Search Results - "Hughes, Mark R."

Outcomes of preimplantation genetic diagnosis in neurofibromatosis type 1 by Merker, Vanessa L., B.S, Murphy, Timothy P, Hughes, J. Bryan, B.A, Muzikansky, Alona, M.A, Hughes, Mark R., M.D., Ph.D, Souter, Irene, M.D, Plotkin, Scott R., M.D., Ph.D

“…Objective To examine the effect of patient and facility level factors on the success of preimplantation genetic diagnosis (PGD) in patients with…”
Get full text

Birth of a Normal Girl after in Vitro Fertilization and Preimplantation Diagnostic Testing for Cystic Fibrosis by Handyside, Alan H, Lesko, John G, Tarín, Juan J, Winston, Robert M.L, Hughes, Mark R

“…PRENATAL diagnosis of inherited disease currently involves sampling cells of fetal origin by amniocentesis in the second trimester of pregnancy, or…”
Get full text

Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1 by Chong, Samuel S, McCall, Alanna E, Cota, Juan, Subramony, S.H, Orr, Harry T, Hughes, Mark R, Zoghbi, Huda Y

“…Spinocerebellar ataxia type 1 is associated with expansion of an unstable CAG repeat within the SCA1 gene. Male gametic heterogeneity of the expanded repeat is…”
Get full text

Reconstruction of ooplasm recipient oocytes with frozen-thawed donor microcytoplasts and influence on the microtubular spindle by Goud, Anuradha P., Ph.D, Goud, Pravin T., M.D., Ph.D, Diamond, Michael P., M.D, Gonik, Bernard, M.D, Dozortsev, Dmitri I., M.D., Ph.D, Hughes, Mark R., M.D., Ph.D

“…Objective(s) To cryopreserve micromanipulated ooplast segments (microcytoplasts) from mouse oocytes, compare microcytoplast and parent or recipient oocyte…”
Get full text

Increased bone mass is an unexpected phenotype associated with deletion of the calcitonin gene by Hoff, Ana O, Catala-Lehnen, Philip, Thomas, Pamela M, Priemel, Matthias, Rueger, Johannes M, Nasonkin, Igor, Bradley, Allan, Hughes, Mark R, Ordonez, Nelson, Cote, Gilbert J, Amling, Michael, Gagel, Robert F

“…Calcitonin (CT) is a known inhibitor of bone resorption. Calcitonin gene-related peptide-alpha (CGRPalpha), produced by alternative RNA processing of the…”
Get full text

Avoiding Transmitting Identified Mutations to Offspring Using Preimplantation Genetic Diagnosis by Smith, Laura P., Hughes, Mark R., Thirumoorthi, Ilango, Proud, Virginia K., Penzias, Alan S.

“…Preimplantation genetic diagnosis has been used to decrease or avoid the risk of transmitting identified mutations to offspring. A 29-year-old woman with…”
Get full text

Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA‐matched donor by Bielorai, Bella, Hughes, Mark R., Auerbach, Arleen D., Nagler, Arnon, Loewenthal, Ron, Rechavi, Gideon, Toren, Amos

“…Fanconi anemia is a rare autosomal recessive disease characterized by bone marrow failure, developmental anomalies, and a high incidence of myelodysplasia and…”
Get full text

The impact of CAG repeats in exon 1 of the androgen receptor on disease progression after prostatectomy by Powell, Isaac J., Land, Susan J., Dey, Jyotirmoy, Heilbrun, Lance K., Hughes, Mark R., Sakr, Wael, Everson, Richard B.

“…BACKGROUND The authors examined the impact of the number of CAG repeats in exon 1 of the androgen receptor on disease progression among men with prostate…”
Get full text

First Unaffected Pregnancy Using Preimplantation Genetic Diagnosis for Sickle Cell Anemia by Xu, Kangpu, Shi, Zhong Ming, Veeck, Lucinda L, Hughes, Mark R, Rosenwaks, Zev

“…CONTEXT Sickle cell anemia is a common autosomal recessive disorder. However, preimplantation genetic diagnosis (PGD) for this severe genetic disorder…”
Get full text

