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Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome
by
Fernández, L
,
Lapunzina, P
,
Arjona, D
,
López Pajares, I
,
García-Guereta, L
,
Elorza, D
,
Burgueros, M
,
De Torres, ML
,
Mori, MA
,
Palomares, M
,
García-Alix, A
,
Delicado, A
Published in
Clinical genetics
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Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review
by
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
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MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation
by
Palomares, M
,
Delicado, A
,
Lapunzina, P
,
Arjona, D
,
Amiñoso, C
,
Arcas, J
,
Martinez Bermejo, A
,
Fernández, L
,
López Pajares, I
Published in
Clinical genetics
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Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome
by
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
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A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail
by
Lapunzina, Pablo
,
Fernández, Alejandra
,
Sánchez Romero, Juan M.
,
Delicado, Alicia
,
Sáenz de Pipaon, Miguel
,
López Pajares, Isidora
,
Molano, Jesús
Published in
Birth defects research. A Clinical and molecular teratology
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Beckwith–Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a “de novo” pericentric inversion of chromosome Y
by
Delicado, Alicia
,
Lapunzina, Pablo
,
Palomares, María
,
Molina, Maria Antonia
,
Galán, Enrique
,
Pajares, Isidora López
Published in
European journal of medical genetics
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Tetraploidy in a liveborn infant
by
López Pajares, I
,
Delicado, A
,
Diaz de Bustamante, A
,
Pellicer, A
,
Pinel, I
,
Pardo, M
,
Martin, M
Published in
Journal of medical genetics
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A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36)
by
Delicado, A
,
Escribano, E
,
Lopez Pajares, I
,
Diaz de Bustamante, A
,
Carrasco, S
Published in
Journal of medical genetics
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Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
by
Karadima, G
,
Bugge, M
,
Nicolaidis, P
,
Vassilopoulos, D
,
von Beust, G
,
Pajares, IL
,
Albrecht, B
,
Anneren, G
,
Avramopoulos, D
,
Blennow, E
,
Brondum-Nielsen, K
,
Clausen, N
,
Galla-Voumvouraki, A
,
Grigoriadou, M
,
Hahnemann, JM
,
Hertz, JM
,
Kitsiou-Tzeli, S
,
Lacombe, D
,
Miller, K
,
Moncla, A
,
Passarge, E
,
Patsalis, PC
,
Prieur, M
,
Tsezou, A
,
Vekemans, M
,
Petersen, MB
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Conference Proceeding
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Influence of Suillus luteus on Fusarium damping-off in pine seedlings
by
Estefania, Mateos
,
Jaime, Olaizola
,
Juan, Alberto Pajares
,
Valentín, Pando
,
Julio, Javier Diez
Published in
African journal of biotechnology
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Application clinique des nouveaux traceurs TEP en oncologie. La vision d’un médecin nucléaire en Espagne
by
Freire Macias, J.M.
,
Pajares Vinardell, M.
Published in
Médecine nucléaire : imagerie fonctionelle et métabolique
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