Search Results - "Diaz Bustamante, A."

P6400Role of copy number variants in sudden cardiac death: genetic analysis and translation into clinical practice by Mates, J., Mademont-Soler, I., Campuzano, O., Sarquella-Brugada, G., Arbelo, E., Brugada, J., Garcia Pavia, P., Yotti, R., Gonzalez Hevia, J.I., Borregan, M., Trujillo, F., Diaz, F., Diaz Bustamante, A., Lopez Granados, A., Brugada, R.

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3869Targeted next-generation sequencing as a comprehensive test for patients with hypertrophic cardiomyopathy by Mademont-Soler, I., Mates, J., Campuzano, O., Sarquella-Brugada, G., Arbelo, E., Brugada, J., Garcia-Pavia, P., Yotti, R., Gonzalez-Hevia, J.I., Borregan, M., Trujillo, F., Diaz, F., Diaz De Bustamante, A., Lopez Granados, A., Brugada, R.

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Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother by Urioste, M, Valcarcel, E, Gomez, M A, Pinel, I, Garcia de León, R, Diaz de Bustamante, A, Tebar, R, Martinez-Frias, M L

“…This is the second reported case of a child with holoprosencephaly and trisomy 21. The first case was born to a diabetic woman; in our case, there was no…”
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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

“…We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb…”
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Balanced reciprocal translocation (X;20) limited to Wilms' tumor in a Wiedemann-Beckwith syndrome by Diaz de Bustamante, A, Delicado, A, Garcia de Miguel, P, Darnaude, M T, de Torres, M L, Zumel, R M, Lopez Pajares, I

“…A girl aged 4 years 3 months with sporadic unilateral Wilms' tumor associated with Wiedemann-Beckwith syndrome, but without aniridia, was found to have a…”
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De novo 10q23 interstitial deletion by Mori, M A, Gomez-Sabrido, F, Diaz de Bustamante, A, Pinel, I, Martinez-Frias, M L

“…To the author's knowledge there is only one other reported case with a 10q23 deletion. The clinical features described in that report are very similar to those…”
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An unusual variant of chromosome 16: two new cases by PINEL, I, DIAZ DE BUSTAMANTE, A, URIOSTE, M, FELIX, V, URETA, A, MARTINEZ-FRIAS, M. L

“…Two new cases of an unusual chromosome 16 variant, 16p+, in non-related normal carriers are reported…”
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Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review by Zumel, R M, Darnaude, M T, Delicado, A, Diaz de Bustamante, A, de Torres, M L, López Pajares, I

“…This paper concerns the case of an anencephalus male fetus with partial trisomy 20p product of a maternal translocation 46,XX, t(15;20) (p11.2;p12),…”
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Partial monosomy 15q due to de novo t(15;22)(q15;p11) by Mori, M A, Rodriguez, L, Pinel, I, Casas, J M, Diaz de Bustamante, A, Martinez-Frias, M L

“…We report a 2-years-old infant who presented psychomotor delay and facial dysmorphic features. He has a partial monosomy of 15q resulting from de novo…”
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Genetic counselling in a prenatal marker chromosome identified as an i (18p) by in situ hybridization by Darnaude, M T, Diaz de Bustamante, A, Cabello, P, Vallcorba, I

“…The origin of a de novo metacentric small marker chromosome found in a cytogenetic study in amniotic fluid was determined by fluorescence in situ hybridization…”
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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

“…We report a 3 month old boy with tetraploidy, found in peripheral blood and skin fibroblast cultures, with severely delayed growth and neurodevelopment, and…”
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The 18p- syndrome. Report of five cases by Zumel, R M, Darnaude, M T, Delicado, A, Diaz de Bustamante, A, de Torres, M L, López-Pájares, I

“…Five children, three males and two females were found to have a short arm deletion of chromosome 18. Four of them display some of the typical features of this…”
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Myasthemia gravis and myotonic dystrophy in the same patient by Benito-León, J, Porta-Etessam, J, Díaz de Bustamante, A

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Miastenia gravis y distrofia miotónica en una misma paciente by Benito León, Julián, Porta Etessam, Jesús, Díaz de Bustamante, Arantxa

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Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation by Mori, M A, Gomar, J L, Diaz de Bustamante, A, Ananias, A, Pinel, I, Martinez-Frias, M L

“…We report on a male infant with a duplication 9p (pter---q13) and duplication 16p (p13---pter) resulting from a 3:1 meiotic disjunction of a maternal…”
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Myasthemia gravis and myotonic dystrophy in the same patient by Benito-León, J, Porta-Etessam, J, Díaz de Bustamante, A

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A case of neonatal Pallister-Killian syndrome (tetrasomy 12p) by González de Dios, J, García-Alix Pérez, A, Díaz de Bustamante, A, Delicado Navarro, A, Arés Segura, S, Salas Hernández, S, Quero Jiménez, J

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Familial reciprocal translocations: estimation of the most probable imbalance in the offspring by Díaz de Bustamante Zulueta, A, Mori Alvarez, M A, Pinel de la Cruz, I, Urioste Azcorra, M, Martínez Frias, M L

“…Four familial reciprocal translocations detected in a chromosomic study made to a population of newborn babies with two or more congenital defects following…”
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