Search Results - "Puck, J.M."

T-B-NK+ Severe Combined Immunodeficiency (SCID) Identified by Statewide Newborn Screening by Thomas, A, Baker, M.W, Yannone, S.M, Cowan, M.J, Puck, J.M, Gatti, R.A, Byrom, A.R, Verbsky, J.W, Routes, J.M, De Santes, K.B, Gern, J.E, Seroogy, C.M

“…T-cell receptor excision circle (TREC) analysis was performed by QPCR on newborn filter cards. Other analyses included flow cytometry, Western blot, gene…”
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Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1 by Mamcarz, Ewelina, Zhou, Sheng, Lockey, Timothy, Abdelsamed, Hossam, Cross, Shane J, Kang, Guolian, Ma, Zhijun, Condori, Jose, Dowdy, Jola, Triplett, Brandon, Li, Chen, Maron, Gabriela, Aldave Becerra, Juan C, Church, Joseph A, Dokmeci, Elif, Love, James T, da Matta Ain, Ana C, van der Watt, Hedi, Tang, Xing, Janssen, William, Ryu, Byoung Y, De Ravin, Suk See, Weiss, Mitchell J, Youngblood, Benjamin, Long-Boyle, Janel R, Gottschalk, Stephen, Meagher, Michael M, Malech, Harry L, Puck, Jennifer M, Cowan, Morton J, Sorrentino, Brian P

“…Eight infants with SCID-X1 had multilineage immune reconstitution after autologous hematopoietic stem-cell transplantation of marrow stem cells transfected…”
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Gene localization and syntenic mapping by FISH in the dog by Dutra, A S, Mignot, E, Puck, J M

“…To begin development of a canine gene map and to define syntenic regions between the canine and human genomes, the technique of fluorescence in situ…”
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Report of the committee on the genetic constitution of the X chromosome by Mandel, J L, Willard, H F, Nussbaum, R L, Romeo, G, Puck, J M, Davies, K E

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Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency by Deschênes, S M, Puck, J M, Dutra, A S, Somberg, R L, Felsburg, P J, Henthorn, P S

“…Parallel genetic analysis of animal and human genetic diseases can facilitate the identification and characterization of the causative gene defects. For…”
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Peripheral Naive B-Cell Phenotype in X-Linked Severe Combined Immunodeficiency (XSCID) Patients with Hypogammaglobulinemia After Bone Marrow Transplantation by Chinen, J., Moratto, D., Kirby, M.R., Linton, G.F., Malech, H.L., Puck, J.M.

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Ex vivo gene therapy of two children with X-linked severe combined immunodeficiency by Chinen, J., Davis, J., Linton, G.F., Theobald-Whitting, N.L., Woltz, P.C., Buckley, R.H., Malech, H.L., Puck, J.M.

“…Bone marrow transplantation (BMT) for XSCID is not fully satisfactory because most patients lack an HLA-matched relative and receive HLA-haploidentical BMTs,…”
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Skeletal anomalies in hyper-IgE recurrent infection syndrome (HIES, Job syndrome) by Chinen, J., Davis, J., Darnell, D., Hay, B., Hill, S., Holland, S.M., Puck, J.M.

“…Hyper-IgE syndrome (HIES, Job syndrome) is characterized by a triad of elevated IgE, skin abscesses and cyst-forming pneumonia. Non-immunological…”
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Molecular and genetic basis of X-linked immunodeficiency disorders by PUCK, J. M

“…Within a short time interval the specific gene defects causing three X-linked human immunodeficiencies, agammaglobulinemia (XLA), hyper-IgM syndrome (HIGM),…”
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828 Deficiency of janus kinase 3 (Jak3) protein in severe combined immunodeficiency (SCID) by Roberts, J.L., O'Shea, J.J., Puck, J.M., Buckley, R.H.

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Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13 by Puck, J M, Conley, M E, Bailey, L C

“…The most common form of human severe combined immunodeficiency (SCID) is inherited as an X-linked recessive genetic defect, MIM 300400. The disease locus,…”
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Twelve new polymorphic microsatellites on human chromosome 22 by Porter, J C, Ram, K T, Puck, J M

“…A strategy directed at constructing polymorphic STSs from human chromosome 22 has yielded 15 poly(TG) microsatellite markers. A short insert plasmid library…”
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A high-frequency RFLP at the human TFE3 locus on the X chromosome by Puck, J M, Stewart, C C, Henthorn, P S

“…Images…”
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Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34 by Jänne, P A, Dutra, A S, Dracopoli, N C, Charnas, L R, Puck, J M, Nussbaum, R L

“…The 75-kDa (type II) inositol polyphosphate-5-phosphatase, originally described in platelets, is one of at least three known enzymes capable of…”
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