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1

Familial translocation t(10;21)(q22;q22)

Alicia Delicado, Isidora Lopez Pajares, P. Vicente, F. Hawkins

Journal:

Year:

1979

Language:

english

File:

PDF, 477 KB

english, 1979

2

A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings

María A. Mori, Pablo Lapunzina, Alicia Delicado, Guillermo Núñez, José I. Rodríguez, María L. de Torres, Francisco Herrero, Eva Valverde, Isidora López-Pajares

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 193 KB

english, 2004

3

Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review

Pablo Lapunzina, Alba Gairí, Alicia Delicado, M. Angeles Mori, M. Luisa de Torres, Anton Goma, Marcelo Navia, Isidora López Pajares

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 320 KB

english, 2004

4

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Luis Fernández, Pablo Lapunzina, Isidora López Pajares, María Palomares, Isabel Martínez, Blanca Fernández, José Quero, Luis García-Guereta, Alfredo García-Alix, Margarita Burgueros, Enrique Galán-Góm

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 137 KB

english, 2008

5

Direct tandem duplication in chromosome 19q characterized by array CGH

Maria Palomares Bralo, Alicia Delicado, Pablo Lapunzina, Ramón Velázquez Fragua, Olaya Villa, Maria Ángeles Mori, Maria Luisa de Torres, Luis Fernández, Luis A. Pérez Jurado, Isidora López Pajares

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 281 KB

english, 2008

6

Ultrastructure of Leydig cells in Klinefelter’s syndrome with 48, XXYY karyotype

Manuel Nistal, Ricardo Paniagua, Isidora López-Pajares

Journal:

Virchows Archiv B Cell Pathology Zell-pathologie

Year:

1978

Language:

english

File:

PDF, 1.91 MB

english, 1978

7

The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population

Silvia Gutierrez, Luis Magano, Alicia Delicado, María A. Mori, María L. de Torres, Luis Fernández, María Palomares, Eva Fernández, Gemma R. Tarduchy, Jesús Molano, Ricardo Gracia, Isidora López Pajare

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 97 KB

english, 2006

8

Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene

Véronique Satre, Nicole Monnier, Florence Berthoin, Carmen Ayuso, Alain Joannard, Pierre-Simon Jouk, Isidora Lopez-Pajares, André Megabarne, Henri Jean Philippe, Henri Plauchu, Maria Luisa Torres, Joë

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 264 KB

english, 1999

9

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

Luis Fernández, Julián Nevado, Fernando Santos, Damià Heine-Suñer, Victor Martinez-Glez, Sixto García-Miñaur, Rebeca Palomo, Alicia Delicado, Isidora López Pajares, María Palomares, Luis García-Gueret

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 2.49 MB

english, 2009

10

A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail

Pablo Lapunzina, Alejandra Fernández, Juan M. Sánchez Romero, Alicia Delicado, Miguel Sáenz de Pipaon, Isidora López Pajares, Jesús Molano

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2005

Language:

english

File:

PDF, 232 KB

english, 2005

11

Beckwith–Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a “de novo” pericentric inversion of chromosome Y

Alicia Delicado, Pablo Lapunzina, María Palomares, Maria Antonia Molina, Enrique Galán, Isidora López Pajares

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 177 KB

english, 2005

12

Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome

Luis Fernández, Pablo Lapunzina, Isidora López Pajares, Germán Rodríguez Criado, Luis García-Guereta, Jesús Pérez, José Quero, Alicia Delicado

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 105 KB

english, 2005

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