Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Arthur B. Zinn"'
Autor:
Lori Anne P. Schillaci, Gregory M. Enns, Charles L. Hoppel, Renata C. Gallagher, Stephen I. Goodman, Jessica Rispoli-Joines, Shawn E. McCandless, Michael Woontner, Arthur B. Zinn, Elaine B. Spector, Jirair K. Bedoyan, Carol L. Greene, Erin T. Strovel, Gunter Scharer
Publikováno v:
Molecular genetics and metabolism. 119(1-2)
Glutaric aciduria type I (GA-I) is an autosomal recessive organic aciduria resulting from a functional deficiency of glutaryl-CoA dehydrogenase, encoded by GCDH. Two clinically indistinguishable diagnostic subgroups of GA-I are known; low and high ex
Autor:
Thomas C. Chelimsky, Sara Shanske, Mark Cohen, Gisela Chelimsky, Michio Hirano, Kevin McNeeley, Arthur B Zinn
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition. 40:512-517
Autor:
Sara Kaffe, Theresa W. Depinet, Daniel L. Van Dyke, Beth A. Sullivan, Gail H. Vance, Arthur B. Zinn, Gurbax S. Sekhon, Joleen L. Zackowski, William C. Earnshaw, Richard Stallard, Stuart Schwartz, Huntington F. Willard
Publikováno v:
Human Molecular Genetics. 6:1195-1204
Recent studies have implicated alpha-satellite DNA as an integral part of the centromere, important for the normal segregation of human chromosomes. To explore the relationship between the normal functioning centromere and alpha-satellite DNA, we hav
Autor:
Nelson B. Isada, Theresa W. Depinet, Vickie L. Zurcher, Evelyn M. Karson, Richard Stallard, Julie Leana-Cox, Linda M. Pasztor, Joleen L. Zackowski, Daynna J. Wolff, Vicki M. Park, Arthur B. Zinn, Linda C. Sheppard, Stuart Schwartz
Publikováno v:
American Journal of Medical Genetics. 71:1-7
Fluorescence in situ hybridization (FISH) using biotin labeled X- and Y-chromosome DNA probes was utilized in the analysis of 23 sex chromosome-derived markers. Specimens were obtained through prenatal diagnosis, because of a presumptive diagnosis of
Autor:
Peter H. Byers, Mimi Cho, Jeffrey A. Towbin, Arthur B. Zinn, Dianna M. Milewicz, Elizabeth A. Putnam
Publikováno v:
American Journal of Medical Genetics. 62:233-242
Marfan syndrome is a dominantly inherited connective tissue disorder with a wide range of phenotypic severity. The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin-1 protein. While mutations causi
Autor:
Arthur B. Zinn
Publikováno v:
Fanaroff and Martin's Neonatal–Perinatal Medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5605e56750224ebeeb6a1951866f9a6
https://doi.org/10.1016/b978-0-323-06545-0.00059-5
https://doi.org/10.1016/b978-0-323-06545-0.00059-5
Autor:
Jalal M. Abu-Shaweesh, Veronica H. Accornero, Heidelise Als, Brenna L. Anderson, Jacob V. Aranda, James E. Arnold, Sundeep Arora, Komal Bajaj, Jill E. Baley, Eduardo H. Bancalari, Emmalee S. Bandstra, Edward M. Barksdale, Cynthia F. Bearer, Isaac Blickstein, Jeffrey L. Blumer, Samantha Butler, Kara Calkins, Michael S. Caplan, Waldemar A. Carlo, Gisela Chelimsky, Valerie Y. Chock, Walter J. Chwals, Alan R. Cohen, Daniel R. Cooperman, Timothy M. Crombleholme, Mario De Curtis, Linda S. de Vries, Katherine MacRae Dell, Scott Denne, Sherin U. Devaskar, Juliann Di Fiore, Steven M. Donn, Morven S. Edwards, William