Alberto, Plaja: search on Z-Library

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1

Further delineation of the SOX18 -related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)

Valenzuela, Irene, Fernández-Alvarez, Paula, Plaja, Alberto, Ariceta, Gema, Sabaté-Rotés, Anna, García-Arumí, Elena, Vendrell, Teresa, Tizzano, Eduardo

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1019 KB

english, 2018

2

Rapid prenatal diagnosis of aneuploidies and zygosity in multiple pregnancies by amniocentesis with single insertion of the needle and quantitative fluorescent PCR

Vincenzo Cirigliano, Paz Cañadas, Alberto Plaja, Elena Ordoñez, Carmen Mediano, Angeles Sánchez, Inma Farrán

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 141 KB

english, 2003

3

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

Lluís Armengol, Julián Nevado, Clara Serra-Juhé, Alberto Plaja, Carmen Mediano, Fe Amalia García-Santiago, Manel García-Aragonés, Olaya Villa, Elena Mansilla, Cristina Preciado, Luis Fernández, María

Journal:

Year:

2012

Language:

english

File:

PDF, 245 KB

english, 2012

4

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Reid, Sarah, Plaja, Alberto, Firth, Helen, FitzPatrick, David, Kidd, Alexa, Méhes, Károly, Nash, Richard, Robin, Nathanial, Hanks, Sandra, Coleman, Kim

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 186 KB

english, 2004

5

Rapid Prenatal Diagnosis by QF-PCR: Evaluation of 30,000 Consecutive Clinical Samples and Future Applications

VINCENZO CIRIGLIANO, GIANFRANCO VOGLINO, ANTONELLA MARONGIU, PAZ CAÑADAS, ELENA ORDOÑEZ, ELISABET LLOVERAS, ALBERTO PLAJA, CARME FUSTER, MATTEO ADINOLFI

Journal:

Annals of the New York Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 197 KB

english, 2006

6

Chromosome aneuploidy and cancer: lessons from a chromosomal instability syndrome

Alberto Plaja, Cristina Perez, Rosa Miró

Journal:

Cancer Genetics and Cytogenetics

Year:

2001

Language:

english

File:

PDF, 30 KB

english, 2001

7

Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome

Sandra Hanks, Kim Coleman, Brenda Summersgill, Boo Messahel, Dan Williamson, Kathryn Pritchard-Jones, Jon Strefford, John Swansbury, Alberto Plaja, Janet Shipley, Nazneen Rahman

Journal:

Year:

2006

Language:

english

File:

PDF, 86 KB

english, 2006

8

Ectopic nucleolus organizer regions in a patient with premature ovarian failure

Elisabet Lloveras, Lurdes Zamora, Cristina Pérez, Carme Fuster, Sandra Andreu, Alberto Plaja

Journal:

Fertility and Sterility

Year:

2006

Language:

english

File:

PDF, 73 KB

english, 2006

9

Comparative Genomic Hybridization Analysis Reveals New Different Subgroups in Early-stage Bladder Tumors

Esther Prat, Javier del Rey, Immaculada Ponsa, Marga Nadal, Jordi Camps, Alberto Plaja, Mercedes Campillo, Ferran Algaba, Antoni Gelabert, Rosa Miró

Journal:

Year:

2010

Language:

english

File:

PDF, 516 KB

english, 2010

10

Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24

Cristina Hernando, Alberto Plaja, Vicens Català, Enric Sarret, Josep Egozcue, Carme Fuster

Journal:

Fertility and Sterility

Year:

2004

Language:

english

File:

PDF, 308 KB

english, 2004

11

Editorial

Carmina Comas, Alberto Plaja

Journal:

Diagnóstico Prenatal

Year:

2012

Language:

spanish

File:

PDF, 201 KB

spanish, 2012

12

Editorial

Alberto Plaja, Carmina Comas

Journal:

Diagnóstico Prenatal

Year:

2011

File:

PDF, 190 KB

2011

13

Editorial

Carmina Comas, Alberto Plaja

Journal:

Diagnóstico Prenatal

Year:

2011

File:

PDF, 185 KB

2011

14

Editorial

Carmina Comas, Alberto Plaja

Journal:

