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Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.
Published in:
1989
By:
- McConkie-Rosell, Allyn;
- Chen, Yuan-Tsong;
- Harris, Denise;
- Speer, Marcy C.;
- Pericak-Vance, Margaret A.;
- Ding, Jia-Huan;
- Highsmith Jr., Edward;
- Knowles, Michael;
- Kahler, Stephen G.;
- McConkie-Rosell, A;
- Chen, Y T;
- Harris, D;
- Speer, M C;
- Pericak-Vance, M A;
- Ding, J H;
- Highsmith, W E Jr;
- Knowles, M;
- Kahler, S G
Publication type:
journal article
Rapid publication: Flanking markers define the X-linked hypophosphatemic rickets gene locus.
Published in:
Journal of Bone & Mineral Research, 1993, v. 8, n. 9, p. 1149, doi. 10.1002/jbmr.5650080916
By:
- Econs, Michael J.;
- Fain, Pamela R.;
- Norman, Michael;
- Speer, Marcy C.;
- Pericak-Vance, Margaret A.;
- Becker, Peggy A.;
- Barker, David F.;
- Taylor, Arlene;
- Drezner, Marc K.
Publication type:
Article
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Published in:
Nature Genetics, 2005, v. 37, n. 3, p. 289, doi. 10.1038/ng1514
By:
- Züchner, Stephan;
- Noureddine, Maher;
- Kennerson, Marina;
- Verhoeven, Kristien;
- Claeys, Kristl;
- De Jonghe, Peter;
- Merory, John;
- Oliveira, Sofia A.;
- Speer, Marcy C.;
- Stenger, Judith E.;
- Walizada, Gina;
- Danqing Zhu;
- Pericak-Vance, Margaret A.;
- Nicholson, Garth;
- Timmerman, Vincent;
- Vance, Jeffery M.
Publication type:
Article
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
Published in:
Nature Genetics, 2000, v. 26, n. 3, p. 345, doi. 10.1038/81664
By:
- White, Kenneth E.;
- Evans, Wayne E.;
- O'Riordan, Jeffery L.H.;
- Speer, Marcy C.;
- Econs, Michael J.;
- Lorenz-Depiereux, Bettina;
- Grabowski, Monika;
- Meitinger, Thomas;
- Strom, Tim M.
Publication type:
Article
Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy.
Published in:
Prenatal Diagnosis, 1988, v. 8, n. 6, p. 427, doi. 10.1002/pd.1970080607
By:
- Speer, Marcy C.;
- Pericak-Vance, Margaret A.;
- Yamaoka, Larry H.;
- Koh, James;
- Hung, Wu-Yen;
- Gaskell, Peter C.;
- Vance, Jeffery M.;
- Bartlett, Richard J.;
- Roses, Allen D.
Publication type:
Article
A PHEX Gene Mutation Is Responsible for Adult-Onset Vitamin D-Resistant Hypophosphatemic Osteomalacia: Evidence That the Disorder Is Not a Distinct Entity from X-Linked Hypophosphatemic Rickets.
Published in:
Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 10, p. 3459, doi. 10.1210/jcem.83.10.5167
By:
- ECONS, MICHAEL J.;
- FRIEDMAN, NANCY E.;
- ROWE, PETER S. N.;
- SPEER, MARCY C.;
- FRANCIS, FIONA;
- STROM, TIM M.;
- OUDET, CLAUDINE;
- SMITH, JOHN A.;
- NINOMIYA, JAMES T.;
- LEE, BENJAMIN E.;
- BERGEN, HEATHER
Publication type:
Article
SNPs in the neural cell adhesion molecule 1 gene ( NCAM1) may be associated with human neural tube defects.
Published in:
Human Genetics, 2005, v. 117, n. 2/3, p. 133, doi. 10.1007/s00439-005-1299-7
By:
- Deak, Kristen L.;
- Boyles, Abee L.;
- Etchevers, Heather C.;
- Melvin, Elizabeth C.;
- Siegel, Deborah G.;
- Graham, Felicia L.;
- Slifer, Susan H.;
- Enterline, David S.;
- George, Timothy M.;
- Vekemans, Michel;
- McClay, David;
- Bassuk, Alexander G.;
- Kessler, John A.;
- Linney, Elwood;
- Gilbert, John R.;
- Speer, Marcy C.
