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Hematopoietic stem cells are acutely sensitive to Acd shelterin gene inactivation.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 1, p. 353, doi. 10.1172/JCI67871
By:
- Jones, Morgan;
- Osawa, Gail;
- Regal, Joshua A.;
- Taggart, James;
- Kocak, Hande;
- Friedman, Ann;
- Ferguson, David O.;
- Keegan, Catherine E.;
- Maillard, Ivan
Publication type:
Article
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 2, p. 260, doi. 10.1002/ajmg.c.31560
By:
- Byers, Heather M.;
- Mohnach, Lauren H.;
- Fechner, Patricia Y.;
- Chen, Ming;
- Thomas, Inas H.;
- Ramsdell, Linda A.;
- Shnorhavorian, Margarett;
- McCauley, Elizabeth A.;
- Amies Oelschlager, Anne‐Marie E.;
- Park, John M.;
- Sandberg, David E.;
- Adam, Margaret P.;
- Keegan, Catherine E.
Publication type:
Article
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 2, p. 253, doi. 10.1002/ajmg.c.31559
By:
- Granados, Andrea;
- Alaniz, Veronica I.;
- Mohnach, Lauren;
- Barseghyan, Hayk;
- Vilain, Eric;
- Ostrer, Harry;
- Quint, Elisabeth H.;
- Chen, Ming;
- Keegan, Catherine E.
Publication type:
Article
Isodicentric Y Mosaicism Involving a 46, XX Cell Line: Implications for Management.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 233, doi. 10.1002/ajmg.a.37403
By:
- Hipp, Lauren E.;
- Mohnach, Lauren H.;
- Wei, Sainan;
- Thomas, Inas H.;
- Elhassan, Maha E.;
- Sandberg, David E.;
- Quint, Elisabeth H.;
- Keegan, Catherine E.
Publication type:
Article
9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1882, doi. 10.1002/ajmg.a.36018
By:
- Quinonez, Shane C.;
- Park, John M.;
- Rabah, Raja;
- OwENs, Kailey M.;
- Yashar, Beverly M.;
- Glover, Thomas W.;
- Keegan, Catherine E.
Publication type:
Article
Analysis of De Novo HOXA 13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1019, doi. 10.1002/ajmg.a.35843
By:
- Owens, Kailey M.;
- Quinonez, Shane C.;
- Thomas, Peedikayil E.;
- Keegan, Catherine E.;
- Lefebvre, Nanci;
- Roulston, Diane;
- Larsen, Christine A.;
- Stadler, H. Scott;
- Innis, Jeffrey W.
Publication type:
Article
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability.
Published in:
Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00104
By:
- Vallianatos, Christina N.;
- Farrehi, Clara;
- Friez, Michael J.;
- Burmeister, Margit;
- Keegan, Catherine E.;
- Iwase, Shigeki
Publication type:
Article
Corrigendum: Telomere protection by mammalian Pot1 requires interaction with Tpp1.
Published in:
2009
By:
- Hockemeyer, Dirk;
- Palm, Wilhelm;
- Else, Tobias;
- Daniels, Jan-Peter;
- Takai, Kaori K.;
- Ye, Jeffrey Z.-S.;
- Keegan, Catherine E.;
- de Lange, Titia;
- Hammer, Gary D.
Publication type:
Correction Notice
Telomere protection by mammalian Pot1 requires interaction with Tpp1.
Published in:
Nature Structural & Molecular Biology, 2007, v. 14, n. 8, p. 754, doi. 10.1038/nsmb1270
By:
- Hockemeyer, Dirk;
- Palm, Wilhelm;
- Else, Tobias;
- Daniels, Jan-Peter;
- Takai, Kaori K.;
- Ye, Jeffrey Z.-S.;
- Keegan, Catherine E.;
- de Lange, Titia;
- Hammer, Gary D.
Publication type:
Article
Aged PROP1 Deficient Dwarf Mice Maintain ACTH Production.
Published in:
PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028355
By:
- Nasonkin, Igor O.;
- Ward, Robert D.;
- Bavers, David L.;
- Beuschlein, Felix;
- Mortensen, Amanda H.;
- Keegan, Catherine E.;
- Hammer, Gary D.;
- Camper, Sally A.
Publication type:
Article
An Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 15, p. 4408, doi. 10.3390/jcm11154408
By:
- Sack, Bryan S.;
- Speck, K. Elizabeth;
- Hryhorczuk, Anastasia L.;
- Sandberg, David E.;
- Kraft, Kate H.;
- Ralls, Matthew W.;
- Keegan, Catherine E.;
- Quint, Elisabeth H.;
- Dendrinos, Melina L.
Publication type:
Article
Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.
Published in:
Life Science Alliance, 2022, v. 5, n. 1, p. 1, doi. 10.26508/lsa.202101208
By:
- Graniel, Jacqueline V.;
- Bisht, Kamlesh;
- Friedman, Ann;
- White, James;
- Perkey, Eric;
- Vanderbeck, Ashley;
- Moroz, Alina;
- Carrington, Léolène J.;
- Brandstadter, Joshua D.;
- Allen, Frederick;
- Shami, Adrienne Niederriter;
- Thomas, Peedikayil;
- Crayton, Aniela;
- Manzor, Mariel;
- Mychalowych, Anna;
- Chase, Jennifer;
- Hammoud, Saher S.;
- Keegan, Catherine E.;
- Maillard, Ivan;
- Nandakumar, Jayakrishnan
Publication type:
Article
Author Correction: Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation.
