Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization
García-Santiago, Fe Amalia, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Mansilla, Elena, Meneses, Antonio González, Rosell, Jordi, Granero, Ángeles Pérez, Vallespín, Elena, Fernández, Luis, Sierra, Blanca, Oliver-Bonet, María, Palomares, María, de Torres, María Luisa, Mori, María Ángeles, Nevado, Julián, Heath, Karen E., Delicado, Alicia, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (01.05.2015)
Published in American journal of medical genetics. Part A (01.05.2015)
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Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS
Zhang, Feng, Potocki, Lorraine, Sampson, Jacinda B., Liu, Pengfei, Sanchez-Valle, Amarilis, Robbins-Furman, Patricia, Navarro, Alicia Delicado, Wheeler, Patricia G., Spence, J. Edward, Brasington, Campbell K., Withers, Marjorie A., Lupski, James R.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
Fernández, Luis, Nevado, Julián, Santos, Fernando, Heine-Suñer, Damià, Martinez-Glez, Victor, García-Miñaur, Sixto, Palomo, Rebeca, Delicado, Alicia, Pajares, Isidora López, Palomares, María, García-Guereta, Luis, Valverde, Eva, Hawkins, Federico, Lapunzina, Pablo
Published in BMC medical genetics (02.06.2009)
Published in BMC medical genetics (02.06.2009)
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Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review
Lapunzina, Pablo, Gairí, Alba, Delicado, Alicia, Mori, M. Angeles, Torres, M. Luisa de, Goma, Anton, Navia, Marcelo, Pajares, Isidora López
Published in American journal of medical genetics. Part A (15.09.2004)
Published in American journal of medical genetics. Part A (15.09.2004)
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A Neuroregenerative Human Ensheathing Glia Cell Line with Conditional Rapid Growth
García-Escudero, Vega, Gargini, Ricardo, Gallego-Hernández, María Teresa, García-Gómez, Ana, Martín-Bermejo, María Jesús, Simón, Diana, Delicado, Alicia, Moreno-Flores, María Teresa, Ávila, Jesús, Lim, Filip
Published in Cell transplantation (01.01.2011)
Published in Cell transplantation (01.01.2011)
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Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype
Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples
Vallespín, Elena, Palomares Bralo, María, Mori, M. Ángeles, Martín, Rubén, García-Miñaúr, Sixto, Fernández, Luis, de Torres, M. Luisa, García-Santiago, Fe, Mansilla, Elena, Santos, Fernando, M-Montaño, Victoria E., Crespo, M. Carmen, Martín, Sol, Martínez-Glez, Victor, Delicado, Alicia, Lapunzina, Pablo, Nevado, Julián
Published in American journal of medical genetics. Part A (01.08.2013)
Published in American journal of medical genetics. Part A (01.08.2013)
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Journal Article
Prevention of Senescence Progression in Reversibly Immortalized Human Ensheathing Glia Permits Their Survival After Deimmortalization
García-Escudero, Vega, García-Gómez, Ana, Gargini, Ricardo, Martín-Bermejo, María J, Langa, Elena, de Yébenes, Justo G, Delicado, Alicia, Ávila, Jesús, Moreno-Flores, María T, Lim, Filip
Published in Molecular therapy (01.02.2010)
Published in Molecular therapy (01.02.2010)
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Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier
Delicado, Alicia, Fernández, Luis, de Torres, María Luisa, Nevado, Julián, García-Santiago, Fe Amalia, Rodríguez, Roberto, Mansilla, Elena, Palomares, María, Santos-Simarro, Fernando, Vallespín, Elena, Mori, María Ángeles, Lapunzina, Pablo
Published in BMC genetics (29.10.2014)
Published in BMC genetics (29.10.2014)
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Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome
BARTSCH, Oliver, RASI, Sasan, DELICADO, Alicia, DYACK, Sarah, NEUMANN, Luitgard M, SEEMANOVA, Eva, VOLLETH, Marianne, HAAF, Thomas, KALSCHEUER, Vera M
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
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Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes
Fernández, Luis, Nevado, Julián, De Torres, María L., Mansilla, Elena, Vallespín, Elena, García-Miñaúr, Sixto, Palomo, Rebeca, Deirós, Lucía, Cabrera, Marta, Galo, Elia Dina, Lapunzina, Pablo, Delicado, Alicia
Published in American journal of medical genetics. Part A (01.11.2012)
Published in American journal of medical genetics. Part A (01.11.2012)
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Journal Article
Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation
Rodríguez, Laura, Nevado, Julián, Vallespin, Elena, Palomares, María, Golmayo, Luz, Bonaglia, María Clara, Delicado, Alicia, Abarca, Elena
Published in American journal of medical genetics. Part A (01.04.2011)
Published in American journal of medical genetics. Part A (01.04.2011)
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Journal Article
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
Bækvad-Hansen, Marie, Tümer, Zeynep, Delicado, Alicia, Erdogan, Fikret, Tommerup, Niels, Larsen, Lars A.
