juárez-Rufián, Alexandra; Gallego-Merlo, Jesús; Rausell-Sánchez, Laura; Moreno-García, Marta; Sánchez Del Pozo, Jaime.

Neurogenetics ; 22(4): 343-346, 2021 10.

Artigo em Inglês | MEDLINE | ID: mdl-34296368

4.

First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.

Moreno-García, Marta; Arteche-López, Ana Rosa; Álvarez-Mora, María Isabel; Palma Milla, Carmen; Quesada Espinosa, Juan Francisco; Lezana Rosales, José Miguel; Sánchez Calvín, María Teresa; Gómez Manjón, Irene; Gómez Rodríguez, María José; Mendez-Guerrero, Antonio; Villarejo-Galende, Alberto.

Am J Med Genet A ; 185(2): 591-595, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33305890

5.

A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.

Palma Milla, Carmen; Patricia, Pérez Mohand; Lezana, José M; Cruz, Jaime; Quesada, Juan F; Vila, Sara; Álvarez-Mora, Isabel; Arteche-López, Ana; Gómez-Manjón, Irene; Sánchez, M Teresa; Gómez-Rodríguez, Maria José; Sánchez, Jaime; Moreno-García, Marta.

J Pediatr Genet ; 12(3): 254-257, 2023 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-37575653

6.

Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study.

Fernández-Martínez, F Javier; Galindo, Alberto; Garcia-Burguillo, Antonio; Vargas-Gallego, Carmela; Nogués, Nuria; Moreno-García, Marta; Moreno-Izquierdo, Ana.

Genet Med ; 14(1): 101-6, 2012 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-22237438

7.

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.

Gómez-Rodríguez, Maria Jose; Morales-Conejo, Montserrat; Arteche-López, Ana; Sánchez-Calvín, Maria Teresa; Quesada-Espinosa, Juan Francisco; Gómez-Manjón, Irene; Palma-Milla, Carmen; Lezana-Rosales, Jose Miguel; Pérez de la Fuente, Ruben; Martin-Ramos, Maria-Luisa; Fernández-Guijarro, Manuela; Moreno-García, Marta; Alvarez-Mora, Maria Isabel.

Genes (Basel) ; 13(9)2022 09 08.

Artigo em Inglês | MEDLINE | ID: mdl-36140775

8.

Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.

Hidalgo Mayoral, Irene; Martínez-Salio, Antonio; Llamas-Velasco, Sara; Gómez-Majón, Irene; Arteche-López, Ana; Quesada-Espinosa, Juan Francisco; Palma Milla, Carmen; Lezana Rosales, Jose Miguel; Pérez de la Fuente, Rubén; Juárez Rufián, Alexandra; Sierra Tomillo, Olalla; Sánchez Calvín, Maria Teresa; Gómez Rodríguez, Maria José; Ramos Gómez, Patricia; Villarejo-Galende, Alberto; Díaz-Guzmán, Jaime; Ortega-Casarrubios, Maria Ángeles; Calleja-Castaño, Patricia; Moreno-García, Marta.

Eur J Med Genet ; 65(8): 104539, 2022 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-35705147

9.

Pathological and sub-pathological changes in European rabbit bones: Two reference cases to be applied to the analysis of archaeological assemblages.

Lloveras, Lluís; Thomas, Richard; Moreno-García, Marta; Nadal, Jordi; Tomàs-Gimeno, Xavier; Rissech, Carme; Bellis, Lauren.

Int J Paleopathol ; 34: 90-100, 2021 09.

Artigo em Inglês | MEDLINE | ID: mdl-34218136

10.

Investigating Neolithic caprine husbandry in the Central Pyrenees: Insights from a multi-proxy study at Els Trocs cave (Bisaurri, Spain).

Tejedor-Rodríguez, Cristina; Moreno-García, Marta; Tornero, Carlos; Hoffmann, Alizé; García-Martínez de Lagrán, Íñigo; Arcusa-Magallón, Héctor; Garrido-Pena, Rafael; Royo-Guillén, José Ignacio; Díaz-Navarro, Sonia; Peña-Chocarro, Leonor; Alt, Kurt W; Rojo-Guerra, Manuel.

PLoS One ; 16(1): e0244139, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-33406086

11.

