Zobrazeno 1 - 10
of 128
pro vyhledávání: '"M L, Martínez Frías"'
Autor:
Amelia Villa, A. Martínez, S. Vázquez, M. C. Carrascosa, Miguel Urioste, M. L. Martínez-Frías
Publikováno v:
Clinical Genetics. 48:255-260
A family was cytogenetically studied because of the birth of a male child with a multiple congenital anomaly pattern, in whom a dup (4q) recombinant was found. His phenotypically normal mother's karyotype showed an apparently balanced pericentric inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cee4f8703e1f412ce43e5ee863723f0
https://doi.org/10.1111/j.1399-0004.1995.tb04100.x
https://doi.org/10.1111/j.1399-0004.1995.tb04100.x
Autor:
Giuseppe Zampino, J D Erickson, Claude Stoll, Martina C. Cornel, Richard S. Olney, Paul Merlob, Annukka Ritvanen, Osvaldo M. Mutchinick, Lorenzo D. Botto, E. E. Castilla, M. L. Martínez-Frías, Muin J. Khoury, Pierpaolo Mastroiacovo, Guido Cocchi, J. Goujard, Aldo Rosano
Publikováno v:
American Journal of Medical Genetics, 93(2), 110-116. WILEY-LISS
Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring, me pooled data from II birth defect registries
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070b1a6a01897ef0e71d4e735d2813b3
https://doi.org/10.1002/1096-8628(20000717)93:2<110::aid-ajmg6>3.0.co
https://doi.org/10.1002/1096-8628(20000717)93:2<110::aid-ajmg6>3.0.co
Publikováno v:
Teratology. 58:2-5
The question of whether systemic use of corticosteroids during the first trimester of pregnancy increases the risk of congenital malformations in people has still not been resolved. Here, we present the results of a case-control study on the relation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab6d438a2a7de4f5afac0717cb022e51
https://doi.org/10.1002/(sici)1096-9926(199807)58:1<2::aid-tera2>3.0.co
https://doi.org/10.1002/(sici)1096-9926(199807)58:1<2::aid-tera2>3.0.co
Autor:
M. L. Martínez-Frías
Publikováno v:
American Journal of Medical Genetics. 73:176-179
In 1965, Torpin [1965; Am J Obstet Gynecol 91:65-75] concluded that fetal constrictions and amputations were related to amniotic membrane rupture. Since then, this view was accepted widely, although different terms were used due to the variation in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d697a359a607d8cb1b89c8beca9baea
https://doi.org/10.1002/(sici)1096-8628(19971212)73:2<176::aid-ajmg12>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19971212)73:2<176::aid-ajmg12>3.0.co
Autor:
M. L. Martínez-Frías
Publikováno v:
American Journal of Medical Genetics. 73:170-175
The spectrum of defects in cases with limb body wall complex (LBWC) is quite variable since other anomalies are also observed in infants with LBWC, and some cases do not have limb deficiencies. Van Allen et al. [Am J Med Genet 1987;28:529-548] propos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::825be56324cffd891f016bd9ae9fc880
https://doi.org/10.1002/(sici)1096-8628(1997)73:2<170::aid-ajmg11>3.0.co
https://doi.org/10.1002/(sici)1096-8628(1997)73:2<170::aid-ajmg11>3.0.co
Autor:
M. L. Martínez-Frías, Jaime L. Frias, C. Salamanca-Maesso, Juan J. Cardesa-García, Enrique Galán-Gómez, F. M. Campo-Sampedro
Publikováno v:
American Journal of Medical Genetics. 59:276-282
We describe 5 Spanish children with Kabuki make-up syndrome (KMS)—3 females and 2 males—identified in Badajoz, Spain, between 1988 and 1990. All had the characteristic clinical and radiological manifestations of the syndrome. Psychomotor/mental r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2ad8d7ac3df15e97970501a3caf3c1
https://doi.org/10.1002/ajmg.1320590303
https://doi.org/10.1002/ajmg.1320590303
Autor:
M. L. Martínez-Frías, M. Urioste
Publikováno v:
American Journal of Medical Genetics. 49:36-44
Opitz has defined developmental field defects (DFD) as "any dysmorphogenetically reactive unit of the developing organism that leads to final structure." We have incorporated in our coding system specific codes to identify individual DFDs in each chi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25bba2b2f583bc5e7793c32ce0b626fa
https://doi.org/10.1002/ajmg.1320490109
https://doi.org/10.1002/ajmg.1320490109
Autor:
Lammer Ej, M. L. Martínez-Frías, Roeper P, M. Michael Cohen, J D Erickson, Pierpaolo Mastroiacovo, Sven Kreiborg, José F. Cordero
Publikováno v:
American Journal of Medical Genetics. 42:655-659
Estimates of the Apert syndrome birth prevalence and the mutation rate are reported for Washington State, Nebraska, Denmark, Italy, Spain, Atlanta, and Northern California. Data were pooled to increase the number of Apert births (n = 57) and produce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb2b5295e55416e36b8132ec932ce4b
https://doi.org/10.1002/ajmg.1320420505
https://doi.org/10.1002/ajmg.1320420505
Autor:
F J, Climent Alcalá, M A, Molina Rodríguez, I, González Casado, L, Osona Bris, L, Salamanca Fresno, J, Guerrero-Fernández, M L, Martínez-Frías, R, Gracia Bouthelier
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003). 72(3)
Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype.We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1e765164409063d742bca0b548e69922
https://pubmed.ncbi.nlm.nih.gov/20138017
https://pubmed.ncbi.nlm.nih.gov/20138017
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003). 65(6)
The implications of the presence of a single umbilical artery (SUA) are unknown. Although most articles are based on selected samples, they suggest a relationship between SUA and malformations. Consequently, prenatal detection of SUA causes concern,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0e336134b4846c33ae78c6696028cbf4
https://pubmed.ncbi.nlm.nih.gov/17194323
https://pubmed.ncbi.nlm.nih.gov/17194323