Works matching AU Delicado, Alicia

Results: 9

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 140, doi. 10.1111/cge.14440

By:

Parra, Alejandro;
Pascual, Patricia;
Cazalla, Mario;
Arias, Pedro;
Gallego‐Zazo, Natalia;
San‐Martín, Esteban A.;
Silván, Cristina;
Santos‐Simarro, Fernando;
Plasencia, Antonio;
Rosa, Alberto L.;
Blanquer, Aleixandre;
Garcı'a‐Alix, Alfredo;
Santana, Alfredo;
Delicado, Alicia;
Alonso, Almudena;
Rodriguez, Amaya;
Sanchis, Amparo;
Moreno, Ana;
Gar‐cía, Ana Patiño;
Vega, Ana

Publication type:

Article

Prevention of Senescence Progression in Reversibly Immortalized Human Ensheathing Glia Permits Their Survival After Deimmortalization.

Published in:

Molecular Therapy, 2010, v. 18, n. 2, p. 394, doi. 10.1038/mt.2009.268

By:

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

Publication type:

Article

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 179, doi. 10.1007/s00439-006-0215-0

By:

Bartsch, Oliver;
Rasi, Sasan;
Delicado, Alicia;
Dyack, Sarah;
Neumann, Luitgard;
Seemanová, Eva;
Volleth, Marianne;
Haaf, Thomas;
Kalscheuer, Vera

Publication type:

Article

Rothmund-Thomson Syndrome and Addison Disease.

Published in:

Pediatric Dermatology, 1995, v. 12, n. 2, p. 164, doi. 10.1111/j.1525-1470.1995.tb00146.x

By:

Lapunzina, Pablo;
Fonseca, Eduardo;
Grada, Ricardo;
Delicado, Alicia

Publication type:

Article

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1018, doi. 10.1002/ajmg.a.36879

By:

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

Publication type:

Article

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1950, doi. 10.1002/ajmg.a.35960

By:

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

Publication type:

Article

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.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2963, doi. 10.1002/ajmg.a.35595

By:

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

Publication type:

Article

Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 915, doi. 10.1002/ajmg.a.33924

By:

Rodríguez, Laura;
Nevado, Julián;
Vallespin, Elena;
Palomares, María;
Golmayo, Luz;
Bonaglia, María Clara;
Delicado, Alicia;
Abarca, Elena

Publication type:

Article

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0116-3

By:

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

Publication type:

Article