Tizzano, Eduardo F: search on Z-Library

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51

Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio

Castells-Sarret, Neus, Cueto-González, Anna M., Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto

Journal:

Anales de Pediatría

Year:

2017

File:

PDF, 1.38 MB

2017

52

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

Kirschner, Janbernd, Butoianu, Nina, Goemans, Nathalie, Haberlova, Jana, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, van der Pol, W. Ludo, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., Zi

Journal:

European Journal of Paediatric Neurology

Year:

2020

File:

PDF, 593 KB

2020

53

The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe

PeÃ±a-Longobardo, Luz MarÃa, Aranda-Reneo, Isaac, Oliva-Moreno, Juan, Litzkendorf, Svenja, Durand-Zaleski, Isabelle, Tizzano, Eduardo, LÃ³pez-Bastida, Julio

Journal:

International Journal of Environmental Research and Public Health

Year:

2020

File:

PDF, 507 KB

2020

54

The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation

Martínez-Hernández, Rebeca, Soler-Botija, Carolina, Also, Eva, Alias, Laura, Caselles, Lidia, Gich, Ignasi, Bernal, Sara, Tizzano, Eduardo F.

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2009

Language:

english

File:

PDF, 1.20 MB

english, 2009

55

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation

Valenzuela, Irene, Fernández-Alvarez, Paula, Munell, Francina, Sanchez-Montanez, Angel, Giralt, Gemma, Vendrell, Teresa, Tizzano, Eduardo F.

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 703 KB

english, 2017

56

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient

Cueto-GonzÃ¡lez, Anna M., FernÃ¡ndez-Cancio, MÃ³nica, FernÃ¡ndez-Alvarez, Paula, GarcÃa-ArumÃ, Elena, Tizzano, Eduardo F.

Journal:

Human Genome Variation

Year:

2020

File:

PDF, 437 KB

2020

57

Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy

Olga Tapia, Rocío Bengoechea, Ana Palanca, Rosa Arteaga, J. Fernando Val-Bernal, Eduardo F. Tizzano, María T. Berciano, Miguel Lafarga

Journal:

Histochemistry and Cell Biology

Year:

2012

Language:

english

File:

PDF, 955 KB

english, 2012

58

Synaptic defects in type I spinal muscular atrophy in human development

Martínez-Hernández, Rebeca, Bernal, Sara, Also-Rallo, Eva, Alías, Laura, Barceló, MaJesús, Hereu, Marta, Esquerda, Josep E, Tizzano, Eduardo F

Journal:

The Journal of Pathology

Year:

2013

Language:

english

File:

PDF, 6.13 MB

english, 2013

59

Skeletal abnormalities are common features in Aymé‐Gripp syndrome

Niceta, Marcello, Barbuti, Domenico, Gupta, Neerja, Ruggiero, Carlos, Tizzano, Eduardo F., Graul‐Neumann, Luitgard, Barresi, Sabina, Nishimura, Gen, Valenzuela, Irene, Grondona, Fermina López, Fernand

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 3.25 MB

english, 2019

60

X-InDels efficacy evaluation in a critical samples paternity case: A Spanish Civil War case from the memorial of the camposines (Tarragona, Spain)

Gomes, ClÃ¡udia, Palomo-DÃez, Sara, Baeza-Richer, Carlos, LÃ³pez-Parra, Ana MarÃa, CuscÃ³, Ivon, Garcia-ArumÃ, Elena, Tizzano, Eduardo, FernÃ¡ndez-Vilela, Andrea, LÃ³pez-Onaindia, Diego, Vidal Aixa

Journal:

Forensic Science International: Genetics Supplement Series

Year:

2019

File:

PDF, 156 KB

2019

61

Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: Clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients

Josep Gamez, Eva Also, Laura Alias, Marc Corbera-Bellalta, Maria J. Barceló, Maria Centeno, Nuria Raguer, Margarita Gratacós, Montserrat Baiget, Eduardo F. Tizzano

Journal:

Clinical Neurology and Neurosurgery

Year:

2007

Language:

english

File:

PDF, 101 KB

english, 2007

62

Cystic fibrosis: Beyond the gene to therapy

Eduardo F. Tizzano, Manuel Buchwald

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 1.24 MB

english, 1992

63

Should gamete donors be tested for spinal muscular atrophy?

Eduardo F. Tizzano, Ivón Cuscó, Marı́a Jesús Barceló, Juan Parra, Montserrat Baiget

Journal:

Fertility and Sterility

Year:

2002

Language:

english

File:

PDF, 63 KB

english, 2002

64

FGFR1 Mosaic Pathogenic Variant in Encephalocraniocutaneous Lipomatosis with Leptomeningeal Angiomatosis

GÃ³mez-GarcÃa de la Banda, Marta, FernÃ¡ndez-Ãlvarez, Paula, SÃ¡nchez-MontaÃ±ez GarcÃa-Carpintero, Ãngel, GarcÃa-Patos, VicenÃ§, Tizzano, Eduardo F., Boronat, Susana

Journal:

Journal of Pediatric Neurology

Year:

2020

File:

PDF, 292 KB

2020

65

Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy

Alias, Laura, Barceló, Maria J, Gich, Ignasi, Estapé, Marta, Parra, Juan, Amenedo, Maria, Baiget, Montserrat, Tizzano, Eduardo F

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 96 KB

english, 2007

66

Spinal muscular atrophy: a changing phenotype beyond the clinical trials

Tizzano, Eduardo F., Finkel, Richard S.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

67

Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord

Carolina Soler-Botija, Ivón Cuscó, Eva López, Agustín Clua, Ignasi Gich, Montserrat Baiget, Isidre Ferrer, Eduardo F. Tizzano

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 287 KB

english, 2005

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