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Catherine Keegan
Catherine Keegan
在 umich.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
WA Paznekas, SA Boyadjiev, RE Shapiro, O Daniels, B Wollnik, ...
The American Journal of Human Genetics 72 (2), 408-418, 2003
7282003
Telomere protection by mammalian Pot1 requires interaction with Tpp1
D Hockemeyer, W Palm, T Else, JP Daniels, KK Takai, JZS Ye, ...
Nature structural & molecular biology 14 (8), 754-761, 2007
2722007
Recent insights into organogenesis of the adrenal cortex
CE Keegan, GD Hammer
Trends in Endocrinology & Metabolism 13 (5), 200-208, 2002
2452002
Exome sequencing for the diagnosis of 46, XY disorders of sex development
RM Baxter, VA Arboleda, H Lee, H Barseghyan, MP Adam, PY Fechner, ...
The Journal of Clinical Endocrinology & Metabolism 100 (2), E333-E344, 2015
2282015
Microduplications of 22q11. 2 are frequently inherited and are associated with variable phenotypes
Z Ou, JS Berg, H Yonath, VB Enciso, DT Miller, J Picker, T Lenzi, ...
Genetics in Medicine 10 (4), 267-277, 2008
2142008
Telomere protection by TPP1 is mediated by POT1a and POT1b
T Kibe, GA Osawa, CE Keegan, T de Lange
Molecular and cellular biology 30 (4), 1059-1066, 2010
1662010
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ...
JCI insight 1 (9), 2016
1642016
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1
H Kocak, BJ Ballew, K Bisht, R Eggebeen, BD Hicks, S Suman, A O’Neil, ...
Genes & development 28 (19), 2090-2102, 2014
1432014
Differential expression of corticotropin-releasing hormone in developing mouse embryos and adult brain
CE Keegan, JP Herman, IJ Karolyi, KS O'Shea, SA Camper, AF Seasholtz
Endocrinology 134 (6), 2547-2555, 1994
1391994
TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ...
The American Journal of Human Genetics 97 (6), 922-932, 2015
1282015
Steroidogenic factor-1 is essential for compensatory adrenal growth following unilateral adrenalectomy
F Beuschlein, C Mutch, DL Bavers, YM Ulrich-Lai, WC Engeland, ...
Endocrinology 143 (8), 3122-3135, 2002
1282002
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome
A Srivastava, KC Ritesh, YC Tsan, R Liao, F Su, X Cao, MC Hannibal, ...
Human molecular genetics 25 (3), 597-608, 2016
842016
Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review
K Keppler‐Noreuil, S Gorton, F Foo, J Yankowitz, C Keegan
American Journal of Medical Genetics Part A 143 (18), 2122-2128, 2007
812007
Implementing transgenic and embryonic stem cell technology to study gene expression, cell-cell interactions and gene function
SA Camper, TL Saunders, SK Kendall, RA Keri, AF Seasholtz, DF Gordon, ...
Biology of reproduction 52 (2), 246-257, 1995
761995
The lived experience of MRKH: sharing health information with peers
ME Ernst, DE Sandberg, C Keegan, EH Quint, AC Lossie, BM Yashar
Journal of pediatric and adolescent gynecology 29 (2), 154-158, 2016
732016
Urogenital and caudal dysgenesis in adrenocortical dysplasia ( acd ) mice is caused by a splicing mutation in a novel telomeric regulator
CE Keegan, JE Hutz, T Else, M Adamska, SP Shah, AE Kent, JM Howes, ...
Human molecular genetics 14 (1), 113-123, 2005
732005
Does patient-centered care change genital surgery decisions? The strategic use of clinical uncertainty in disorders of sex development clinics
S Timmermans, A Yang, M Gardner, CE Keegan, BM Yashar, PY Fechner, ...
Journal of Health and Social Behavior 59 (4), 520-535, 2018
702018
Identification of critical regions for clinical features of distal 10q deletion syndrome
SA Yatsenko, MC Kruer, PI Bader, D Corzo, J Schuette, CE Keegan, ...
Clinical genetics 76 (1), 54-62, 2009
692009
Genetics of disorders of sex development: the DSD-TRN experience
EC Délot, JC Papp, M Fox, W Grody, H Lee, E Vilain, C Keegan, ...
Endocrinology and Metabolism Clinics 46 (2), 519-537, 2017
652017
Altered gene-regulatory function of KDM5C by a novel mutation associated with autism and intellectual disability
CN Vallianatos, C Farrehi, MJ Friez, M Burmeister, CE Keegan, S Iwase
Frontiers in molecular neuroscience 11, 104, 2018
552018
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