Perez-Aytes, A.: search on Z-Library

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1

In silico identification of new candidate genes for hereditary congenital facial paresis

Laura Tomás-Roca, Antonio Pérez-Aytés, Luis Puelles, Faustino Marín

Journal:

International Journal of Developmental Neuroscience

Year:

2011

Language:

english

File:

PDF, 830 KB

english, 2011

2

Recomendaciones de buenas prácticas para el diagnóstico genético de abortos espontáneos e interrupciones voluntarias del embarazo por presentar defectos congénitos

Martinez-Garcia, M., Gavin, E., Plaza, J., Perez-Aytes, A., Marin-Reina, P., Lorda-Sanchez, I., Ramos, C., Trujillo-Tiebas, M.J.

Journal:

Clínica e Investigación en Ginecología y Obstetricia

Year:

2015

File:

PDF, 370 KB

2015

3

Immunosuppressive Drugs and Pregnancy: Mycophenolate Mofetil Embryopathy

Perez-Aytes, A., Ledo, A., Boso, V., Carey, J. C., Castell, M., Vento, M.

Journal:

Year:

2010

Language:

english

File:

PDF, 1.31 MB

english, 2010

4

Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome

Perez-Aytes, Antonio, Marin-Reina, Purificacion, Boso, Virginia, Ledo, Ana, Carey, John C., Vento, Maximo

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.09 MB

english, 2016

5

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

Carcavilla, Atilano, García-Miñaúr, Sixto, Pérez-Aytés, Antonio, Vendrell, Teresa, Pinto, Isabel, Guillén-Navarro, Encarna, González-Meneses, Antonio, Aoki, Yoko, Grinberg, Daniel, Ezquieta, Begoña

Journal:

Medicina Clínica (English Edition)

Year:

2015

File:

PDF, 728 KB

2015

6

Urethral obstruction sequence and lower limb deficiency: Evidence for the vascular disruption hypothesis

Antonio Perez-Aytes, John M. Graham, Joseph H. Hersh, H. Eugene Hoyme, Kirk Aleck, John C. Carey

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 2.87 MB

english, 1993

7

Non-immunological hydrops fetalis and intrapericardial teratoma: Case report and review

Dr Antonio Perez-Aytes, Nuria Sanchis, Agnes Barbal, Maria Jose Artés, Julio Domene, Melitina Chirivella, Andres Baamonde

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 667 KB

english, 1995

8

Urethral obstruction sequence and lower limb deficiency: Evidence for the vascular disruption hypothesis

Antonio Perez-Aytes, John M. Graham, Joseph H. Hersh, H. Eugene Hoyme, Kirk Aleck, John C. Carey

Journal:

Pediatric Nephrology

Year:

1994

Language:

english

File:

PDF, 117 KB

english, 1994

9

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perez-Aytes, Hector Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca Sangiorgi, Fabio Pecora, Kerstin Reicherter, Gen Nish

Journal:

The American Journal of Human Genetics

Year:

2008

File:

PDF, 26 KB

2008

10

P14.02: First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy after assisted reproduction techniques

J. Bellver, C. Lara, A. Pérez-Aytés, J. Remohí, A. Pellicer, V. Serra

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2004

Language:

english

File:

PDF, 41 KB

english, 2004

11

Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía

Begoña Ezquieta, José L. Santomé, Atilano Carcavilla, Encarna Guillén-Navarro, Antonio Pérez-Aytés, Jaime Sánchez del Pozo, Sixto García-Miñaur, Emilia Castillo, Milagros Alonso, Teresa Vendrell, Alfr

Journal:

Revista Española de Cardiología

Year:

2012

File:

PDF, 290 KB

2012

12

Single aberrant umbilical artery in a fetus with severe caudal defects: Sirenomelia or caudal dysgenesis

Perez-Aytes, Antonio, Montero, Luisa, Gomez, Jacinto, Paya, Artemio

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 462 KB

english, 1997

13

Coloboma palpebral bilateral: una malformación ocular poco frecuente

A. Sánchez Andrés, M. Gómez Tébar, R. Fons Martínez, A. Pérez-Aytes, I. Serra Estellés

Journal:

Anales de Pediatría

Year:

2006

File:

PDF, 165 KB

2006

14

Preaxial hallucal polydactyly as a marker for diabetic embryopathy

Margaret P. Adam, Louanne Hudgins, John C. Carey, Bryan D. Hall, Karlene Coleman, Karen W. Gripp, Antonio Perez-Aytes, John M. Graham Jr.

