Family study of the inheritance of pectus excavatum
Creswick, Heather A., Stacey, Michael W., Kelly, Robert E., Gustin, Tina, Nuss, Donald, Harvey, Helen, Goretsky, Michael J., Vasser, Ellen, Welch, J. Camille, Mitchell, Karen, Proud, Virginia K.
Published in Journal of pediatric surgery (01.10.2006)
Published in Journal of pediatric surgery (01.10.2006)
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Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8
Toydemir, Reha M., Chen, Harold, Proud, Virginia K., Martin, Rick, van Bokhoven, Hans, Hamel, Ben C. J., Tuerlings, Joep H., Stratakis, Constantine A., Jorde, Lynn B., Bamshad, Michael J.
Published in American journal of medical genetics. Part A (15.11.2006)
Published in American journal of medical genetics. Part A (15.11.2006)
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Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
Tompson, Stuart W., Bacino, Carlos A., Safina, Nicole P., Bober, Michael B., Proud, Virginia K., Funari, Tara, Wangler, Michael F., Nevarez, Lisette, Ala-Kokko, Leena, Wilcox, William R., Eyre, David R., Krakow, Deborah, Cohn, Daniel H.
Published in American journal of human genetics (12.11.2010)
Published in American journal of human genetics (12.11.2010)
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
Kato, Mitsuhiro, Das, Soma, Petras, Kristin, Kitamura, Kunio, Morohashi, Ken-ichirou, Abuelo, Diane N., Barr, Mason, Bonneau, Dominique, Brady, Angela F., Carpenter, Nancy J., Cipero, Karen L., Frisone, Francesco, Fukuda, Takayuki, Guerrini, Renzo, Iida, Eri, Itoh, Masayuki, Lewanda, Amy Feldman, Nanba, Yukiko, Oka, Akira, Proud, Virginia K., Saugier-Veber, Pascale, Schelley, Susan L., Selicorni, Angelo, Shaner, Rachel, Silengo, Margherita, Stewart, Fiona, Sugiyama, Noriyuki, Toyama, Jun, Toutain, Annick, Vargas, Ana Lía, Yanazawa, Masako, Zackai, Elaine H., Dobyns, William B.
Published in Human mutation (01.02.2004)
Published in Human mutation (01.02.2004)
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Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)
Weaver, David D., Norby, Audrey R., Rosenfeld, Jill A., Proud, Virginia K., Spangler, Brooke E., Ming, Jeffrey E., Chisholm, Elizabeth, Zackai, Elaine H., Lee, Beom Hee, Edelmann, Lisa, Desnick, Robert J.
Published in American journal of medical genetics. Part A (01.05.2015)
Published in American journal of medical genetics. Part A (01.05.2015)
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Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia
Offit, Kenneth, Levran, Orna, Mullaney, Brian, Mah, Katherine, Nafa, Khedoudja, Batish, Sat Dev, Diotti, Raffaella, Schneider, Hildegard, Deffenbaugh, Amie, Scholl, Thomas, Proud, Virginia K., Robson, Mark, Norton, Larry, Ellis, Nathan, Hanenberg, Helmut, Auerbach, Arleen D.
Published in JNCI : Journal of the National Cancer Institute (15.10.2003)
Published in JNCI : Journal of the National Cancer Institute (15.10.2003)
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Classification of the dysmorphology of pectus excavatum
Cartoski, Mark J., Nuss, Donald, Goretsky, Michael J., Proud, Virginia K., Croitoru, Daniel P., Gustin, Tina, Mitchell, Karen, Vasser, Ellen, Kelly, Robert E.
Published in Journal of pediatric surgery (01.09.2006)
Published in Journal of pediatric surgery (01.09.2006)
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Hardikar syndrome: New features
Poley, J. Rainer, Proud, Virginia K.
Published in American journal of medical genetics. Part A (01.10.2008)
Published in American journal of medical genetics. Part A (01.10.2008)
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Journal Article
Advancing our understanding of the inheritance and transmission of pectus excavatum
Horth, Lisa, Stacey, Michael W., Proud, Virginia K., Segna, Kara, Rutherford, Chelsea, Nuss, Donald, Kelly, Robert E.
