Publicaciones en las que colabora con Eva Bermejo Sánchez (23)

2014

  1. Consideraciones generales de teratogenia: principales agentes teratogénicos

    Tratado de ginecología y obstetricia (Madrid : Médica Panamericana), pp. 1719-1725

  2. European recommendations for primary prevention of congenital anomalies: A joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the national rare disease plans

    Public Health Genomics, Vol. 17, Núm. 2, pp. 115-123

  3. Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 2, pp. 338-345

  4. Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 3, pp. 639-647

2013

  1. A 2.84Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome

    American Journal of Medical Genetics, Part A, Vol. 161, Núm. 9, pp. 2281-2290

  2. Patient with disorganization syndrome: Surgical procedures, Pathology, and potential causes

    Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 97, Núm. 12, pp. 781-785

2011

  1. Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

    American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 157, Núm. 4, pp. 288-304

  2. Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype

    American Journal of Human Genetics, Vol. 89, Núm. 2, pp. 295-301

  3. Pautas de prevención de defectos congénitos con especial referencia a los niveles primario y secundario. Guías de actuación preventiva desde la atención primaria

    Semergen: revista española de medicina de familia, Núm. 8, pp. 412-417

  4. Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

    American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 157, Núm. 4, pp. 305-320

  5. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis

    American Journal of Medical Genetics, Part A, Vol. 155, Núm. 1, pp. 197-202

2010

  1. Ejemplos clínicos de alteracions crípticas del ADN, y guías para sospechar que un niño pueda tener alguna alteración críptica o molecular

    Semergen: revista española de medicina de familia, Núm. 10, pp. 573-578

  2. Prevention, diagnosis and services

    Advances in Experimental Medicine and Biology, Vol. 686, pp. 55-75

  3. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia

    American Journal of Medical Genetics, Part A, Vol. 152, Núm. 1, pp. 245-255

2009

  1. Epidemiological and clinical analysis of a consecutive series of conjoined twins in Spain

    Journal of Pediatric Surgery, Vol. 44, Núm. 4, pp. 811-820

2008

  1. Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications

    Medicina Clinica, Vol. 131, Núm. 19, pp. 741-746

  2. Análisis de las frecuencias de todas las combinaciones genotípicas de 4 polimorfismos de genes implicados en el ciclo del folato en la población Española

    Medicina Clinica, Vol. 131, Núm. 3, pp. 81-88

  3. Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants

    American Journal of Medical Genetics, Part A, Vol. 146, Núm. 1, pp. 15-25

  4. Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?

    American Journal of Medical Genetics, Part A, Vol. 146, Núm. 1, pp. 26-34

  5. Preferential associations between oral clefts and other major congenital anomalies

    Cleft Palate-Craniofacial Journal, Vol. 45, Núm. 5, pp. 525-532