An Overview of Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency

Por Keegan, Catherine E., Killeen, Anthony A.
Publicado em 2001

Citrullinemia Type I and Hypertrophic Pyloric Stenosis in a 1-Month Old Male Infant

Por Rhee, Yoona, Heaton, Todd, Keegan, Catherine, Ahmad, Ayesha
Publicado em 2013

Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype

Por O’Connor, Bridget C., Macke, Erica L., Keegan, Catherine E.
Publicado em 2011

Telomere Protection by TPP1 Is Mediated by POT1a and POT1b

Por Kibe, Tatsuya, Osawa, Gail A., Keegan, Catherine E., de Lange, Titia
Publicado em 2010

A novel FGD1 mutation in a family with Aarskog–Scott syndrome and predominant features of congenital joint contractures

Por Griffin, Laurie Beth, Farley, Frances A., Antonellis, Anthony, Keegan, Catherine E.
Publicado no Cold Spring Harb Mol Case Stud (2016)

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes

Por Reutter, Heiko, Keppler-Noreuil, Kim, E. Keegan, Catherine, Thiele, Holger, Yamada, Gen, Ludwig, Michael
Publicado no Curr Genomics (2016)

The shelterin complex and hematopoiesis

Por Jones, Morgan, Bisht, Kamlesh, Savage, Sharon A., Nandakumar, Jayakrishnan, Keegan, Catherine E., Maillard, Ivan
Publicado no J Clin Invest (2016)

Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis

Por Vlangos, Christopher N., O’Connor, Bridget C., Morley, Madeleine J., Krause, Andrea S., Osawa, Gail A., Keegan, Catherine E.
Publicado em 2009

Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression

Por Vlangos, Christopher N., Siuniak, Amanda N., Robinson, Dan, Chinnaiyan, Arul M., Lyons, Robert H., Cavalcoli, James D., Keegan, Catherine E.
Publicado em 2013

Isodicentric Y Mosaicism Involving a 46, XX Cell Line: Implications for Management

Por Hipp, Lauren E., Mohnach, Lauren, Wei, Sainan, Thomas, Inas H., Elhassan, Maha, Sandberg, David E., Quint, Elisabeth H., Keegan, Catherine E.
Publicado no Am J Med Genet A (2015)

Aged PROP1 Deficient Dwarf Mice Maintain ACTH Production

Por Nasonkin, Igor O., Ward, Robert D., Bavers, David L., Beuschlein, Felix, Mortensen, Amanda H., Keegan, Catherine E., Hammer, Gary D., Camper, Sally A.
Publicado em 2011

Genome-wide analysis of the human <it>Alu </it>Yb-lineage

Por Carter Anthony B, Salem Abdel-Halim, Hedges Dale J, Keegan Catherine, Kimball Beth, Walker Jerilyn A, Watkins W, Jorde Lynn B, Batzer Mark A
Publicado em 2004-03-01

Hematopoietic stem cells are acutely sensitive to Acd shelterin gene inactivation

Por Jones, Morgan, Osawa, Gail, Regal, Joshua A., Weinberg, Daniel N., Taggart, James, Kocak, Hande, Friedman, Ann, Ferguson, David O., Keegan, Catherine E., Maillard, Ivan
Publicado em 2013

Genome-wide analysis of the human Alu Yb-lineage

Por Carter, Anthony B, Salem, Abdel-Halim, Hedges, Dale J, Keegan, Catherine Nguyen, Kimball, Beth, Walker, Jerilyn A, Watkins, W Scott, Jorde, Lynn B, Batzer, Mark A
Publicado em 2004

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome

Por Srivastava, Anshika, Ritesh, K.C., Tsan, Yao-Chang, Liao, Rosy, Su, Fengyun, Cao, Xuhong, Hannibal, Mark C., Keegan, Catherine E., Chinnaiyan, Arul M., Martin, Donna M., Bielas, Stephanie L.
Publicado no Hum Mol Genet (2016)

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

Por Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang
Publicado em 2003

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

Por Kocak, Hande, Ballew, Bari J., Bisht, Kamlesh, Eggebeen, Rebecca, Hicks, Belynda D., Suman, Shalabh, O’Neil, Adri, Giri, Neelam, Maillard, Ivan, Alter, Blanche P., Keegan, Catherine E., Nandakumar, Jayakrishnan, Savage, Sharon A.
Publicado em 2014

The Role of Molecular Testing and Enzyme Analysis in the Management of Hypomorphic Citrullinemia

Por Dimmock, David P., Trapane, Pamela, Feigenbaum, Annette, Keegan, Catherine E., Cederbaum, Stephen, Gibson, James, Gambello, Michael J., Vaux, Keith, Ward, Patricia, Rice, Gregory M., Wolff, Jon A, O’Brien, William E., Fang, Ping
Publicado em 2008

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

Por Baxter, Ruth M., Arboleda, Valerie A., Lee, Hane, Barseghyan, Hayk, Adam, Margaret P., Fechner, Patricia Y., Bargman, Renee, Keegan, Catherine, Travers, Sharon, Schelley, Susan, Hudgins, Louanne, Mathew, Revi P., Stalker, Heather J., Zori, Roberto, Gordon, Ora K., Ramos-Platt, Leigh, Pawlikowska-Haddal, Anna, Eskin, Ascia, Nelson, Stanley F., Délot, Emmanuèle, Vilain, Eric
Publicado no J Clin Endocrinol Metab (2015)

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Por O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Publicado no Am J Hum Genet (2015)