Publication type:
Article
Speaking the Language of Genetics: A Primer
Published in:
Journal of Midwifery & Women's Health, 2005, v. 50, n. 3, p. 184, doi. 10.1016/j.jmwh.2005.02.004
By:
- Wolpert, Chantelle M.;
- Singer, Margaret L.;
- Speer, Marcy C.
Publication type:
Article
Harnessing the Power of the Pedigree
Published in:
Journal of Midwifery & Women's Health, 2005, v. 50, n. 3, p. 189, doi. 10.1016/j.jmwh.2005.02.003
By:
- Wolpert, Chantelle M.;
- Speer, Marcy C.
Publication type:
Article
Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene-Gene and Gene-Environment Interactions.
Published in:
Environmental Health Perspectives, 2006, v. 114, n. 10, p. 1547, doi. 10.1289/ehp.9166
By:
- Boyles, Abee L.;
- Billups, Ashley V.;
- Deak, Kristen L.;
- Siegel, Deborah G.;
- Mehltretter, Lorraine;
- Slifer, Susan H.;
- Bassuk, Alexander G.;
- Kessler, John A.;
- Reed, Michael C.;
- Nijhout, H. Frederik;
- George, Timothy M.;
- Enterline, David S.;
- Gilbert, John R.;
- Speer, Marcy C.
Publication type:
Article
Chiari Type I Malformation With or Without Syringomyelia: Prevalence and Genetics.
Published in:
Journal of Genetic Counseling, 2003, v. 12, n. 4, p. 297, doi. 10.1023/A:1023948921381
By:
- Speer, Marcy C.;
- Enterline, David S.;
- Mehltretter, Lorraine;
- Hammock, Preston;
- Joseph, Judith;
- Dickerson, Margaret;
- Ellenbogen, Richard G.;
- Milhorat, Thomas H.;
- Hauser, Michael A.;
- George, Timothy M.
Publication type:
Article
Folic acid and the prevention of neural tube defects: A position paper of the national society of genetic counselors.
Published in:
Journal of Genetic Counseling, 1996, v. 5, n. 3, p. 139, doi. 10.1007/BF01408658
By:
- Baty, Bonnie Jeanne;
- Cohen, Leslie;
- Phelps, Lorna;
- Speer, Marcy C.;
- Stengel, Pamela;
- Williamson‐Kruse, Lori
Publication type:
Article
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
Published in:
Nature Communications, 2013, v. 4, n. 6, p. 1952, doi. 10.1038/ncomms2952
By:
- Horstick, Eric J.;
- Linsley, Jeremy W.;
- Dowling, James J.;
- Hauser, Michael A.;
- McDonald, Kristin K.;
- Ashley-Koch, Allison;
- Saint-Amant, Louis;
- Satish, Akhila;
- Cui, Wilson W.;
- Zhou, Weibin;
- Sprague, Shawn M.;
- Stamm, Demetra S.;
- Powell, Cynthia M.;
- Speer, Marcy C.;
- Franzini-Armstrong, Clara;
- Hirata, Hiromi;
- Kuwada, John Y.
Publication type:
Article
Gene expression profiling of familial and sporadic interstitial pneumonia.
Published in:
2007
By:
- Yang IV;
- Burch LH;
- Steele MP;
- Savov JD;
- Hollingsworth JW;
- McElvania-Tekippe E;
- Berman KG;
- Speer MC;
- Sporn TA;
- Brown KK;
- Schwarz MI;
- Schwartz DA;
- Yang, Ivana V;
- Burch, Lauranell H;
- Steele, Mark P;
- Savov, Jordan D;
- Hollingsworth, John W;
- McElvania-Tekippe, Erin;
- Berman, Katherine G;
- Speer, Marcy C
Publication type:
journal article
Gene Expression Profiling of Familial and Sporadic Interstitial Pneumonia.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2007, v. 175, n. 1, p. 45, doi. 10.1164/rccm.200601-062OC
By:
- Yang, Ivana V.;
- Burch, Lauranell H.;
- Steele, Mark P.;
- Savoy, Jordan D.;
- Hollingsworth, John W.;
- McEIvania-Tekippe, Erin;
- Berman, Katherine G.;
- Speer, Marcy C.;
- Sporn, Thomas A.;
- Brown, Kevin K.;
- Schwarz, Marvin I.;
- Schwartz, David A.
