TY  - JOUR
AU  - Macher, Hada C
AU  - Martinez-Broca, Maria A
AU  - Rubio-Calvo, Amalia
AU  - Leon-Garcia, Cristina
AU  - Conde-Sanchez, Manuel
AU  - Costa, Alzenira
AU  - Navarro, Elena
AU  - Guerrero, Juan M
PY  - 2012
DO  - 10.1371/journal.pone.0051024
UR  - http://hdl.handle.net/10668/818
T2  - PloS one
AB  - The multiple endocrine neoplasia type 2A (MEN2A) is a monogenic disorder characterized by an autosomal dominant pattern of inheritance which is characterized by high risk of medullary thyroid carcinoma in all mutation carriers. Although this disorder...
LA  - en
PB  - Public Library of Science
KW  - Diagnóstico Prenatal
KW  - Neoplasia Endocrina Múltiple
KW  - Neoplasia Endocrina tipo 2A
KW  - Técnicas de Genotipaje
KW  - Mutación
KW  - ADN Polimerasa
KW  - Mujeres Embarazadas
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Obstetrical and Gynecological::Prenatal Diagnosis
KW  - Medical Subject Headings::Diseases::Endocrine System Diseases::Endocrine Gland Neoplasms::Multiple Endocrine Neoplasia
KW  - Medical Subject Headings::Diseases::Endocrine System Diseases::Endocrine Gland Neoplasms::Multiple Endocrine Neoplasia::Multiple Endocrine Neoplasia Type 2a
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genotyping Techniques
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction
KW  - Medical Subject Headings::Named Groups::Persons::Women::Pregnant Women
TI  - Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum.
TY  - research article
ER  -