Genetic testing of embryos: a critical need for data by Baruch, Susannah, Adamson, G David, Cohen, Jacques, Gibbons, William E, Hughes, Mark R, Kuliev, Anver, Munné, Santiago, Rebar, Robert W, Simpson, Joe Leigh, Verlinsky, Yury, Hudson, Kathy L

“…Preimplantation genetic diagnosis (PGD), the genetic testing of embryos developed through IVF is one of the fastest growing techniques in reproductive medicine…”
Get full text

Vitamin D receptor gene polymorphisms and disease free survival after radical prostatectomy by Williams, Heinric, Powell, Isaac J., Land, Susan J., Sakr, Wael A., Hughes, Mark R., Patel, Nimesh P., Heilbrun, Lance K., Everson, Richard B.

“…BACKGROUND Vitamin D has been linked with prostate cancer risk in epidemiologic studies and has antiproliferative, prodifferentiation, and antimetastatic…”
Get full text

Single-cell DNA and FISH analysis for application to preimplantation genetic diagnosis by Chong, Samuel S, Gore-Langton, Robert E, Hughes, Mark R, Weremowicz, Stanislawa

“…Preimplantation genetic testing, which includes preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS), is a form of a very early…”
Get more information

Development of a 950-gene DNA array for examining gene expression patterns in mouse testis by Rockett, J C, Christopher Luft, J, Brian Garges, J, Krawetz, S A, Hughes, M R, Hee Kirn, K, Oudes, A J, Dix, D J

“…Over the past five years, interest in and use of DNA array technology has increased dramatically, and there has been a surge in demand for different types of…”
Get full text

Point Mutations in the Human Vitamin D Receptor Gene Associated with Hypocalcemic Rickets by Hughes, Mark R., Malloy, Peter J., Kieback, Dirk G., Kesterson, Robert A., Pike, J. Wesley, Feldman, David, O'Malley, Bert W.

“…Hypocalcemic vitamin D--resistant rickets is a human genetic disease resulting from target organ resistance to the action of 1,25-dihydroxyvitamin D$_{3}$. Two…”
Get full text

Cellular Therapy for Fanconi Anemia: The Past, Present, and Future by MacMillan, Margaret L, Hughes, Mark R, Agarwal, Suneet, Daley, George Q

“…Allogeneic hematopoietic cell transplantation (HCT) remains the only proven curative therapy for the hematologic manifestation of Fanconi anemia (FA). Over the…”
Get full text

Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences by Chong, S S, Kristjansson, K, Cota, J, Handyside, A H, Hughes, M R

“…In vitro fertilization (IVF), blastomere biopsy of the 6-8 cell embryo, and single cell DNA diagnosis allows couples at risk of transmitting an X-linked or…”
Get more information

Phemx, a Novel Mouse Gene Expressed in Hematopoietic Cells Maps to the Imprinted Cluster on Distal Chromosome 7 by Nicholson, Rhonda H., Pantano, Serafino, Eliason, James F., Galy, Anne, Weiler, Sarah, Kaplan, Joseph, Hughes, Mark R., Ko, Minoru S.H.

“…Phemx (Pan hematopoietic expression) is a novel murine gene expressed in developmentally regulated sites of hematopoiesis from early in embryogenesis through…”
Get full text

Terminal Restriction Fragment Length Polymorphism monitoring of genes amplified directly from bacterial communities in soils and sediments by BRUCE, Kenneth D, HUGHES, Mark R

“…Terminal Restriction Fragment Length Polymorphism (T-RFLP) or Fluorescent Polymerase Chain Reaction/Restriction Fragment Length Polymorphism (FluRFLP) have…”
Get full text

Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification by Kristjansson, Kristleifur, Chong, Samuel S, Van den Veyver, Ignatia B, Subramanian, Stephanie, Snabes, Michael C, Hughes, Mark R

“…Primer extension preamplification (PEP) increases the scope and capacity of single cell genetic diagnosis by generating sufficient template to perform multiple…”
Get full text

Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23 by Chong, S S, Kristjansson, K, Zoghbi, H Y, Hughes, M R

“…Resorption of phosphate by the kidney is an important function in the maintenance of phosphate homeostasis in mammals, and a defect in renal phosphate uptake…”
Get more information