Publication type:
Article
Clinical and Pathologic Features of Familial Interstitial Pneumonia.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2005, v. 172, n. 9, p. 1146, doi. 10.1164/rccm.200408-1104OC
By:
- Steele, Mark P.;
- Speer, Marcy C.;
- Loyd, James E.;
- Brown, Kevin K.;
- Herron, Aretha;
- Slifer, Susan H.;
- Burch, Lauranell H.;
- Wahidi, Momen M.;
- Phillips III, John A.;
- Sporn, Thomas A.;
- McAdams, H. Page;
- Schwarz, Marvin I.;
- Schwartz, David A.
Publication type:
Article
Clinical and pathologic features of familial interstitial pneumonia.
Published in:
2005
By:
- Steele MP;
- Speer MC;
- Loyd JE;
- Brown KK;
- Herron A;
- Slifer SH;
- Burch LH;
- Wahidi MM;
- Phillips JA III;
- Sporn TA;
- McAdams HP;
- Schwarz MI;
- Schwartz DA;
- Steele, Mark P;
- Speer, Marcy C;
- Loyd, James E;
- Brown, Kevin K;
- Herron, Aretha;
- Slifer, Susan H;
- Burch, Lauranell H
Publication type:
journal article
The role of genetics and cigarette smoking in the development of pulmonary fibrosis.
Published in:
Respirology, 2006, v. 11, p. S23, doi. 10.1111/j.1440-1843.2006.00802.x
By:
- Steele, Mark P.;
- Speer, Marcy C.;
- Loyd, Jim C.;
- Brown, Kevin K.;
- Herron, Aretha;
- Slifer, Susan H.;
- Burch, Lauranell H.;
- Wahidi, Momen;
- Phillips, John A.;
- Sporn, Thomas A.;
- McAdams, Holman P.;
- Schwarz, Marvin I.;
- Schwartz, David A.
Publication type:
Article
Human neural crest cells display molecular and phenotypic hallmarks of stem cells.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 21, p. 3411, doi. 10.1093/hmg/ddn235
By:
- Thomas, Sophie;
- Thomas, Marie;
- Wincker, Patrick;
- Babarit, Candice;
- Xu, Puting;
- Speer, Marcy C.;
- Munnich, Arnold;
- Lyonnet, Stanislas;
- Vekemans, Michel;
- Etchevers, Heather C.
Publication type:
Article
Life After the Screen: Making Sense of Many P-Values.
Published in:
Genetic Epidemiology, 2001, v. 21, p. S546, doi. 10.1002/gepi.2001.21.s1.s546
By:
- Schmidt, Silke;
- Shao, Yujun;
- Hauser, Elizabeth R.;
- Slifer, Susan H.;
- Martin, Eden R.;
- Scott, William K.;
- Speer, Marcy C.;
- Pericak-Vance, Margaret A.
Publication type:
Article
False positive rates in a genomic screen for complex quantitative traits.
Published in:
Genetic Epidemiology, 1997, v. 14, n. 6, p. 891, doi. 10.1002/(SICI)1098-2272(1997)14:6<891::AID-GEPI55>3.0.CO;2-H
By:
- Scott, William K.;
- Speer, Marcy C.;
- Leal, Suzanne M.;
- Brzustowicz, Linda M.;
- Haynes, Carol S.;
- Pericak-Vance, Margaret A.
Publication type:
Article
GAW10: Simulated family data for a common oligogenic disease with quantitative risk factors.
Published in:
Genetic Epidemiology, 1997, v. 14, n. 6, p. 737, doi. 10.1002/(SICI)1098-2272(1997)14:6<737::AID-GEPI29>3.0.CO;2-Q
By:
- MacCluer, Jean W.;
- Blangero, John;
- Dyer, Thomas D.;
- Speer, Marcy C.
Publication type:
Article
Data simulation for GAW9 problems 1 and 2.
Published in:
Genetic Epidemiology, 1995, v. 12, n. 6, p. 561, doi. 10.1002/gepi.1370120606
By:
- Speer, Marcy C.;
- Terwilliger, Joseph D.;
- Ott, Jurg
Publication type:
Article
Linkage Disequilibrium Inflates Type I Error Rates in Multipoint Linkage Analysis when Parental Genotypes Are Missing.
