COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum
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Published in American journal of medical genetics. Part A (01.08.2022)
Published in American journal of medical genetics. Part A (01.08.2022)
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Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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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, Dan, Zawada, Michal, Kandaswamy, Krishna K, Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa, Al Mutairi, Fuad, Alfares, Ahmed, Albalwi, Mohammed A, Alfadhel, Majid, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt, Bauer, Peter
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages
Diego-Alvarez, Dan, de Alba, Marta Rodriguez, Cardero-Merlo, Rocio, Diaz-Recasens, Joaquin, Ayuso, Carmen, Ramos, Carmen, Lorda-Sanchez, Isabel
Published in Prenatal diagnosis (01.08.2007)
Published in Prenatal diagnosis (01.08.2007)
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Detection of a Paternally Inherited Fetal Mutation in Maternal Plasma by the Use of Automated Sequencing
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Published in Annals of the New York Academy of Sciences (01.09.2006)
Published in Annals of the New York Academy of Sciences (01.09.2006)
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Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH
Lorda-Sánchez, Isabel, Diego-Alvarez, Dan, Ayuso, Carmen, de Alba, Marta Rodríguez, Trujillo, Maria Jose, Ramos, Carmen
Published in Prenatal diagnosis (01.10.2005)
Published in Prenatal diagnosis (01.10.2005)
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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency
Riedhammer, Korbinian M, Burgemeister, Anna L, Cantagrel, Vincent, Amiel, Jeanne, Siquier-Pernet, Karine, Boddaert, Nathalie, Hertecant, Jozef, Kannouche, Patricia L, Pouvelle, Caroline, Htun, Stephanie, Slavotinek, Anne M, Beetz, Christian, Diego-Alvarez, Dan, Kampe, Kapil, Fleischer, Nicole, Awamleh, Zain, Weksberg, Rosanna, Kopajtich, Robert, Meitinger, Thomas, Suleiman, Jehan, El-Hattab, Ayman W
Published in Human molecular genetics (10.09.2022)
Published in Human molecular genetics (10.09.2022)
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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency
Riedhammer, Korbinian M, Burgemeister, Anna L, Amiel, Jeanne, Cantagrel, Vincent, Siquier-Pernet, Karine, Boddaert, Nathalie, Hertecant, Jozef, Kannouche, Patricia L, Pouvelle, Caroline, Htun, Stephanie, Slavotinek, Anne M, Diego-Alvarez, Dan, Beetz, Christian, Kampe, Kapil, Fleischer, Nicole, Awamleh, Zain, Weksberg, Rosanna, Meitinger, Thomas, Kopajtich, Robert, Suleiman, Jehan, El-Hattab, Ayman W
Published in Human molecular genetics (05.05.2022)
Published in Human molecular genetics (05.05.2022)
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New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma
Bustamante-Aragones, Ana, Gallego-Merlo, Jesus, Trujillo-Tiebas, Maria Jose, de Alba, Marta Rodriguez, Gonzalez-Gonzalez, Cristina, Glover, Guillermo, Diego-Alvarez, Dan, Ayuso, Carmen, Ramos, Carmen
Published in Journal of cystic fibrosis (01.11.2008)
Published in Journal of cystic fibrosis (01.11.2008)
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Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach
Diego-Alvarez, Dan, Ramos-Corrales, Carmen, Garcia-Hoyos, Maria, Bustamante-Aragones, Ana, Cantalapiedra, Diego, Diaz-Recasens, Joaquin, Vallespin-Garcia, Elena, Ayuso, Carmen, Lorda-Sanchez, Isabel
Published in Human reproduction (Oxford) (01.04.2006)
Published in Human reproduction (Oxford) (01.04.2006)
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New Type of Mutations in Three Spanish Families with Choroideremia
Garcia-Hoyos, Maria, Lorda-Sanchez, Isabel, Gomez-Garre, Pilar, Villaverde, Cristina, Cantalapiedra, Diego, Bustamante, Ana, Diego-Alvarez, Dan, Vallespin, Elena, Gallego-Merlo, Jesus, Trujillo, Maria Jose, Ramos, Carmen, Ayuso, Carmen
Published in Investigative ophthalmology & visual science (01.04.2008)
Published in Investigative ophthalmology & visual science (01.04.2008)
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Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages
Diego-Alvarez, Dan, Garcia-Hoyos, Maria, Trujillo, Maria Jose, Gonzalez-Gonzalez, Cristina, Rodriguez de Alba, Marta, Ayuso, Carmen, Ramos-Corrales, Carmen, Lorda-Sanchez, Isabel
Published in Human reproduction (Oxford) (01.05.2005)
Published in Human reproduction (Oxford) (01.05.2005)
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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis
Bustamante-Aragones, Ana, Vallespin, Elena, Rodriguez de Alba, Marta, Trujillo-Tiebas, Maria Jose, Gonzalez-Gonzalez, Cristina, Diego-Alvarez, Dan, Riveiro-Alvarez, Rosa, Lorda-Sanchez, Isabel, Ayuso, Carmen, Ramos, Carmen
Published in Molecular vision (04.08.2008)
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Published in Molecular vision (04.08.2008)
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Md, Sonia Santillán-Garzón, Diego-Álvarez, Dan, Buades, Celia, Romera-López, Alejandro, Pérez-Cabornero, Lucía, Valero-Hervás, Diana, Cantalapiedra, Diego, Bioinformatics, Felipe-Ponce, Vanesa, Hernández-Poveda, Gracia, José Roca, María, Casañs, Clara, Fernández-Pedrosa, Victoria, M., Carmen Collado, C., Ángela Arilla, P., Juan Carlos Triviño, C., Óscar RodrÍguez, Marco, Guillermo, Gil, Mayte, Miñambres, Rebeca, Ballester, Alida
Published in Revista Médica Clínica Las Condes (01.07.2015)
Published in Revista Médica Clínica Las Condes (01.07.2015)
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Clinical presentation of a variant of Axenfeld–Rieger syndrome associated with subtelomeric 6p deletion
Martinez-Glez, Victor, Lorda-Sanchez, Isabel, Ramirez, Jose Manuel, Ruiz-Barnes, Pedro, Rodriguez de Alba, Marta, Diego-Alvarez, Dan, Ramos, Carmen, Searby, Charles C, Nishimura, Darryl Y, Ayuso, Carmen
Published in European journal of medical genetics (01.03.2007)
Published in European journal of medical genetics (01.03.2007)
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Diagnóstico prenatal de trisomía 9 en mosaico en el segundo trimestre de la gestación
Javier Plaza, Francisco, Uriel, Montserrat, Cañamares, Marina, Calleja, Jacky, Diego Álvarez, Dan, Rodríguez de Alba, Marta, Ramos, Carmen
Published in Progresos de obstetricia y ginecología (01.10.2008)
Published in Progresos de obstetricia y ginecología (01.10.2008)
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