Joaquín F. Toral: search on Z-Library

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1

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males

Elena Parrini, Isabel Llano Rivas, Joaquin Fernandez Toral, Daniela Pucatti, Sabrina Giglio, Davide Mei, Renzo Guerrini

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 300 KB

english, 2011

2

Neonatal Lupus Erythematosus Mimicking Extensive Capillary Malformation

Vílchez-Márquez, Francisco, Martín-Fuentes, Adriana, Conejero, Raquel, Hernández-Martín, Angela, Colmenero, Isabel, Nieme, Constanza, Fernández-Toral, Joaquín, Torrelo, Antonio

Journal:

Pediatric Dermatology

Year:

2013

Language:

english

File:

PDF, 169 KB

english, 2013

3

Renal involvement in Down syndrome

Serafín Málaga, Rafael Pardo, Ignacio Málaga, Gonzalo Orejas, Joaquín Fernández-Toral

Journal:

Pediatric Nephrology

Year:

2005

Language:

english

File:

PDF, 111 KB

english, 2005

4

Haploinsufficiency of BMP 4 gene may be the underlying cause of Frías syndrome

Martínez-Fernández, María Luisa, Bermejo-Sánchez, Eva, Fernández, Belén, MacDonald, Alexandra, Fernández-Toral, Joaquín, Martínez-Frías, María Luisa

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 3.62 MB

english, 2014

5

Prevalencia del síndrome de down en asturias, 1987-1993

Mosquera Tenreiro, Carmen, Fernández Toral, Joaquín, Espinosa Pérez, Juana, García López, Enrique, González-Rico, Michael, Moro Bayón, Carmen, Riaño Galán, Isolina, Rodríguez Fernández, Adela, Suárez

Journal:

Gaceta Sanitaria

Year:

1996

File:

PDF, 1.70 MB

1996

6

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling

Gandía, Marta, Fernández-Toral, Joaquín, Solanellas, Juan, Domínguez-Ruiz, María, Gómez-Rosas, Elena, del Castillo, Francisco J., Villamar, Manuela, Moreno-Pelayo, Miguel A., del Castillo, Ignacio

Journal:

Pediatric Research

Year:

2015

Language:

english

File:

PDF, 770 KB

english, 2015

7

Frecuencia y tendencia temporal de los defectos congénitos en Asturias. La necesidad de la vigilancia clinicoepidemiológica

Carmen Mosquera Tenreiro, Isolina Riaño Galán, Cristina Rodríguez Dehli, Joaquín Fernández Toral, Carmen Moro Bayón, Adela Rodríguez Fernández, M. Etelvina Suárez Menéndez, Enrique García López, Ferna

Journal:

Gaceta Sanitaria

Year:

2009

File:

PDF, 149 KB

2009

8

Frecuencia de los defectos del tubo neural en Asturias: impacto del diagnóstico prenatal

Enrique García López, Cristina Rodríguez Dehli, Fernando Ariza Hevia, Adela Rodríguez Fernández, Joaquín Fernández Toral, Isolina Riaño Galán, Carmen Mosquera Tenreiro

Journal:

Gaceta Sanitaria

Year:

2009

File:

PDF, 200 KB

2009

9

Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report

Joaquín Fernández-Toral, Laura Rodríguez, Ana Plasencia…

Journal:

Journal of Medical Case Reports

Year:

2010

Language:

english

File:

PDF, 647 KB

english, 2010

10

Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1

Estévez, Amaia Rodríguez, Pérez-Nanclares, Gustavo, Fernández-Toral, Joaquin, Rivas-Crespo, Francisco, López-Siguero, Juan P., Díez, Ignacio, Grau, Gema, Castaño, Luis

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2015

Language:

english

File:

PDF, 831 KB

english, 2015

11

Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects

Rodríguez, Laura, Martínez-Fernández, María Luisa, Mansilla, Elena, Mendioroz, Jacobo, Arteaga, Rosa María, Toral, Joaquín Fernández, Guardia, Nieves Martínez, García, Angel, Centeno, Fernando, Pantoj

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 248 KB

english, 2008

12

PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome

Dr. Eliecer Coto, Joaquín F. Toral, María J. Menéndez, Inés Hernando, Ana Plasencia, Ana Benavides, Carlos López-Larrea

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 440 KB

english, 1995

13

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography

Toru Udaka, Hazuki Samejima, Rika Kosaki, Kenji Kurosawa, Nobuhiko Okamoto, Seiji Mizuno, Yoshio Makita, Hironao Numabe, Joaquín Fernández Toral, Takao Takahashi, Kenjiro Kosaki