Published in:
2020
By:
- Vallianatos, Christina N.;
- Raines, Brynne;
- Porter, Robert S.;
- Bonefas, Katherine M.;
- Wu, Michael C.;
- Garay, Patricia M.;
- Collette, Katie M.;
- Seo, Young Ah;
- Dou, Yali;
- Keegan, Catherine E.;
- Tronson, Natalie C.;
- Iwase, Shigeki
Publication type:
Correction Notice
Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation.
Published in:
Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-1001-6
By:
- Vallianatos, Christina N.;
- Raines, Brynne;
- Porter, Robert S.;
- Bonefas, Katherine M.;
- Wu, Michael C.;
- Garay, Patricia M.;
- Collette, Katie M.;
- Seo, Young Ah;
- Dou, Yali;
- Keegan, Catherine E.;
- Tronson, Natalie C.;
- Iwase, Shigeki
Publication type:
Article
The shelterin complex and hematopoiesis.
Published in:
Journal of Clinical Investigation, 2016, v. 126, n. 5, p. 1621, doi. 10.1172/JCI84547
By:
- Jones, Morgan;
- Bisht, Kamlesh;
- Savage, Sharon A.;
- Nandakumar, Jayakrishnan;
- Keegan, Catherine E.;
- Maillard, Ivan
Publication type:
Article
Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics.
Published in:
2018
By:
- Timmermans, Stefan;
- Yang, Ashelee;
- Gardner, Melissa;
- Keegan, Catherine E.;
- Yashar, Beverly M.;
- Fechner, Patricia Y.;
- Shnorhavorian, Margarett;
- Vilain, Eric;
- Siminoff, Laura A.;
- Sandberg, David E.
Publication type:
journal article
Interstitial lung disease of infancy caused by a new NKX2-1 mutation.
Published in:
Clinical Case Reports, 2017, v. 5, n. 6, p. 739, doi. 10.1002/ccr3.901
By:
- Safi, Khalid H.;
- Bernat, John A.;
- Keegan, Catherine E;
- Ahmad, Ayesha;
- Hershenson, Marc B.;
- Arteta, Manuel
Publication type:
Article
Gender destinies: assigning gender in Disorders of Sex Development‐Intersex clinics.
Published in:
Sociology of Health & Illness, 2019, v. 41, n. 8, p. 1520, doi. 10.1111/1467-9566.12974
By:
- Timmermans, Stefan;
- Yang, Ashelee;
- Gardner, Melissa;
- Keegan, Catherine E.;
- Yashar, Beverly M.;
- Fechner, Patricia Y.;
- Shnorhavorian, Margarett;
- Vilain, Eric;
- Siminoff, Laura A.;
- Sandberg, David E.
Publication type:
Article
Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 5, p. 736, doi. 10.1093/hmg/ddy378
By:
- Orchard, Peter;
- White, James S;
- Thomas, Peedikayil E;
- Mychalowych, Anna;
- Kiseleva, Anya;
- Hensley, John;
- Allen, Benjamin;
- Parker, Stephen C J;
- Keegan, Catherine E
Publication type:
Article
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 3, p. 597, doi. 10.1093/hmg/ddv499
By:
- Srivastava, Anshika;
- Ritesh, K. C.;
- Yao-Chang Tsan;
- Liao, Rosy;
- Fengyun Su;
- Xuhong Cao;
- Hannibal, Mark C.;
- Keegan, Catherine E.;
- Chinnaiyan, Arul M.;
- Martin, Donna M.;
- Bielas, Stephanie L.
Publication type:
Article
Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 38, doi. 10.1002/ajmg.a.33757
By:
- Vlangos, Christopher N.;
- Siuniak, Amanda;
- Ackley, Todd;
- van Bokhoven, Hans;
- Veltman, Joris;
- Iyer, Ram;
- Park, John M.;
- Keppler-Noreuil, Kim;
- Keegan, Catherine E.
Publication type:
Article
Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression.
Published in:
PLoS Genetics, 2013, v. 9, n. 2, p. 1, doi. 10.1371/journal.pgen.1003205
By:
- Vlangos, Christopher N.;
- Siuniak, Amanda N.;
- Robinson, Dan;
- Chinnaiyan, Arul M.;
- Lyons Jr., Robert H.;
- Cavalcoli, James D.;
- Keegan, Catherine E.
Publication type:
Article
Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 1, p. 113, doi. 10.1093/hmg/ddi011
By:
- Keegan, Catherine E.;
- Hutz, Janna E.;
- Else, Tobias;
- Adamska, Maja;
- Shah, Sonalee P.;
- Kent, Amy E.;
- Howes, John M.;
- Beamer, Wesley G.;
- Hammer, Gary D.
Publication type:
Article
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.
Published in:
Clinical Endocrinology, 2007, v. 67, n. 2, p. 168, doi. 10.1111/j.1365-2265.2007.02855.x
By:
- Keegan, Catherine E.;
- Hutz, Janna E.;
- Krause, Andrea S.;
- Koehler, Katrin;
- Metherell, Louise A.;
- Boikos, Sosipatros;
- Stergiopoulos, Sotirios;
- Clark, Adrian J. L.;
- Stratakis, Constantine A.;
- Huebner, Angela;
- Hammer, Gary D.
Publication type:
Article

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