Published in:
Human Heredity, 2005, v. 59, n. 4, p. 220, doi. 10.1159/000087122
By:
- Boyles, Abee L.;
- Scott, William K.;
- Martin, Eden R.;
- Schmidt, Silke;
- Yi-Ju Li;
- Ashley-Koch, Allison;
- Bass, Meredyth P.;
- Schmidt, Michael;
- Pericak-Vance, Margaret A.;
- Speer, Marcy C.;
- Hauser, Elizabeth R.
Publication type:
Article
Additional Glomangioma Families Link to Chromosome 1p: No Evidence for Genetic Heterogeneity.
Published in:
Human Heredity, 2001, v. 51, n. 3, p. 180, doi. 10.1159/000053340
By:
- Calvert, Jennifer T.;
- Burns, Shannon;
- Riney, Travis J.;
- Sahoo, Trilochan;
- Orlow, Seth J.;
- Nevin, Norman C.;
- Haisley-Royster, Camille;
- Prose, Neil;
- Simpson, Sheila A.;
- Speer, Marcy C.;
- Marchuk, Douglas A.
Publication type:
Article
CA Repeat Polymorphism of theCOL6A3 Gene on Chromosome 2 q37.
Published in:
Human Heredity, 1998, v. 48, n. 4, p. 235, doi. 10.1159/000022808
By:
- Pan, Te-Cheng;
- Zhang, Rui-Zhu;
- Speer, Marcy C.;
- Chu, Mon-Li
Publication type:
Article
Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families.
Published in:
Human Heredity, 1998, v. 48, n. 4, p. 179, doi. 10.1159/000022799
By:
- Speer, Marcy C.;
- Vance, Jeffery M.;
- Lennon-Graham, Felicia;
- Stajich, Jeffrey M.;
- Viles, Kristi D.;
- Gilchrist, James M.;
- Nigro, Vincenzo;
- McMichael, Robert;
- Chutkow, Jerry G.;
- Bartoloni, Lucia;
- Horrigan, Steven K.;
- Westbrook, Carol A.;
- Pericak-Vance, Margaret A.
Publication type:
Article
Allelic and locus heterogeneity in inherited venous malformations.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 7, p. 1279, doi. 10.1093/hmg/8.7.1279
By:
- Calvert, Jennifer T.;
- Riney, Travis J.;
- Kontos, Christopher D.;
- Cha, Eugene H.;
- Prieto, Victor G.;
- Shea, Christopher R.;
- Berg, Jonathan N.;
- Nevin, Norman C.;
- Simpson, Sheila A.;
- Pasyk, Krystyna A.;
- Speer, Marcy C.;
- Peters, Kevin G.;
- Marchuk, Douglas A.
Publication type:
Article
Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene ( COL6A3) in a family with Bethlem myopathy.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 5, p. 807, doi. 10.1093/hmg/7.5.807
By:
- Pan, Te‐Cheng;
- Zhang, Rui‐Zhu;
- Pericak‐Vance, Margaret A.;
- Tandan, Rup;
- Fries, Timothy;
- Stajich, Jeffrey M.;
- Viles, Kristi;
- Vance, Jeffery M.;
- Chu, Mon‐Li;
- Speer, Marcy C.
Publication type:
Article
Evidence for Locus Heterogeneity in the Bethlem Myopathy and Linkage to 2q37.
Published in:
Human Molecular Genetics, 1996, v. 5, n. 7, p. 1043, doi. 10.1093/hmg/5.7.1043
By:
- Speer, Marcy C.;
- Tandan, Rup;
- Rao, Nagesh P.;
- Fries, Timothy;
- Stajich, Jeffrey M.;
- Bolhuis, Pieter A.;
- Jöbsis, G. Joost;
- Vance, Jeffery M.;
- Viles, Kristi D.;
- Sheffield, Karen;
- James, Christi;
- Kahler, Stephen G.;
- Pettenati, Mark;
- Gilbert, John R.;
- Denton, Peter H.;
- Yamaoka, Larry H.;
- Pericak-Vance, Margaret A.
Publication type:
Article
Folate metabolism genes, dietary folate and response to antidepressant medications in late-life depression.
Published in:
International Journal of Geriatric Psychiatry, 2013, v. 28, n. 9, p. 925, doi. 10.1002/gps.3899
By:
- Jamerson, Brenda D.;
- Payne, Martha E.;
- Garrett, Melanie E.;
- Ashley‐Koch, Allison E.;
- Speer, Marcy C.;
- Steffens, David C.
Publication type:
Article

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