Zobrazeno 1 - 10
of 28
pro vyhledávání: '"James Skare"'
Autor:
Aubrey Milunsky, Vijay S. Tonk, Peter Osella, Bai-Lin Wu, James Skare, B R Haddad, Herman E. Wyandt
Publikováno v:
Clinical Genetics. 48:151-155
A 4-month-old child with multiple anomalies was determined to have an interstitial deletion of chromosome 15, i.e., del(15) (q12q14). The deletion appears not to be a typical deletion of 15q12 such as seen in Angelman and Prader-Willi syndromes, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b111d39bbca2a4a31d659e40599fd894
https://doi.org/10.1111/j.1399-0004.1995.tb04076.x
https://doi.org/10.1111/j.1399-0004.1995.tb04076.x
Publikováno v:
Clinical Genetics. 39:6-12
A new transthyretin variant which lost an Sph I cleavage site within exon 3 has been characterized. A 260 bp sequence containing exon 3 was amplified using the polymerase chain reaction, and the variant was found to possess a Bsm I cleavage site not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3b9c6c063bb773fc871f5632eb44d1b
https://doi.org/10.1111/j.1399-0004.1991.tb02979.x
https://doi.org/10.1111/j.1399-0004.1991.tb02979.x
Autor:
Catherine E. Costello, Roger Théberge, James Skare, Lawreen H. Connors, Martha Skinner, Rodney H. Falk
Publikováno v:
Amyloid. 6:114-118
The detection and characterization of a new transthyretin (ATTR) variant, Ser2 sn, associated with car-diomyopathy in a Portuguese patient with familial amyloidosis is described Isoelectric focusing (IEF) of serum from the propositus demonstrated het
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aecf10f2f78c470321fded48f7ff666b
https://doi.org/10.3109/13506129909007311
https://doi.org/10.3109/13506129909007311
Publikováno v:
Analytical Chemistry. 71:452-459
A mass spectrometry approach for the detection and identification of variants of the plasma protein transthyretin (TTR) is presented. The single amino acid substitutions found in TTR are closely associated with familial transthyretin amyloidosis (ATT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f591d0f44e675e41b450273e9c00c6e3
https://doi.org/10.1021/ac980531u
https://doi.org/10.1021/ac980531u
Autor:
Herman E. Wyandt, James Skare, Jen-Wei Jiang, Gwynneth D. Offner, Aubrey Milunsky, Bai-Lin Wu, Robert F. Troxler
Publikováno v:
Human Genetics. 92:563-566
Heart fatty acid binding protein (hFABP) is an abundant 14-kDa cytosolic protein thought to be involved in trafficking of fatty acids from the plasma membrane to sites of beta-oxidation in mitochondria and peroxisomes and to the endoplasmic reticulum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ec97ec402eadb67686bc4381a8d545
https://doi.org/10.1007/bf00420939
https://doi.org/10.1007/bf00420939
Autor:
Lucy G. Andrews, James McCarty, David Scharnhorst, Jack R. Davis, David T. Purtilo, Helen L. Grierson, Timothy Blecha, James Skare, Rebert McGregor, Sara J. Israels, Steve Erdman, Joseph A. Church, Teresa Silberman, Angela Obringer, Nathan Kobrinsky
Publikováno v:
American Journal of Medical Genetics. 47:458-463
The Epstein-Barr virus (EBV)-induced diseases of males with X-linked lymphoproliferative disease (XLP) include fatal infectious mononucleosis (IM), non-Hodgkin lymphoma (ML), agammaglobulinemia, and aplastic anemia. These phenotypes also occur as spo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a288a6e789513ea2e2f1e6f2085fc583
https://doi.org/10.1002/ajmg.1320470404
https://doi.org/10.1002/ajmg.1320470404
Autor:
James Skare, Bai-Lin Wu, Giovanni Porta, Aubrey Milunsky, David R. Nelson, David Schlessinger, B.J. Schmeckpeper
Publikováno v:
Genomics. 17:163-170
Fluorescence in situ hybridization (FISH) was employed in high-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. The map includes the DXS42, DXS12, DXS6, DXS982, DXS739, DXS75, DXS100, DXS10, and DXS177 loci. Met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1753e9815ca497cc1b77f580f43ea4f5
https://doi.org/10.1006/geno.1993.1298
https://doi.org/10.1006/geno.1993.1298
Autor:
Martha Skinner, Jennifer A. Harding, Ilze B. Skare, Lee Anna Jones, Aubrey Milunsky, Alan S. Cohen, James Skare
Publikováno v:
Ophthalmology. 99:503-508
An inherited type of amyloidosis was suspected in an individual of Italian descent who presented with vitreous opacities. Although no family history of amyloidosis was apparent, the patient's transthyretin gene was examined and found not to possess a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2dfd1583b74ddb371ccdb8dcfeef5d79
https://doi.org/10.1016/s0161-6420(92)31949-9
https://doi.org/10.1016/s0161-6420(92)31949-9
Publikováno v:
American Journal of Medical Genetics. 40:280-283
We report clinical and cytogenetic findings on a 24-year-old woman with short stature, irregular menses, and other anomalies suggestive of Ullrich-Turner syndrome (UTS). Chromosome analysis documented a de novo duplication of Xp21 without any apparen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a4f4a03a9f2cd38a99bc87fd8993dfa
https://doi.org/10.1002/ajmg.1320400306
https://doi.org/10.1002/ajmg.1320400306
Publikováno v:
American Journal of Medical Genetics. 40:294-297
Patients with X-linked lymphoproliferative (XLP) disease are characterized by extreme vulnerability to Epstein-Barr virus (EBV). Following infection with EBV, affected males develop fatal infectious mononucleosis (IM), hypogammaglobulinemia (H), or n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f632c980c2aed99d5f09f4d1c995d530
https://doi.org/10.1002/ajmg.1320400309
https://doi.org/10.1002/ajmg.1320400309