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Arteche-López, Ana; Gómez Rodríguez, Maria José; Sánchez Calvin, Maria Teresa; Quesada-Espinosa, Juan Francisco; Lezana Rosales, Jose Miguel; Palma Milla, Carmen; Gómez-Manjón, Irene; Hidalgo Mayoral, Irene; Pérez de la Fuente, Rubén; Díaz de Bustamante, Arancha; Darnaude, María Teresa; Gil-Fournier, Belén; Ramiro León, Soraya; Ramos Gómez, Patricia; Sierra Tomillo, Olalla; Juárez Rufián, Alexandra; Arranz Cano, Maria Isabel; Villares Alonso, Rebeca; Morales-Pérez, Pablo; Segura-Tudela, Alejandro; Camacho, Ana; Nuñez, Noemí; Simón, Rogelio; Moreno-García, Marta; Alvarez-Mora, Maria Isabel.

Genes (Basel) ; 12(4)2021 04 12.

Artigo em Inglês | MEDLINE | ID: mdl-33921431

12.

Genetic turnovers and northern survival during the last glacial maximum in European brown bears.

Ersmark, Erik; Baryshnikov, Gennady; Higham, Thomas; Argant, Alain; Castaños, Pedro; Döppes, Doris; Gasparik, Mihaly; Germonpré, Mietje; Lidén, Kerstin; Lipecki, Grzegorz; Marciszak, Adrian; Miller, Rebecca; Moreno-García, Marta; Pacher, Martina; Robu, Marius; Rodriguez-Varela, Ricardo; Rojo Guerra, Manuel; Sabol, Martin; Spassov, Nikolai; Storå, Jan; Valdiosera, Christina; Villaluenga, Aritza; Stewart, John R; Dalén, Love.

Ecol Evol ; 9(10): 5891-5905, 2019 May.

Artigo em Inglês | MEDLINE | ID: mdl-31161006

13.

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

Gómez-Manjón, Irene; Moreno-Izquierdo, Ana; Mayo, Sonia; Moreno-García, Marta; Delmiro, Aitor; Escribano, David; Fernández-Martínez, F Javier.

Biomed Res Int ; 2018: 9498140, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29977923

14.

Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations.

Belar, Oihana; Del Pozo, Jaime Sanchez; Moreno-García, Marta; Cruz-Rojo, Jaime; Garin, Intza; de Nanclares, Guiomar Perez.

Am J Med Genet A ; 152A(11): 2901-5, 2010 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-20949536

15.

[Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes]. / Variabilidad del fenotipo del sindrome de microdelecion 1q21.1 dentro de una misma familia: importancia de la deteccion de trastornos neuropsiquiatricos para el diagnostico de sindromes geneticos.

Natera-De Benito, Daniel; Vidal-Esteban, Arantxa; Sanchez-Del Pozo, Jaime; Moreno-Garcia, Marta; Suela-Rubio, Javier; Cruz-Rojo, Jaime; Rivero-Martin, María José.

Rev Neurol ; 61(12): 550-6, 2015 Dec 16.

Artigo em Espanhol | MEDLINE | ID: mdl-26662873

16.

Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review.

Moreno-García, Marta; Sánchez Del Pozo, Jaime; Cruz-Rojo, Jaime; Fernández-Martínez, Francisco Javier; Perez-Nanclares Leal, Guiomar.

Clin Dysmorphol ; 21(3): 172-176, 2012 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-22525095

17.

Chromosomal anomalies in patients with short stature.

Moreno-García, Marta; Fernández-Martínez, Francisco Javier; Barreiro Miranda, Emilia.

Pediatr Int ; 47(5): 546-9, 2005 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-16190962

18.

Chromosomal anomalies in cryptorchidism and hypospadias.

Moreno-Garcia, Marta; Miranda, Emilia Barreiro.

J Urol ; 168(5): 2170-2; discussion 2172, 2002 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-12394752

19.

SRY-positive 46,XX male with cryptorchidism as the only presenting clinical feature.

Moreno-García, Marta; Sánchez Del Pozo, Jaime; Gutierrez-Díez, Pilar; Gil-Fournier, Belén; Barreiro Miranda, Emilia.

Urol Int ; 71(2): 219-21, 2003.

Artigo em Inglês | MEDLINE | ID: mdl-12890966

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