Journal:

Congenital Anomalies

Year:

2005

Language:

english

File:

PDF, 172 KB

english, 2005

14

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene

Martín-Hernández, Elena, García-Silva, María Teresa, Quijada-Fraile, Pilar, Rodríguez-García, María Elena, Hernández-Laín, Aurelio, Coca-Robinot, David, Rivera, Henry, Fernández-Toral, Joaquín, Arenas

Journal:

Pediatric and Developmental Pathology

Year:

2016

Language:

english

File:

PDF, 3.21 MB

english, 2016

15

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene

Martín-Hernández, Elena, García-Silva, María Teresa, Quijada-Fraile, Pilar, Rodríguez-García, María Elena, Rivera, Henry, Hernández-Laín, Aurelio, Coca-Robinot, David, Fernández-Toral, Joaquín, Arenas

Journal:

Pediatric and Developmental Pathology

Year:

2017

Language:

english

File:

PDF, 530 KB

english, 2017

16

Síndrome cardiofaciocutáneo con acantosis nigricans

Gómez-Díez, Santiago, Fernández-Toral, Joaquín, Rodríguez-Vigil, Tomás, Manjón, José Antonio, Pérez-Oliva, Narciso

Journal:

Actas Dermo-Sifiliográficas (Spanish Edition)

Year:

2003

File:

PDF, 119 KB

2003

17

Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): A second family

María Luisa Martínez-Frías, Joaquín Fernández Toral, Fermina López-Grondona, Jacobo Mendioroz, Eva Bermejo

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 177 KB

english, 2005

18

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

Martínez-Fernández, María Luisa, Fernández-Toral, Joaquin, Llano-Rivas, Isabel, Bermejo-Sánchez, Eva, MacDonald, Alexandra, Martínez-Frías, María Luisa

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 11.02 MB

english, 2015

19

Signals

Ramírez-Pacheco, Julio, Toral-Cruz, Homero, Rizo-Domínguez, Luis, Cortez-Gonzalez, Joaquin

Journal:

Advances in Mathematical Physics

Year:

2015

Language:

english

File:

PDF, 4.65 MB

english, 2015

20

A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude Syndrome

LORENA MIÑONES-SUÁREZ, ALBERTO MAS-VIDAL, JOAQUIN FERNANDEZ-TORAL, ISABEL LLANO-RIVAS, MANUEL GONZÁLEZ-GARCÍA

Journal:

Pediatric Dermatology

Year:

2012

Language:

english

File:

PDF, 220 KB

english, 2012

21

A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion

Rodríguez, Laura, Bhatt, Samarth S., García-Castro, Mónica, Plasencia, Ana, Fernández-Toral, Joaquín, Abarca, Elena, de Bello Cioffi, Marcelo, Liehr, Thomas

Journal:

Year:

2014

Language:

english

File:

PDF, 770 KB

english, 2014

22

High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q

Mario A.J.A. Hermsen, Marianne Tijssen, Ines Hernando Acero, Gerrit A. Meijer, Bauke Ylstra, Joaquín Fernández Toral

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 252 KB

english, 2005

23

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: Description of a second patient and exclusion of HOXD13

Jacobo Mendioroz, Joaquín Fernández-Toral, Etelvina Suárez, Fermina López-Grondona, Klaus W. Kjaer, Eva Bermejo, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 108 KB

english, 2005

24

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

Bárcena, Clea, Quesada, Víctor, De Sandre-Giovannoli, Annachiara, Puente, Diana A, Fernández-Toral, Joaquín, Sigaudy, Sabine, Baban, Anwar, Lévy, Nicolas, Velasco, Gloria, López-Otín, Carlos

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 548 KB

english, 2014

25

Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person

Matthew R. Fickie, Pablo Lapunzina, Jennifer K. Gentile, Nina Tolkoff-Rubin, Daniela Kroshinsky, Enrique Galan, Esther Gean, Loreto Martorell, Valeria Romanelli, Joaquín Fernandez Toral, Angela E. Lin

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 510 KB

english, 2011

26

Frecuencia del síndrome de Down en Asturias y tendencia temporal, 1990–2004

Carmen Mosquera Tenreiro, Fernando Ariza Hevia, Cristina Rodríguez Dehli, Joaquín Fernández Toral, Enrique García López, Isolina Riaño Galán

Journal:

Medicina Clínica

Year:

2009

File:

PDF, 156 KB

2009

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