Search Results - "Bermejo Sánchez, E"

Frecuencias de defectos congénitos al nacimiento en España y su comportamiento temporal y por comunidades autónomas. Causas de las variaciones de las frecuencias by Bermejo Sánchez, E

“…ResumenSe presenta una revisión de los principales aspectos derivados del estudio de la frecuencia de los defectos congénitos, explicando la importancia y…”
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The European recommendations for primary prevention of congenital anomalies by Taruscio, D., Arriola, L., Baldi, F., Barisic, I., Bermejo-Sánchez, E., Bianchi, F., Calzolari, E., Carbone, P., Curran, R., Garne, E., Gatt, M., Irgens, L., Latos-Bieleńska, A., Khoshnood, B., Mantovani, A., Martínez-Frías, M.L., Neville, A., Rißmann, A., Ruggeri, S., Wellesley, D., Dolk, H.

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Characteristics of neonates with and without a single umbilical artery. Analysis of two consecutive series of neonates with and without congenital defects by Martínez-Frías, M L, Bermejo-Sánchez, E, Rodríguez-Pinilla, E, Prieto-Merino, D

“…The implications of the presence of a single umbilical artery (SUA) are unknown. Although most articles are based on selected samples, they suggest a…”
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Características de los neonatos con y sin arteria umbilical única. Análisis de dos series consecutivas de recién nacidos con y sin defectos congénitos by Martínez-Frías, M.ªL., Bermejo-Sánchez, E., Rodríguez-Pinilla, E., Prieto-Merino, D.

“…Se desconocen las implicaciones de la presencia de arteria umbilical única (AUU). Aunque la mayoría de los trabajos utilizan muestras seleccionadas, sugieren…”
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A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome by Carrascosa-Romero, María Carmen, Suela, Javier, Pardal-Fernández, José Manuel, Bermejo-Sánchez, Eva, Vidal-Company, Alberto, MacDonald, Alexandra, Tébar-Gil, Roque, Martínez-Fernández, María Luisa, Martínez-Frías, María Luisa

“…We present a girl with the characteristic clinical picture associated with Marden–Walker syndrome (MWS; OMIM 248700), including mask‐like face with…”
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Clinical diagnosis of Down's syndrome based on 11 signs. Epidemiological analysis of the specificity of the studied signs by Martínez-Frías, M L, Bermejo Sánchez, E, Rodríguez Pinilla, E

“…Down's syndrome (trisomy 21) is the most frequent viable chromosomal abnormality, as well as the only one that can be postnatally diagnosed on the basis of a…”
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Low birth weight as an additional indication for chromosomal analysis by Martínez-Frías, M L, Bermejo Sánchez, E, Rodríguez Pinilla, E, Villa, A

“…Even though there are few epidemiological studies evaluating the birth weights of different groups of malformed babies with chromosomal abnormalities, it is…”
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Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases by Martínez-Frías, M L, Bermejo Sánchez, E, Félix, V, Calvo Celada, R, Ayala Garcés, A, Hernández Ramón, F

“…Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose,…”
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Wiedemann-Beckwith syndrome: clinical and epidemiological analysis of a consecutive series of cases in Spain by Arroyo Carrera, I, Martínez-Frías, M L, Egüés Jimeno, J, García Martínez, M J, Eloína Cimadevilla Sánchez, C, Bermejo Sánchez, E

“…Wiedemann-Beckwith syndrome is a multisystemic pattern of congenital anomalies with overgrowth. The most characteristic clinical features are macroglossia,…”
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The Townes-Brocks syndrome in Spain: the epidemiological aspects in a consecutive series of cases by Martínez-Frías, M L, Bermejo Sánchez, E, Arroyo Carrera, I, Pérez Fernández, J L, Pardo Romero, M, Burón Martínez, E, Hernández Ramón, F

“…Townes-Brocks syndrome is constituted by a multi-systemic pattern of congenital anomalies with autosomal dominant inheritance. The most characteristic defects…”
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An epidemiological study of the thrombocytopenia with radial aplasia syndrome (TAR) in Spain by Martínez-Frías, M L, Bermejo Sánchez, E, García García, A, Pérez Fernández, J L, Cucalón Manzanos, F, Calvo Aguilar, M J, Ripalda Crespo, M J

“…There are numerous published papers on TAR syndrome. Nevertheless, most of them refer to cases or families with several affected members, but we could find no…”
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Jarcho-Levin and Casamassima syndromes: differential diagnosis and frequency in Spain by Martínez-Frías, M L, Bermejo Sánchez, E, Martínez Santana, S, Nieto Conde, C, Egüés Jimeno, J, Pérez Fernández, J L, Foguet Vidal, A

“…Jarcho-Levin syndrome is characterized by the presence of only costal-vertebral defects. However, this diagnosis has been used in any case presenting with…”
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Birth weight of children born without congenital defects. I. Birthweight percentiles by gestational age by Martínez-Frías, M L, Prieto Valiente, L, Bermejo Sánchez, E, Gaya Moreno, F

“…We studied the birthweight by gestational age and sex from a population of 14,097 liveborns without congenital defects who were monitored by the Spanish…”
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Birth weight of infants born without congenital defects. II. Effect of tobacco and parity of the mother on the wight of the newborn infant by Martínez-Frías, M L, Prieto Valiente, L, Bermejo Sánchez, E, Gaya Moreno, F

“…We analyzed the effect that number of gestations, smoking and number of cigarettes per day during pregnancy have on the birthweight using a sample of 14,097…”
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Etiologic distribution of children with congenital defects by Martínez Frías, M L, Rodríguez Pinilla, E, Bermejo Sánchez, E, Urioste Azcorra, M, Villa Milla, A, Lorda Sánchez, I, Frías, J L

“…Although it has been generally admitted that we know the cause of congenital malformations in about 40% of the cases, these data are based on very few studies…”
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Syndromes with neural tube defects: epidemiologic analysis in Spain by Martínez-Frías, M L, Félix Rodríguez, V, Hernández Ramón, F, Martín Bermejo, M, López Soler, J A, Ayala Garcés, A, Bermejo Sánchez, E, Rodríguez Pinilla, E

“…We present, from an epidemiological perspective, the analysis of syndromes which present neural tube defects (NTD). Although there are many epidemiological…”
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Anophthalmia/micro-ophthalmia in syndromes: epidemiology study of newborns in Spain by Bermejo Sánchez, E, Ayala Garcés, A, Félix Rodríguez, V, Martín Bermejo, M, Blanco García, M, Egüés Jimeno, J, Huertas Camacho, H, Jiménez Muñoz-Delgado, N, Paisán Grisolía, L, Martínez-Frías, M L

“…The objective of this study was to perform an epidemiological analysis of the frequency of anophthalmia/microphthalmia (A/M) in syndromes identified in newborn…”
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Epidemiological aspects of children of women with bicornuate uterus by Martínez-Frías, M L, Bermejo Sánchez, E, Rodríguez-Pinilla, E, Martínez Santana, S, Paisán Grisolía, L, Egüés Jimeno, J, Arroyo Carrera, I, Blanco García, M, López Soler, J A, Martín Bermejo, M, Gairi Tahull, J M, Moral García, A, Galán Gómez, E, Frías, J L

“…Most published papers on women with a bicornuate uterus analyze their fertility problems, as well as certain pregnancy complications. We have not found any…”
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The Hay-Wells syndrome, its incidence in Spain and a review of the literature by Martínez-Frías, M L, Martín Bermejo, M, Ayala Garcés, A, Pardo Romero, M, Bermejo Sánchez, E, Urioste Azcorra, M

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