Zobrazeno 1 - 5
of 5
pro vyhledávání: '"M. Luisa de Torres"'
Autor:
M. Luisa de Torres, Marcelo Navia, Anton Goma, Alba Gairí, Pablo Lapunzina, Isidora López Pajares, Alicia Delicado, M. Ángeles Mori
Publikováno v:
American Journal of Medical Genetics Part A. :45-51
We report on six additional patients with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC; MIM 602501) and review the literature. This syndrome is a multiple congenital anomalies/mental retardation and overgrowth disorder comprising ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88c6e46153d977895bf6fe88c43289eb
https://doi.org/10.1002/ajmg.a.30235
https://doi.org/10.1002/ajmg.a.30235
Autor:
Elena Mansilla, Julián Nevado, Maria Palomares Bralo, Elena Vallespín, M. Carmen Crespo, Rubén Martín, Fernando Santos, Victoria E. M-Montaño, M. Luisa de Torres, Sixto García-Miñaur, Fe Amalia García-Santiago, M. Ángeles Mori, Victor Martinez-Glez, Alicia Delicado, Sol Martín, Pablo Lapunzina, Luis Fernández
Publikováno v:
American journal of medical genetics. Part A. (8)
High-resolution array comparative genomic hybridization (aCGH) is a powerful molecular cytogenetic tool that is being adopted for diagnostic evaluation of genomic imbalances and study disease mechanisms and pathogenesis. We report on the design and u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16c1381393d5ddf4a586c658e08e501
https://pubmed.ncbi.nlm.nih.gov/23798500
https://pubmed.ncbi.nlm.nih.gov/23798500
Autor:
Pablo, Lapunzina, Alba, Gairí, Alicia, Delicado, M Angeles, Mori, M Luisa de, Torres, Anton, Goma, Marcelo, Navia, Isidora López, Pajares
Publikováno v:
American journal of medical genetics. Part A. (1)
We report on six additional patients with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC; MIM 602501) and review the literature. This syndrome is a multiple congenital anomalies/mental retardation and overgrowth disorder comprising ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::691040683ea2ac896655335be77c24bc
https://pubmed.ncbi.nlm.nih.gov/15368495
https://pubmed.ncbi.nlm.nih.gov/15368495
Autor:
M. Luisa de Torres, J. del Mazo, J. A. Abrisqueta, M. José Martín, Amalia Pérez-Castillo, V. Aller, M. Angeles Martín Lucas
Publikováno v:
Human Genetics. 44:105-108
A new case of ring chromosome 4 in a 2-day-old female child with multiple malformations is described. By means of the GTG-banding technique, a karyotype 46,XX,r(4), (p16 leads to q35) was determined. The characteristics of the child's karyotype and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e5e1bed63817dff07781f74fb85d747
https://doi.org/10.1007/bf00283580
https://doi.org/10.1007/bf00283580
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