Published in American journal of medical genetics. Part A (01.03.2006)
Published in American journal of medical genetics. Part A (01.03.2006)
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Journal Article
Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion
Fernández, Luis, Lapunzina, Pablo, López Pajares, Isidora, Palomares, María, Martínez, Isabel, Fernández, Blanca, Quero, José, García-Guereta, Luis, García-Alix, Alfredo, Burgueros, Margarita, Galán-Gómez, Enrique, Carbonell-Pérez, José María, Pérez-Granero, Ángeles, Torres-Juan, Laura, Heine-Suñer, Damià, Rosell, Jordi, Delicado, Alicia
Published in American journal of medical genetics. Part A (01.05.2008)
Published in American journal of medical genetics. Part A (01.05.2008)
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Journal Article
Unusual four-generation chromosome-22 rearrangement: When "normality" masks abnormality
Nevado, Julián, de Torres, M. Luisa, Fernández, Luis, Mori, M. Ángeles, Villa, Amelia, Palomares, María, García-Santiago, Fe, Mansilla, Elena, García-Miñaur, Sixto, Delicado, Alicia, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
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Journal Article
Direct tandem duplication in chromosome 19q characterized by array CGH
Palomares Bralo, Maria, Delicado, Alicia, Lapunzina, Pablo, Velázquez Fragua, Ramón, Villa, Olaya, Ángeles Mori, Maria, Luisa de Torres, Maria, Fernández, Luis, Pérez Jurado, Luis A, López Pajares, Isidora
Published in European journal of medical genetics (01.05.2008)
Published in European journal of medical genetics (01.05.2008)
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Journal Article
Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome
Fernández, Luis, Lapunzina, Pablo, Pajares, Isidora López, Criado, Germán Rodríguez, García‐Guereta, Luis, Pérez, Jesús, Quero, José, Delicado, Alicia
Published in American journal of medical genetics. Part A (01.07.2005)
Published in American journal of medical genetics. Part A (01.07.2005)
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Journal Article
A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings
Mori, María A., Lapunzina, Pablo, Delicado, Alicia, Núñez, Guillermo, Rodríguez, José I., de Torres, María L., Herrero, Francisco, Valverde, Eva, López‐Pajares, Isidora
Published in American journal of medical genetics. Part A (15.05.2004)
Published in American journal of medical genetics. Part A (15.05.2004)
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Journal Article
The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population
Gutierrez, Silvia, Magano, Luis, Delicado, Alicia, Mori, María A., de Torres, María L., Fernández, Luis, Palomares, María, Fernández, Eva, Tarduchy, Gemma R., Molano, Jesús, Gracia, Ricardo, Pajares, Isidora López, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (15.12.2006)
Published in American journal of medical genetics. Part A (15.12.2006)
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Journal Article
Unrelated Chromosomal Anomalies Found in Patients With Suspected 22qll.2 Deletion
FEMANDEZ, Luis, LAPUNZINA, Pablo, GALAN-GOMEZ, Enrique, CARBONELL-PEREZ, José Maria, PEREZ-GRANERO, Angeles, TORRES-JUAN, Laura, HEINE-SUNER, Damia, ROSELL, Jordi, DELICADO, Alicia, LOPEZ PAJARES, Isidora, PALOMARES, Maria, MARTINEZ, Isabel, FEMANDEZ, Blanca, QUERO, José, GARCIA-GUERETA, Luis, GARCIA-ALIX, Alfredo, BURGUEROS, Margarita
Published in American journal of medical genetics. Part A (2008)
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Published in American journal of medical genetics. Part A (2008)
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