Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Lisa H. Gibson"'
Autor:
Lisa H. Gibson, Jui-Der Liou, Hua Su, Yen-Ying Ma, Teresa L. Yang-Feng, Yun-Fai Chris Lau, Nancy J. Charest
Publikováno v:
American Journal of Medical Genetics. 70:134-137
Here we describe the first reported case of a patient with a familial paracentric inversion in the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y chromosome YACs demonstrated that the inversion breakpoints of the patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb90b39e21175d737022f477e4fdb4ce
https://doi.org/10.1002/(sici)1096-8628(19970516)70:2<134::aid-ajmg6>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970516)70:2<134::aid-ajmg6>3.0.co
Publikováno v:
American Journal of Medical Genetics. 68:417-420
A newborn infant with multiple congenital anomalies was diagnosed with an unbalanced translocation of chromosomes 1 and 5. Studies of parental chromosomes revealed a complex rearrangement in the patient's mother involving the exchange of terminal lon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1272236ab2ffe808521477480e17ac7
https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<417::aid-ajmg9>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<417::aid-ajmg9>3.0.co
Autor:
Richard G. Boles, James L. McGrath, Drucilla J. Roberts, Lisa H. Gibson, Teresa L. Yang-Feng, Barbara R. Pober, Charla R. Willis
Publikováno v:
American Journal of Medical Genetics. 55:155-160
We describe a newborn boy with multiple anomalies, including bilateral split foot and an interstitial deletion of chromosome 2 (q24.2-q31.1). Four additional cases in 2 families involving similar deletions have been reported. Bilateral digital anomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ab8e753d87aa6aa9691bffba625723
https://doi.org/10.1002/ajmg.1320550204
https://doi.org/10.1002/ajmg.1320550204
Publikováno v:
American Journal of Medical Genetics. 52:92-96
An infant girl with manifestations resembling Opitz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosome abnormality with t(13;18)(q22;q23) and a recombinant chromosome 13 involving duplicated segments of 13q. Pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49521d765a83a15e42b87a2a39fa95e
https://doi.org/10.1002/ajmg.1320520118
https://doi.org/10.1002/ajmg.1320520118
Publikováno v:
American Journal of Medical Genetics. 46:288-292
We report on 2 girls with terminal deletion of the short arm of chromosome 9 with concurrent duplication unrecognizable by routine chromosome studies. The phenotype of the patients was not specifically suggestive of the 9p– syndrome in the absence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa0fffc952a3bb5e368f648d530b834e
https://doi.org/10.1002/ajmg.1320460310
https://doi.org/10.1002/ajmg.1320460310
Publikováno v:
American Journal of Medical Genetics. 75:75-77
We studied a familial dup(5q) present in a phenotypically normal father and his monozygotic twin daughters with different abnormal phenotypes. High-resolution chromosome analysis suggested that the duplicated segment was of region q15-21, which seems
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d90aa7e7c957cde0169cb3663f0080f1
https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<75::aid-ajmg15>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<75::aid-ajmg15>3.0.co
Autor:
Joann Inserra, Margretta R. Seashore, Shuan-pei Lin, Lisa H. Gibson, Teresa L. Yang-Feng, Elizabeth M. Petty
Publikováno v:
American Journal of Medical Genetics. 44:500-502
We describe a male twin with the smallest terminal deletion of chromosome 2q [46,XY,del(2)(q37.2)] reported to date. His deletion was confirmed by a fluorescence in situ hybridization study using a probe from the deleted region. Only 3 other cases wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95eab1b2fdf04694d7ca687c0bd9b86c
https://doi.org/10.1002/ajmg.1320440424
https://doi.org/10.1002/ajmg.1320440424
Publikováno v:
Cancer Genetics and Cytogenetics. 54:129-131
Monosomy for chromosome 5 or a portion of the long arm is a common finding in acute nonlymphocytic leukemia (ANLL) and myelodysplastic syndrome (MDS), especially when the disorder is therapy related [1, 2]. If only a portion of chromosome 5 is missin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5060d2913caa9f207150df473fc48766
https://doi.org/10.1016/0165-4608(91)90041-r
https://doi.org/10.1016/0165-4608(91)90041-r
Autor:
Teresa L. Yang-Feng, Peter M. Glazer, Edward J. Gunther, Eric G. Leach, Lisa H. Gibson, Toni M. Yeasky
Publikováno v:
Mutagenesis. 11(1)
Transgenic mice carrying multiple copies of a recoverable lambda phage shuttle vector (lambda supF) were constructed for the purpose of studying mutagenesis in a whole animal. Spontaneous mutations in rescued supF target genes from several different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef93c8f097e459f7ae0294bfbbf774e3
https://pubmed.ncbi.nlm.nih.gov/8671715
https://pubmed.ncbi.nlm.nih.gov/8671715
A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation
Publikováno v:
Human genetics. 96(5)
A satellited long arm of the Y chromosome (Yqs) is considered a normal variation, whereas the presence of a satellite on the short arm of the Y (Yps) has never been described in the literature. A Yps chromosome could be clinically significant if the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37d0c82649ae15e5c854c6a7412a5c3
https://pubmed.ncbi.nlm.nih.gov/8530007
https://pubmed.ncbi.nlm.nih.gov/8530007