H. Edwards, Francine Erenberg, Avroy A. Fanaroff, Jonathan M. Fanaroff, Ross Fasano, Orna Flidel-Rimon, Smadar Friedman, Susan E. Gerber, Jay P. Goldsmith, Bernard Gonik, Jeffrey B. Gould, Pierre Gressens, Susan J. Gross, Andrée M. Gruslin, Balaji K. Gupta, Maureen Hack, Louis P. Halamek, Aaron Hamvas, Jonathan Hellmann, Susan R. Hintz, Steven B. Hoath, Jeffrey D. Horbar, McCallum R. Hoyt, Petra S. Hüppi, Lucky Jain, Alan H. Jobe, Nancy E. Judge, Michael Kaplan, Satish C. Kalhan, Reuben Kapur, Ganga Karunamuni, Lawrence M. Kaufman, Kathleen A. Kennedy, John H. Kennell, Joseph A. Kitterman, Marshall H. Klaus, Robert M. Kliegman, Oded Langer, Noam Lazebnik, Malcolm I. Levene, Foong-Yen Lim, Tom Lissauer, Suzanne M. Lopez, Timothy E. Lotze, L.C. Naomi Luban, Lori Luchtman-Jones, David K. Magnuson, Henry H. Mangurten, Jacquelyn McClary, Geoffrey Miller, Marilyn T. Miller, Mohamed W. Mohamed, Thomas R. Moore, Colin J. Morley, Stuart C. Morrison, Anil Narang, Vivek Narendran, Mary L. Nock, Mark R. Palmert, Aditi S. Parikh, Robert L. Parry, Dale L. Phelps, Brenda Poindexter, Richard A. Polin, Bhagya L. Puppala, Tonse N.K. Raju, Ashwin Ramachandrappa, Raymond W. Redline, Jacques Rigo, Barrett K. Robinson, Susan R. Rose, Florence Rothenberg, Shaista Safder, Ola Didrik Saugstad, Katherine S. Schaefer, Mark S. Scher, Gunnar Sedin, Dinesh M. Shah, Eric S. Shinwell, Rayzel M. Shulman, Eric Sibley, Sunil K. Sinha, Carlos J. Sivit, Ernest S. Siwik, Robert C. Sprecher, Robin H. Steinhorn, David K. Stevenson, Eileen K. Stork, John E. Stork, Arjan B. te Pas, George H. Thompson, Philip Toltzis, Robert Turbow, Jon E. Tyson, George F. Van Hare, Maximo Vento, Dharmapuri Vidyasagar, Beth A. Vogt, Betty Vohr, Michele C. Walsh, Michiko Watanabe, Diane K. Wherrett, Robert D. White, Georgia L. Wiesner, Jamie C. Wikenheiser, David B. Wilson, Deanne Wilson-Costello, Richard B. Wolf, Ronald J. Wong, Mervin C. Yoder, Thomas Young, Kenneth G. Zahka, Arthur B. Zinn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8fbde7654b513be97b7827e4a1dfa7d
https://doi.org/10.1016/b978-0-323-06545-0.00003-0
https://doi.org/10.1016/b978-0-323-06545-0.00003-0
Autor:
Arthur B. Zinn, Stephen F. Previs, Roy D. Welch, J. Jay Gargus, Piero Rinaldo, John J. O'Shea, Eberhard Schmidt-Sommerfeld
Publikováno v:
Pediatric Research. 30:216-221
A 9-y-old girl with ethylmalonic/adipic aciduria was hospitalized to determine the possible therapeutic efficacy of oral carnitine and glycine supplementation. To provoke a mild metabolic stress, her diet was supplemented with 440 mg/kg/d of medium-c
Publikováno v:
American Journal of Medical Genetics. 36:444-448
We have observed primary tooth enamel defects in 4 children with hemifacial microsomia. The distribution of enamel defects was concordant with the laterality of craniofacial anomalies in these patients and was most pronounced on the maxillary incisor
Publikováno v:
Pediatric neurology. 32(2)
Uniparental disomy is a genetic cause of disease implicated in a wide variety of neurologic disorders. A recently identified condition is maternal uniparental disomy for chromosome 14 (mUPD14) syndrome. A child with hypotonia and developmental delay