Zobrazeno 1 - 10
of 56
pro vyhledávání: '"J. M. Cantu"'
Autor:
J. M. Cantu, F. Alfaro, J. M. Herrera, B. Hernandez, L. C. Aguilar, A. Islas, Roser Cortés, Ricardo Martín, S. Cruz, E. Portillo, P. Rosique
Publikováno v:
Journal of Intellectual Disability Research. 37:507-520
Basic fibroblast growth factor (bFGF) has shown a neurotrophic effect in the neurons of several CNS areas. In vivo, it contributes to restore neurochemical and morphological deficits in different rodent models of brain damage, including rats with bra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7185aabe62e4f0f545f89b004e02bd76
https://doi.org/10.1111/j.1365-2788.1993.tb00321.x
https://doi.org/10.1111/j.1365-2788.1993.tb00321.x
Autor:
M.P. Montesi, Ranjan Duara, T. Tsuda, Jonathan L. Haines, Amalia C. Bruni, Rudolph E. Tanzi, N. Alexandrova, James F. Gusella, J. M. Cantu, Fabio Macciardi, Allen D. Roses, Walter J. Lukiw, Lindsay A. Farrer, Ekaterina Rogaeva, James L. Kennedy, Sandro Sorbi, M. Mortilla, Karen Schlumpf, L. Nee, Evgeny I. Rogaev, L. Bergamini, Daniel A. Pollen, Innocenzo Rainero, P. St. George-Hyslop, R. Polinsky, Luigi Amaducci, Yan Liang, J. F. Foncin, Margaret A. Pericak-Vance, D. R. Crapper McLachlan, G. Vaula, Lorenzo Pinessi
Publikováno v:
Nature Genetics. 2:330-334
Familial Alzheimer's disease (FAD) has been shown to be genetically heterogeneous, with a very small proportion of early onset pedigrees being associated with mutations in the amyloid precursor protein (APP) gene on chromosome 21, and some late onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fbad04d63d78611679fedf076a5228c
https://doi.org/10.1038/ng1292-330
https://doi.org/10.1038/ng1292-330
A distinct dysmorphic syndrome with congenital glaucoma and probable autosomal recessive inheritance
Autor:
F. Chavez-Anaya, Q. Rojas, José Sánchez-Corona, Z. Nazara, J. M. Cantu, V. Villar, R. Mendoza, M. T. Barrios, Diana García-Cruz, M. O. García-Cruz
Publikováno v:
Ophthalmic Paediatrics and Genetics. 11:35-40
Three sisters with congenital glaucoma, peculiar facies and mild skeletal anomalies are described. It is concluded that such an aggregate of anomalies probably corresponds to a 'new' autosomal recessive syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9abee6ec5b08b84778e414ef0ac0bbc
https://doi.org/10.3109/13816819009012947
https://doi.org/10.3109/13816819009012947
Publikováno v:
Clinical genetics. 61(5)
Hypertrichosis is a rare condition characterized by excessive growth of hair (terminal, vellus or lanugo) in areas of the body that are not predominantly androgen dependent, and it is independent of age, race or sex. It can be congenital, late-onset,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0d14251dd478c4e2963a381e9f29ee9d
https://pubmed.ncbi.nlm.nih.gov/12081714
https://pubmed.ncbi.nlm.nih.gov/12081714
Autor:
M G, Ramirez-Dueñas, E A, Rogaeva, C A, Leal, C, Lin, G A, Ramirez-Casillas, J A, Hernandez-Romo, P H, St George-Hyslop, J M, Cantu
Publikováno v:
Annales de genetique. 41(3)
A search for mutations in exons 6, 7, 9 and 12 of the PS1 gene in four Mexican families with Early-Onset (36-40 years) Alzheimer Disease yielded the discovery in one family of a T--C mismatch in exon 7 which correspond to nucleotide 760 of cDNA, lead
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a18793329feb755f6ce36ac6fee6f16f
