Frecuencia de algunas enfermedades genéticas en Neuropediatría

作者: Edelsia Rojas Massipe , Vivian Bermúdez Linares , Tatiana Zaldívar Vaillant , Lucía Margarita Novoa López , José Vargas Díaz

DOI:

关键词: Medicine

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参考文章(17)
Luis Alberto Gayol Mecías, Raúl Ferreira Capote, Ricardo Santiago Luis González, Mayra Rodríguez Hernández, Caracterización de deleciones en el gen responsable de la distrofia muscular de Duchenne: su frecuencia en pacientes cubanos Revista Cubana de Medicina. ,vol. 35, pp. 81- 86 ,(1996)
I. C. Verma, Renu Saxena, Meena Lall, Sunita Bijarnia, Rajesh Sharma, Genetic counseling and prenatal diagnosis in India--experience at Sir Ganga Ram Hospital. Indian Journal of Pediatrics. ,vol. 70, pp. 293- 297 ,(2003) , 10.1007/BF02723582
Maria Jedrzejowska, Michal Milewski, Janusz Zimowski, Pawel Zagozdzon, Anna Kostera-Pruszczyk, Janina Borkowska, Danuta Sielska, Marta Jurek, Irena Hausmanowa-Petrusewicz, Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted? Neuroepidemiology. ,vol. 34, pp. 152- 157 ,(2010) , 10.1159/000275492
Thomas D. Bird, Approaches to the Patient with Neurogenetic Disease Clinics in Laboratory Medicine. ,vol. 30, pp. 785- 793 ,(2010) , 10.1016/J.CLL.2010.07.009
I. C. Verma, Burden of genetic disorders in india The Indian Journal of Pediatrics. ,vol. 67, pp. 893- 898 ,(2000) , 10.1007/BF02723953
Jehannine C. Austin, Christina G. S. Palmer, Beth Rosen-Sheidley, Patricia McCarthy Veach, Elizabeth Gettig, Holly L. Peay, Psychiatric Disorders in Clinical Genetics II: Individualizing Recurrence Risks Journal of Genetic Counseling. ,vol. 17, pp. 18- 29 ,(2008) , 10.1007/S10897-007-9121-4
M. A. Letourneau, D. L. MacGregor, P. T. Dick, E. J. McCabe, A. J. Allen, V. W. Chan, L. J. MacMillan, M. R. Golomb, Use of a telephone nursing line in a pediatric neurology clinic: one approach to the shortage of subspecialists. Pediatrics. ,vol. 112, pp. 1083- 1087 ,(2003) , 10.1542/PEDS.112.5.1083
Yi-Ning Su, Chia-Cheng Hung, Shin-Yu Lin, Fang-Yi Chen, Jimmy P. S. Chern, Chris Tsai, Tai-Sheng Chang, Chih-Chao Yang, Hung Li, Hong-Nerng Ho, Chien-Nan Lee, Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study PLoS ONE. ,vol. 6, pp. e17067- ,(2011) , 10.1371/JOURNAL.PONE.0017067
Ulrich Müller, Manuel B. Graeber, Gerd Haberhausen, Angelika Köhler, Molecular basis and diagnosis of neurogenetic disorders. Journal of the Neurological Sciences. ,vol. 124, pp. 119- 140 ,(1994) , 10.1016/0022-510X(94)90318-2
L Kerzin-Storrar, C Wright, PR Williamson, A Fryer, A Njindou, O Quarrell, D Donnai, D Craufurd, Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients Journal of Medical Genetics. ,vol. 39, pp. 85- ,(2002) , 10.1136/JMG.39.12.E85