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1

DIAGNÓSTICO MOLECULAR DE ENFERMEDADES GENÉTICAS: DEL DIAGNÓSTICO GENÉTICO AL DIAGNÓSTICO GENÓMICO CON LA SECUENCIACIÓN MASIVA

Md., Sonia Santillán-Garzón, Diego-Álvarez, Dan, Buades, Celia, Romera-López, Alejandro, Pérez-Cabornero, Lucía, Valero-Hervás, Diana, Cantalapiedra, Diego, Bioinformatics,, Felipe-Ponce, Vanesa, Her

Journal:

Revista Médica Clínica Las Condes

Year:

2015

File:

PDF, 228 KB

2015

2

New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

M. García-Hoyos, R. Sanz, D. Diego-Álvarez, I. Lorda-Sánchez, M.J. Trujillo-Tiebas, D. Cantalapiedra, C. Ramos, C. Ayuso

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 132 KB

english, 2005

3

Clinical presentation of a variant of Axenfeld–Rieger syndrome associated with subtelomeric 6p deletion

Victor Martinez-Glez, Isabel Lorda-Sanchez, Jose Manuel Ramirez, Pedro Ruiz-Barnes, Marta Rodriguez de Alba, Dan Diego-Alvarez, Carmen Ramos, Charles C. Searby, Darryl Y. Nishimura, Carmen Ayuso

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 399 KB

english, 2007

4

Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages

Diego-Alvarez, D.

Journal:

Human Reproduction

Year:

2005

Language:

english

File:

PDF, 259 KB

english, 2005

5

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Da

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 1.56 MB

2020

6

Detection of a Paternally Inherited Fetal Mutation in Maternal Plasma by the Use of Automated Sequencing

ANA BUSTAMANTE-ARAGONES, MARIA GARCIA-HOYOS, MARTA RODRIGUEZ DE ALBA, CRISTINA GONZALEZ-GONZALEZ, ISABEL LORDA-SANCHEZ, DAN DIEGO-ALVAREZ, M. JOSE TRUJILLO-TIEBAS, CARMEN AYUSO, CARMEN RAMOS

Journal:

Annals of the New York Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 227 KB

english, 2006

7

MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages

Dan Diego-Alvarez, Marta Rodriguez de Alba, Rocio Cardero-Merlo, Joaquin Diaz-Recasens, Carmen Ayuso, Carmen Ramos, Isabel Lorda-Sanchez

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 159 KB

english, 2007

8

New Type of Mutations in Three Spanish Families with Choroideremia

Garcia-Hoyos, Maria, Lorda-Sanchez, Isabel, Go´mez-Garre, Pilar, Villaverde, Cristina, Cantalapiedra, Diego, Bustamante, Ana, Diego-Alvarez, Dan, Vallespin, Elena, Gallego-Merlo, Jesus, Trujillo, Mari

Journal:

Investigative Ophthalmology & Visual Science

Year:

2008

Language:

english

File:

PDF, 363 KB

english, 2008

9

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach

Diego-Alvarez, D.

Journal:

Human Reproduction

Year:

2005

Language:

english

File:

PDF, 394 KB

english, 2005

10

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

A. BUSTAMANTE-ARAGONES, M. RODRIGUEZ DE ALBA, C. GONZALEZ-GONZALEZ, M. J. TRUJILLO-TIEBAS, D. DIEGO-ALVAREZ, E. VALLESPIN, J. PLAZA, C. AYUSO, C. RAMOS

Journal:

Year:

2008

Language:

english

File:

PDF, 147 KB

english, 2008

11

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma

Ana Bustamante-Aragones, Jesus Gallego-Merlo, Maria Jose Trujillo-Tiebas, Marta Rodriguez de Alba, Cristina Gonzalez-Gonzalez, Guillermo Glover, Dan Diego-Alvarez, Carmen Ayuso, Carmen Ramos

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 343 KB

english, 2008

12

A small and active ring x chromosome in a female with features of Kabuki syndrome

L. Rodríguez, D. Diego-Alvarez, I. Lorda-Sanchez, F.L. Gallardo, M.L. Martínez-Fernández, M.E. Arroyo-Muñoz, M.L. Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 374 KB

english, 2008

13

Evaluating DNA methylation and gene expression variability in the human term placenta

L. Avila, R.K. Yuen, D. Diego-Alvarez, M.S. Peñaherrera, R. Jiang, W.P. Robinson

Journal:

Year:

2010

Language:

english

File:

PDF, 922 KB

english, 2010

14

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH

Dr Isabel Lorda-Sánchez, Dan Diego-Alvarez, Carmen Ayuso, Marta Rodríguez de Alba, Maria Jose Trujillo, Carmen Ramos

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 245 KB

english, 2005

15

Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss

Rajcan-Separovic, E., Diego-Alvarez, D., Robinson, W. P., Tyson, C., Qiao, Y., Harvard, C., Fawcett, C., Kalousek, D., Philipp, T., Somerville, M. J., Stephenson, M. D.

Journal:

Human Reproduction

Year:

2010

Language:

english

File:

PDF, 399 KB

english, 2010

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