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2012)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2012)
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Additional EFNB1 mutations in craniofrontonasal syndrome
Wallis, Deeann, Lacbawan, Felicitas, Jain, Mahim, Der Kaloustian, Vazken M., Steiner, Carlos E., Moeschler, John B., Losken, H. Wolfgang, Kaitila, Ilkka I., Cantrell, Stephen, Proud, Virginia K., Carey, John C., Day, Donald W., Lev, Dorit, Teebi, Ahmad S., Robinson, Luther K., Hoyme, H. Eugene, Al-Torki, Nadia, Siegel-Bartelt, Jacqueline, Mulliken, John B., Robin, Nathaniel H., Saavedra, Dolores, Zackai, Elaine H., Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.08.2008)
Published in American journal of medical genetics. Part A (01.08.2008)
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Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
Rauen, Katherine A., Hefner, Erin, Carrillo, Kristin, Taylor, Jill, Messier, Laure, Aoki, Yoko, Gripp, Karen W., Matsubara, Yoichi, Proud, Virginia K., Hammond, Peter, Allanson, Judith E., Delrue, Marie-Ange, Axelrad, Marni E., Lin, Angela E., Doyle, Daniel A., Kerr, Bronwyn, Carey, John C., McCormick, Frank, Silva, Alcino J., Kieran, Mark W., Hinek, Aleksander, Nguyen, Tan T., Schoyer, Lisa
Published in American journal of medical genetics. Part A (01.05.2008)
Published in American journal of medical genetics. Part A (01.05.2008)
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Conference Proceeding
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
Kaler, Stephen G, Gallo, Linda K, Proud, Virginia K, Percy, Alan K, Mark, Yvonne, Segal, Neil A, Goldstein, David S, Holmes, Courtney S, Gahl, William A
Published in Nature genetics (01.10.1994)
Published in Nature genetics (01.10.1994)
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Molecular Genetic Studies of Human Chromosome 7 in Russell–Silver Syndrome
Nakabayashi, Kazuhiko, Fernandez, Bridget A., Teshima, Ikuko, Shuman, Cheryl, Proud, Virginia K., Curry, Cynthia J., Chitayat, David, Grebe, Theresa, Ming, Jeffrey, Oshimura, Mitsuo, Meguro, Makiko, Mitsuya, Kohzoh, Deb-Rinker, Paromita, Herbrick, Jo-Anne, Weksberg, Rosanna, Scherer, Stephen W.
Published in Genomics (San Diego, Calif.) (01.02.2002)
Published in Genomics (San Diego, Calif.) (01.02.2002)
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Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features
MILLER, Stephen F, PROUD, Virginia K, WERNER, Alice L, FIELD, Fiona M, WILCOX, William F, LACHMAN, Ralph S, RIMOIN, David L
Published in Pediatric radiology (01.04.2003)
Published in Pediatric radiology (01.04.2003)
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Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics
Alford, Raye L, Friedman, Thomas B, Keats, Bronya J B, Kimberling, William J, Proud, Virginia K, Smith, Richard J H, Arnos, Kathleen S, Korf, Bruce R, Rehm, Heidi L, Toriello, Helga V
Published in Genetics in medicine (01.07.2003)
Published in Genetics in medicine (01.07.2003)
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Clinical Findings in Four Children with Biotinidase Deficiency Detected through a Statewide Neonatal Screening Program
Wolf, Barry, Heard, Gregory S, Jefferson, Linda G, Proud, Virginia K, Nance, Walter E, Weissbecker, Karen A
Published in The New England journal of medicine (04.07.1985)
Published in The New England journal of medicine (04.07.1985)
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Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects
Surka, W S, Kohlhase, J, Neunert, C E, Schneider, D S, Proud, V K
Published in American journal of medical genetics (15.08.2001)
Published in American journal of medical genetics (15.08.2001)
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Journal Article
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation
Bassett, L L, Michaelis, R C, Geiger, M H, Tarleton, J, Moore, C L, Knops, J F, Carroll, A J, Proud, V K
Published in American journal of medical genetics (15.04.2001)
Published in American journal of medical genetics (15.04.2001)
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