https://pubmed.ncbi.nlm.nih.gov/9833068
https://pubmed.ncbi.nlm.nih.gov/9833068
Publikováno v:
Genetic counseling (Geneva, Switzerland). 5(4)
The Aarskog syndrome is a true MCA syndrome with X-linked recessive inheritance. The clinical phenotype, and its evolution with age, have been well documented in the past. Few data are reported on the radiological skeletal changes and findings. The p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5e65259c8ada251dbd8d6552a8ba5abb
https://pubmed.ncbi.nlm.nih.gov/7888143
https://pubmed.ncbi.nlm.nih.gov/7888143
Publikováno v:
Annales de genetique. 36(3)
A familial 4;13 translocation showed three different segregations and two kinds of imbalances: two brothers had a distal trisomy 13 [46,XY,-4,+der 4, t(4;13)(q35;q14)mat] and their maternal uncle had a proximal trisomy 13 [47, XY,+der13,t(4;13)(q35;q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4d0d138b0ad30e7a9693b453117d3ecd
https://pubmed.ncbi.nlm.nih.gov/8117066
https://pubmed.ncbi.nlm.nih.gov/8117066
Autor:
Ronald J. Polinsky, B. O'Donnell, Leonard L. Heston, A. Haynes, L. Bergamini, G. De Winter, H Backhovens, J. F. Foncin, L. Connor, C. Van Broeckhoven, Richard H. Myers, David A. Drachman, Stefano F. Cappa, K. Abe, Luigi Amaducci, John Hardy, J. J. Martin, Lindsay A. Farrer, Antoon Vandenberghe, H. Karlinsky, Richard Mayeux, L. Pinessi, C. Ruiz, M. E. Percy, Rossella Tupler, J. Henry, D. R. Crapper McLachlan, Robert G. Feldman, Martin N. Rossor, M.P. Montesi, Daniel A. Pollen, P. Frommelt, M. Mortilla, P Roques, James F. Gusella, M. Fracarro, Jonathan L. Haines, Voskresenskaya Ni, L James, Michael Mullan, Paul C. Watkins, V. A. Fried, Linda Nee, P. St. George-Hyslop, J. M. Cantu, Amalia C. Bruni, N. Nacmias, Sandro Sorbi, G. Vaula, Robert Williamson, Innocenzo Rainero, Alison Goate, Gavrilova Si, John H. Growdon, M. Vartanian, M. J. Owen, G. Gei, Marianne James, Stephen S. Rich, Rudolph E. Tanzi, J. Swearer, Marc Bruyland, Harry T. Orr, M. E. Franco, Silvia Piacentini, J. Gheuens
Publikováno v:
Nature
Alzheimer's disease, a fatal neurodegenerative disorder of unknown aetiology, is usually considered to be a single disorder because of the general uniformity of the disease phenotype. Two recent genetic linkage studies revealed co-segregation of fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c81e757dca0d17ac30011aa71a54324
https://hdl.handle.net/10067/1434090151162165141
https://hdl.handle.net/10067/1434090151162165141
Autor:
Vicente Cortés-Gallegos, Alfred Gallegos, Armendares S, V. del Castillo, J M Cantu, F. Salamanca, Carlos Cervantes, S. Nava, A. Parra, E. Dominguez-de-la-Piedra
Publikováno v:
Human Genetics. 29:99-109
Three affected siblings with the hermaphrodism are described. The propositi showed the following characteristics: male phenotype and gender role, hypospadias, bilateral scrotal ovotestes with palpable nodules, and absence of müllerian structures. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc3b8cb76174235b37992b14347db941
https://doi.org/10.1007/bf00430346
https://doi.org/10.1007/bf00430346
Autor:
J. M. Cantu
Publikováno v:
Archives of Dermatology. 114:1807-1809
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3954bd59027702a04f1b97dfec026956
https://doi.org/10.1001/archderm.114.12.1807
https://doi.org/10.1001/archderm.114.12.1807