ANGELICA ALLIENDE

Summary

Affiliation: INTA UNIVERSITY OF CHILE
Location: SANTIAGO, CHILE
Summary:
Associate professor in charge of the Molecular Cytogenetics Laboratory, INTA University of Chile. Coordinator of the Clinic of diagnostic, treatment and follow up for fragile X patient and families and academic coordinator of the post graduate on line course: “ACTUALIZACIÓN EN DIAGNÓSTICO CITOGENÉTICO MOLECULAR DE ENFERMEDADES GENÉTICAS Y NEOPLÁSICAS” Cursos E- Learning www.inta.cl
Publications:
1.Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital. Alliende et al. Rev Med Chile 2011; 139: 298-305
2.Genetic screening to determine an etiologic diagnosis in children with mental retardation].
Alliende MA, Cámpora L, Curotto B, Toro J, Valiente A, Castillo M, Cortés F, Trigo C, Alvarado C, Silva M, Caru M.
Rev Med Chil. 2008 Dec;136(12):1542-51. Epub 2009 Mar 23. Spanish.
PMID:

[PubMed - indexed for MEDLINE]

3.Methylation status in healthy subjects with normal and high serum folate concentration.
Hirsch S, Ronco AM, Guerrero-Bosagna C, de la Maza MP, Leiva L, Barrera G, Llanos M, Alliende MA, Silva F, Bunout D.
Nutrition. 2008 Nov-Dec;24(11-12):1103-9. Epub 2008 Jul 23.
PMID:

[PubMed - indexed for MEDLINE]
4.[Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ].
Nitsche F, Alliende MA, Santos JL, Pérez F, Santa María L, Hertrampf E, Cortés F.
Rev Med Chil. 2003 Dec;131(12):1399-404. Spanish.
PMID:

[PubMed - indexed for MEDLINE]
5.A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
Rojas CV, María LS, Santos JL, Cortés F, Alliende MA.
Eur J Hum Genet. 2002 Oct;10(10):638-42.
PMID:

[PubMed - indexed for MEDLINE]
6.[Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis].
Santa María L, Curotto B, Cortés F, Rojas C, Alliende MA.
Rev Med Chil. 2001 Apr;129(4):367-74. Spanish.
PMID:

[PubMed - indexed for MEDLINE]
7.[Direct molecular analysis of FMR-1 gene mutation in patients with fragile Xq syndrome and their families].
Alliende MA, Urzúa B, Valiente A, Cortés F, Curotto B, Rojas C.
Rev Med Chil. 1998 Dec;126(12):1435-46. Spanish.
PMID:

[PubMed - indexed for MEDLINE]

Publications

  1. ncbi [Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis]
    L Santa Maria
    Bioquímico Universidad de Chile
    Rev Med Chil 129:367-74. 2001
  2. ncbi A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate
    Cecilia V Rojas
    INTA, Universidad de Chile, Casilla 138 11, Santiago, Chile
    Eur J Hum Genet 10:638-42. 2002
  3. ncbi [Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ]
    Felipe Nitsche
    Programa de Genética y Enfermedades Metabólicas, INTA, Universidad de Chile, Macul 5540, Casilla 138 11, Santiago de Chile
    Rev Med Chil 131:1399-404. 2003
  4. doi Methylation status in healthy subjects with normal and high serum folate concentration
    Sandra Hirsch
    Aging and Chronic Diseases Laboratory, INTA, University of Chile, Santiago, Chile
    Nutrition 24:1103-9. 2008
  5. doi [Genetic screening to determine an etiologic diagnosis in children with mental retardation]
    M Angelica Alliende
    Unidad de Genética y Enfermedades Metabólicas, Instituto de Nutricion y Tecnologia de los Alimentos, Universidad de Chile, Chile
    Rev Med Chil 136:1542-51. 2008
  6. doi [Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital]
    M Angelica Alliende
    Instituto de Nutricion y Tecnologia de los Alimentos, Universidad de Chile, Santiago, Chile
    Rev Med Chil 139:298-305. 2011

Detail Information

Publications6

  1. ncbi [Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis]
    L Santa Maria
    Bioquímico Universidad de Chile
    Rev Med Chil 129:367-74. 2001
    ....
  2. ncbi A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate
    Cecilia V Rojas
    INTA, Universidad de Chile, Casilla 138 11, Santiago, Chile
    Eur J Hum Genet 10:638-42. 2002
    ..The severely truncated beta-subunit is likely to render a nonfunctional cone CNG channel and cause total colour blindness in this kindred...
  3. ncbi [Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ]
    Felipe Nitsche
    Programa de Genética y Enfermedades Metabólicas, INTA, Universidad de Chile, Macul 5540, Casilla 138 11, Santiago de Chile
    Rev Med Chil 131:1399-404. 2003
    ..There are regional and ethnic variations in the genotypic or allelic frequency of this mutation and its possible relationship with NTD and others congenital anomalies...
  4. doi Methylation status in healthy subjects with normal and high serum folate concentration
    Sandra Hirsch
    Aging and Chronic Diseases Laboratory, INTA, University of Chile, Santiago, Chile
    Nutrition 24:1103-9. 2008
    ....
  5. doi [Genetic screening to determine an etiologic diagnosis in children with mental retardation]
    M Angelica Alliende
    Unidad de Genética y Enfermedades Metabólicas, Instituto de Nutricion y Tecnologia de los Alimentos, Universidad de Chile, Chile
    Rev Med Chil 136:1542-51. 2008
    ..An early etiologic diagnosis of intellectual disability can lead to opportunities for improved educational interventions, reinforcing weak areas and providing a genetic counseling to the family...
  6. doi [Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital]
    M Angelica Alliende
    Instituto de Nutricion y Tecnologia de los Alimentos, Universidad de Chile, Santiago, Chile
    Rev Med Chil 139:298-305. 2011
    ..They account for 0.3 to 1% of newborns (NB) and 6 of 10,000 NB have chromosome imbalances with submicroscopic deletions or duplications smaller than 10 MB that are overlooked by conventional cytogenetic studies...