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2009

Language:

english

File:

PDF, 237 KB

english, 2009

15

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

Caparros-Martin, J. A., Valencia, M., Reytor, E., Pacheco, M., Fernandez, M., Perez-Aytes, A., Gean, E., Lapunzina, P., Peters, H., Goodship, J. A., Ruiz-Perez, V. L.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 962 KB

english, 2013

16

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2

Francisco Martínez, Isabel Martínez-Garay, José María Millán, Antonio Pérez-Aytes, María Dolores Moltó, Carmen Orellana, Félix Prieto

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 161 KB

english, 2001

17

In utero exposure to mycophenolate mofetil: A characteristic phenotype?

Antonio Perez-Aytes, Ana Ledo, Virginia Boso, Pilar Sáenz, Eva Roma, José Luis Poveda, Maximo Vento

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 162 KB

english, 2008

18

Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes

Carcavilla, Atilano, García-Miñaúr, Sixto, Pérez-Aytés, Antonio, Vendrell, Teresa, Pinto, Isabel, Guillén-Navarro, Encarna, González-Meneses, Antonio, Aoki, Yoko, Grinberg, Daniel, Ezquieta, Begoña

Journal:

Medicina Clínica

Year:

2015

File:

PDF, 688 KB

2015

19

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Vergult, Sarah, Hoogeboom, A. Jeannette M., Bijlsma, Emilia K., Sante, Tom, Klopocki, Eva, De Wilde, Bram, Jongmans, Marjolijn, Thiel, Christian, Verheij, Joke BGM, Perez-Aytes, Antonio, Van Esch, Hil

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 1.09 MB

english, 2013

20

Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy

Begoña Ezquieta, José L. Santomé, Atilano Carcavilla, Encarna Guillén-Navarro, Antonio Pérez-Aytés, Jaime Sánchez del Pozo, Sixto García-Miñaur, Emilia Castillo, Milagros Alonso, Teresa Vendrell, Alfr

Journal:

Revista Española de Cardiología (English Edition)

Year:

2012

Language:

english

File:

PDF, 279 KB

english, 2012

21

First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy

J. Bellver, C. Lara, A. Pérez-Aytés, A. Pellicer, J. Remohí, V. Serra

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

22

The Genetics of Aminoglycoside-Related Deafness

Cernada, M., Perez-Aytes, A., Vento, M., Millan, J. M.

Journal:

Year:

2014

Language:

english

File:

PDF, 1023 KB

english, 2014

23

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

Martinez, Francisco, Marín-Reina, Purificación, Sanchis-Calvo, Amparo, Perez-Aytés, Antonio, Oltra, Silvestre, Roselló, Mónica, Mayo, Sonia, Monfort, Sandra, Pantoja, Jorge, Orellana, Carmen

Journal:

Pediatric Research

Year:

2015

Language:

english

File:

PDF, 1.64 MB

english, 2015

24

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature

Vasudevan, Pradeep C., Garcia-Minaur, Sixto, Botella, Maria Pilar, Perez-Aytes, Antonio, Shannon, Nora L., Quarrell, Oliver W. J.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 323 KB

english, 2005

25

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perez-Aytes, Hector Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca Sangiorgi, Fabio Pecora, Kerstin Reicherter, Gen Nish

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 708 KB

english, 2008

26

Postnatal development of fetuses with a single umbilical artery: differences between malformed and non-malformed infants

Arcos-Machancoses, Jose Vicente, Marín-Reina, Purificación, Romaguera-Salort, Eugenia, García-Camuñas, Yolanda, Pérez-Aytés, Antonio, Vento, Máximo

Journal:

World Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 766 KB

english, 2015

27

Silver-Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm

Arcos-Machancoses, José Vicente, Reina, Purificacion Marin, Martinez, Francisco, Busselo, Maria Jimenez, Perez-Aytes, Antonio

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 180 KB

english, 2015

28

Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. ()

Pérez-Aytés, Antonio, Arcos-Machancoses, José V., Marin Reina, Purificacion, Jimenez Busselo, M. Teresa, Martínez, Francisco

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 131 KB

english, 2017

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