Zobrazeno 1 - 10
of 22
pro vyhledávání: '"A. M. V. Duncan"'
Complete DiGeorge Anomaly in the Absence of Neonatal Hypocalcemia and Velofacial and Cardiac Defects
Autor:
Pedro Albuquerque, Nada Jabado, Alessandra M. V. Duncan, Christine McCusker, David Mitchell, Salem Al-Tamemi, Bruce Mazer
Publikováno v:
Pediatrics. 116:e457-e460
We report an atypical case of complete DiGeorge (DG) anomaly that presented initially exclusively as severe combined immunodeficiency (SCID). The child had severe infections at diagnosis, in keeping with the SCID phenotype; however, normal lymphocyte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2767ee3a4cc203e25e8c9580e918dc71
https://doi.org/10.1542/peds.2005-0371
https://doi.org/10.1542/peds.2005-0371
Publikováno v:
Prenatal Diagnosis. 25:318-321
Objective To report fragility at 10q23.3 in a fetus exposed to phenytoin during pregnancy. Review of the literature. Methods Amniocytes were cultured in A10 (WISENT) culture medium. Molecular polymorphism studies of MTHFR gene using PCR were performe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac57cf5680b7c2f740466802fa39cbc6
https://doi.org/10.1002/pd.1134
https://doi.org/10.1002/pd.1134
Publikováno v:
Journal of Medical Genetics. 38:76-79
Editor—Dicentric autosomes are rarely encountered as stable constitutional chromosomes in humans, with the exception of Robertsonian translocations. The presence of two alpha satellite sequences on the same chromosome leads to a high risk of attach
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06068386f29fc696a61bfc34b461df0
https://doi.org/10.1136/jmg.38.1.76
https://doi.org/10.1136/jmg.38.1.76
Publikováno v:
American Journal of Medical Genetics. 98:64-69
The highly polymorphic human DXS16 locus on Xp22 contains a BglII restriction fragment length polymorphism with 33% heterozygosity. We report that methylation of the HpaII site, 3.1 kb away from this restriction fragment length polymorphism, correlat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc95514150e71f82ce3570df40eb594b
https://doi.org/10.1002/1096-8628(20010101)98:1<64::aid-ajmg1001>3.0.co
https://doi.org/10.1002/1096-8628(20010101)98:1<64::aid-ajmg1001>3.0.co
Autor:
Vazken M. Der Kaloustian, Emmanuelle Lemyre, Muna Al-Saffar, Alessandra M. V. Duncan, Robert K. Koenekoop
Publikováno v:
American Journal of Medical Genetics. 94:428-432
We present the case of a 7-month-old girl with the karyotype 46,XX, der(13) t(2;13)(p23;p11.2).ish der(13)(wcp2+) de novo. Painting confirmed that the additional segment on 13p was of chromosome 2 origin, resulting in trisomy 2p23 -->2pter. The child
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88a119d3ba80d1ba5c934e99a400754d
https://doi.org/10.1002/1096-8628(20001023)94:5<428::aid-ajmg16>3.0.co
https://doi.org/10.1002/1096-8628(20001023)94:5<428::aid-ajmg16>3.0.co
Autor:
Roderick R. McInnes, Rahim Ladak, Hui Sun, David Valle, Deborah A. Swanson, Shunbin Xu, Elizabeth Garami, Lynda Ploder, Alessandra M. V. Duncan, Danka Vidgen, Anna Soltyk
Publikováno v:
Journal of Biological Chemistry. 274:35676-35685
We cloned human and murine cDNAs of a gene (designated PHR1), expressed preferentially in retina and brain. In both species, PHR1 utilizes two promoters and alternative splicing to produce four PHR1 transcripts, encoding isoforms of 243, 224, 208, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::500c07dfb7242d04d3d8792243849dae
https://doi.org/10.1074/jbc.274.50.35676
https://doi.org/10.1074/jbc.274.50.35676
Publikováno v:
Prenatal diagnosis. 30(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e793976eb9c782174fd44bff6e0e898a
https://pubmed.ncbi.nlm.nih.gov/20661896
https://pubmed.ncbi.nlm.nih.gov/20661896
Autor:
Caroline E. Grant, Kurt C. Almquist, Gabu Bhardwaj, Alistair J. Stewart, J. E. Mackie, Susan P.C. Cole, Roger G. Deeley, A. M. V. Duncan, James H. Gerlach, Ebba U. Kurz
Publikováno v:
Science. 258:1650-1654
The doxorubicin-selected lung cancer cell line H69AR is resistant to many chemotherapeutic agents. However, like most tumor samples from individuals with this disease, it does not overexpress P-glycoprotein, a transmembrane transport protein that is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a18f763eb41bf8e9467f5a6d8d9e6534
https://doi.org/10.1126/science.1360704
https://doi.org/10.1126/science.1360704
Autor:
Avi Ashkenazi, A. M. V. Duncan, Richard Rozmahel, Brian F. O'Dowd, G. Mengod, S. J. Peroutka, J. M. Palacios, Yilli Yang, Hui Jin, D. Oksenberg
Publikováno v:
Scopus-Elsevier
We report the cloning of a human gene encoding the 5-hydroxytryptamine1B receptor. The receptor has the characteristics of a G-protein-linked receptor and is most homologous to the human 5-HT1D receptor. This human 5-HT receptor gene, most abundantly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9e48623d87fb3ee3be1c833e241e85f
https://doi.org/10.1016/s0021-9258(18)42612-9
https://doi.org/10.1016/s0021-9258(18)42612-9
Autor:
June Ortenberg, Patrice Eydoux, Kelly A. Collins, Kenneth Silver, Vazken M. Der Kaloustian, Alessandra M. V. Duncan
Publikováno v:
American Journal of Medical Genetics. 91:345-347
We report on a 5-year-old girl with multiple congenital anomalies, developmental delay, and a de novo unbalanced translocation between chromosomes X and 1[46,X,der(X)-t(X;1)(q24;q31.1)] resulting in partial trisomy 1q and partial monosomy Xq. The kar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87e8a4f63ffb25293cbcc84e9f0ad974
https://doi.org/10.1002/(sici)1096-8628(20000424)91:5<345::aid-ajmg4>3.0.co
https://doi.org/10.1002/(sici)1096-8628(20000424)91:5<345::aid-ajmg4>3.0.co