Diagnóstico Prenatal

Year:

2012

Language:

spanish

File:

PDF, 201 KB

spanish, 2012

15

De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features

Neira, Vivian Alejandra, Romero-Espinoza, Pavel, Rojas-Martínez, Augusto, Ortiz-López, Rocío, Córdova-Fletes, Carlos, Plaja, Alberto, Barros-Núñez, Patricio

Journal:

Year:

2013

Language:

english

File:

PDF, 949 KB

english, 2013

16

Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

Plaja, Alberto, Lloveras, Elisabet, Martinez-Bouzas, Cristina, Barreña, Beatriz, Campo, Miguel Del, Fernández, Asunción, Herrero, Marta, Barranco, Laura, Palau, Nuria, López-Aríztegui, M. Asunción, Ca

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.40 MB

english, 2013

17

Nuevo proyecto editorial: número monográfico de “Cirugía fetal”

Comas, Carmina, Plaja, Alberto, Gratacós, Eduard

Journal:

Diagnóstico Prenatal

Year:

2012

File:

PDF, 217 KB

2012

18

Obituary.

Plaja, Alberto, Comas, Carmina

Journal:

Year:

1902

Language:

english

File:

PDF, 197 KB

english, 1902

19

Editorial

Plaja, Alberto, Comas, Carmina

Journal:

Diagnóstico Prenatal

Year:

2013

File:

PDF, 227 KB

2013

20

Assessment of QF-PCR as the First Approach in Prenatal Diagnosis

Badenas, Celia, Rodríguez-Revenga, Laia, Morales, Carme, Mediano, Carmen, Plaja, Alberto, Pérez-Iribarne, Ma Mar, Soler, Anna, Clusellas, Núria, Borrell, Antoni, Sánchez, Ma Ángeles, Miró, Elisabeth,

Journal:

The Journal of Molecular Diagnostics

Year:

2010

Language:

english

File:

PDF, 243 KB

english, 2010

21

Fluoride, bromide and iodide in the Arabian Sea

Badenas, Celia, Rodríguez-Revenga, Laia, Morales, Carme, Mediano, Carmen, Plaja, Alberto, Pérez-Iribarne, Ma Mar, Soler, Anna, Clusellas, Núria, Borrell, Antoni, Sánchez, Ma Ángeles, Miró, Elisabeth,

Journal:

Deep Sea Research Part B. Oceanographic Literature Review

Year:

1982

Language:

english

File:

PDF, 174 KB

english, 1982

22

Nuevo proyecto editorial: número monográfico de Cirugía fetal (volumen ii)

Comas, Carmina, Plaja, Alberto, Gratacós, Eduard

Journal:

Diagnóstico Prenatal

Year:

2012

File:

PDF, 229 KB

2012

23

Editorial

Comas, Carmina, Plaja, Alberto

Journal:

Diagnóstico Prenatal

Year:

2013

File:

PDF, 219 KB

2013

24

Monográfico Citogenética. Coordinador: Alberto Plaja

Plaja, Alberto, Comas, Mina

Journal:

Diagnóstico Prenatal

Year:

2013

File:

PDF, 228 KB

2013

25

Reestructuraciones compatibles con un fenotipo normal detectadas en diagnóstico prenatal

Lloveras, Elisabet, Plaja, Alberto

Journal:

Diagnóstico Prenatal

Year:

2013

File:

PDF, 2.20 MB

2013

26

Editorial

Comas, Carmina, Plaja, Alberto

Journal:

Diagnóstico Prenatal

Year:

2014

File:

PDF, 269 KB

2014

27

Editorial

Comas, Carmina, Plaja, Alberto

Journal:

Diagnóstico Prenatal

Year:

2014

File:

PDF, 270 KB

2014

28

Recomendaciones para la aplicación clínica de la detección de aneuploidías en ADN fetal libre en sangre materna

Borrell, Antoni, Armengol, Lluís, Casals, Elena, Cirigliano, Vincenzo, del Campo, Miguel, de la Chica, Rosana, Figueres, Francesc, Plaja, Alberto

Journal:

Progresos de Obstetricia y Ginecología

Year:

2015

Language:

spanish

File:

PDF, 280 KB

spanish, 2015

29

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, del Campo, Miguel, Plaja, Alberto,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.22 MB

english, 2015

30

Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstitial Deletion and Duplication in Two Siblings: Further Delineation of the Emerging Proximal 3p Deletion Syndrome

Lloveras, Elisabet, Vendrell, Teresa, Fern�ndez, Asunci�n, Castells, Neus, Cueto, Ana, del Campo, Miguel, Hernando, Cristina, Villa, Olaya, Plaja, Alberto

Journal:

Cytogenetic and Genome Research

Year:

2015

Language:

english

File:

PDF, 116 KB

english, 2015

31

Recomendaciones para el uso clínico del microarray genómico en diagnóstico prenatal

del Campo, Miguel, Plaja, Alberto, Casals, Elena, Figueras, Francesc, de la Chica, Rosana, Armengol, Lluís, Cirigliano, Vincenzo, Borrell, Antoni

Journal:

Progresos de Obstetricia y Ginecología

Year:

2015

Language:

spanish

File:

PDF, 288 KB

spanish, 2015

32

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region

Plaja, Alberto, Castells, Neus, Cueto-Gonz�lez, Anna M., del Campo, Miguel, Vendrell, Teresa, Lloveras, Elisabet, Izquierdo, Luis, Borregan, Mar, Rodr�guez-Santiago, Benjam�n, Carri�, Anna, Mir�, Rosa

Journal:

Cytogenetic and Genome Research

Year:

2015

Language:

english

File:

PDF, 609 KB

english, 2015

33

Fe de errores a «Recomendaciones para la aplicación clínica de la detección de aneuploidías en ADN fetal libre en sangre materna»

Borrell, Antoni, Armengol, Lluís, Casals, Elena, Cirigliano, Vincenzo, del Campo, Miguel, de la Chica, Rosana, Figueres, Francesc, Plaja, Alberto

Journal:

Progresos de Obstetricia y Ginecología

Year:

2015

File:

PDF, 226 KB

2015

34

Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region

Barranco, Laura, Costa, Marta, Lloveras, Elisabet, Ordóñez, Elena, Maiz, Nerea, Hernando, Cristina, Villa, Olaya, Cirigliano, Vincenzo, Plaja, Alberto

Journal:

Cytogenetic and Genome Research

Year:

2016

Language:

english

File:

PDF, 258 KB

english, 2016

35

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

36

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6

Clara, Franco-Jarava, Hongying, Wang, Andrea, Martin-Nalda, de la Sierra Daniel, Alvarez, Marina, García-Prat, Domingo, Bodet, Vicenç, García-Patos, Alberto, Plaja, Francesc, Rudilla, Victor, Rodrigue

Journal:

Clinical Immunology

Year:

2018

Language:

english

File:

PDF, 1.21 MB

english, 2018

37

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

Soler-Palacín, Pere, Garcia-Prat, Marina, Martín-Nalda, Andrea, Franco-Jarava, Clara, Rivière, Jacques G., Plaja, Alberto, Bezdan, Daniela, Bosio, Mattia, Martínez-Gallo, Mónica, Ossowski, Stephan, Co

Journal:

Frontiers in Immunology

Year:

2018

Language:

english

File:

PDF, 1.20 MB

english, 2018

38

Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure

del Rey, Javier, Vidal, Francisco, Ramírez, Lorena, Borràs, Nina, Corrales, Irene, Garcia, Iris, Martinez-Pasarell, Olga, Fernandez, Silvia F., Garcia-Cruz, Raquel, Pujol, Aïda, Plaja, Alberto, Salave

Journal:

Year:

2018

Language:

english

File:

PDF, 2.31 MB

english, 2018

39

Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8âyear long observational study from a tertiary care university hospital

Santirocco, Maddalena, Plaja, Alberto, RodÃ³, Carlota, Valenzuela, Irene, ArÃ©valo, Silvia, Castells, Neus, Abuli, Anna, Tizzano, Eduardo, Maiz, Nerea, Carreras, Elena

Journal:

Prenatal Diagnosis

Year:

2020

File:

PDF, 1.48 MB

2020

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