Zobrazeno 1 - 10
of 35
pro vyhledávání: '"J, Gabarrón"'
Publikováno v:
Clinical Genetics. 28:509-515
A patient with multiple congenital anomalies suggestive of the "Cat eye" syndrome was found to have an extra marker bisatellited chromosome 22 derived from a maternal Y/22 translocation, identified by multiple banding patterns in cultures treated wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60955d3bc7f4287361a6723788746df7
https://doi.org/10.1111/j.1399-0004.1985.tb00418.x
https://doi.org/10.1111/j.1399-0004.1985.tb00418.x
Autor:
J, Gabarrón, C, Ramos
Publikováno v:
European Journal of Human Genetics. 5:64-69
An overview of the national organisation of prenatal diagnosis (PND) in Spain is presented. Although PND is technically well developed and the number of prenatal services seems to be adequate, the uneven distribution between regions is reflected in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4bf5230b6dd299380714db62bcf1de3
https://doi.org/10.1159/000484820
https://doi.org/10.1159/000484820
Autor:
E. Guillén Navarro, I. Lopez Expósito, M. C. Martinez Romero, R. Domingo Jiménez, C. Mendez Velasco, J. Gabarrón Llamas, F. J. Hernandez Ramón
Publikováno v:
American Journal of Medical Genetics. 62:297-299
We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89edee14568e816c605a2df01867e88a
https://doi.org/10.1002/(sici)1096-8628(19960329)62:3<297::aid-ajmg18>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960329)62:3<297::aid-ajmg18>3.0.co
Autor:
Jordi Rosell, Maria Pia Villa, V. Volpini, P. Carbonell, Francisca Ballesta, Sergi Castellví-Bel, G. Glover, J. Gabarrón, H Kruyer, Xavier Estivill, Montserrat Milà, I. López, Aurora Sánchez
Publikováno v:
Human genetics. 94(4)
The fragile X mental retardation syndrome is caused by an expansion of a trinucleotide repeat (CGG)n in the FMR-1 gene. Molecular genetic study of fragile X provides accurate diagnosis and facilitates genetic counseling in families with affected memb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93f00cf699760fbec047d0d70a498d34
https://pubmed.ncbi.nlm.nih.gov/7927336
https://pubmed.ncbi.nlm.nih.gov/7927336
Autor:
E, Román Ortiz, M, López-Sánchez-Solís de Querol, M D, Peris-Mencheta Ríos-Melida, M, Pajarón de Ahumada, M, Gracian Gómez, J M, Guia Torrent, R, Fernández Parra, I, Martínez-Artero Martínez, J, Gabarrón, F, Salvat Germán
Publikováno v:
Anales espanoles de pediatria. 36(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::62bb1855a1b59988de2a9194a00fc2c3
https://pubmed.ncbi.nlm.nih.gov/1543296
https://pubmed.ncbi.nlm.nih.gov/1543296
Autor:
T, Rodríguez Costa, J, Gabarrón Llamas, C, Casas Fernández, G, Glover López, A, Puche Mira, A, Jiménez Cocina
Publikováno v:
Anales espanoles de pediatria. 21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::92e12161b464de12cd0191d169cbfa19
https://pubmed.ncbi.nlm.nih.gov/6595955
https://pubmed.ncbi.nlm.nih.gov/6595955
Publikováno v:
Clinical genetics. 33(4)
A partial monosomy 6q derived from a de novo 6q (q15q21) deletion, was seen in an infant male with mental retardation, odd facies and feeding difficulties.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4620fe29c0300093a998053b91dc0d9
https://pubmed.ncbi.nlm.nih.gov/3359687
https://pubmed.ncbi.nlm.nih.gov/3359687
Publikováno v:
Clinical genetics. 33(3)
Five families with balanced translocations involving 7p are reported. Three girls from two of these families presented several congenital malformations and partial trisomy 7p. A comparison is made of their phenotype with other reported cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b42cd847aae530733a3dcf42633e572
https://pubmed.ncbi.nlm.nih.gov/3359679
https://pubmed.ncbi.nlm.nih.gov/3359679
Publikováno v:
Human genetics. 76(2)
We report a girl with a de novo interstitial deletion in the long arm of a chromosome 10. Clinical features are described.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02e0e5d45d31c07b53db8faa4c74f47
https://pubmed.ncbi.nlm.nih.gov/3610151
https://pubmed.ncbi.nlm.nih.gov/3610151
Publikováno v:
Obstetrical & Gynecological Survey. 42:523-524
An increased frequency of mitoses showing premature centromere division (PCD) in every chromosome was found in lymphocyte cultures from four members of a subfertile family. These cells were observed in both the presence and absence of colchicine. Cul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a36eac31ed200358828f8d8fd7dfe3c6
https://doi.org/10.1097/00006254-198708000-00018
https://doi.org/10.1097/00006254-198708000-00018