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Items: 1 to 50 of 51

1.

Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.

Orchard P, White JS, Thomas PE, Mychalowych A, Kiseleva A, Hensley J, Allen B, Parker SCJ, Keegan CE.

Hum Mol Genet. 2018 Oct 31. doi: 10.1093/hmg/ddy378. [Epub ahead of print]

PMID:
30380057
2.

Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics.

Timmermans S, Yang A, Gardner M, Keegan CE, Yashar BM, Fechner PY, Shnorhavorian M, Vilain E, Siminoff LA, Sandberg DE.

J Health Soc Behav. 2018 Dec;59(4):520-535. doi: 10.1177/0022146518802460. Epub 2018 Oct 10.

PMID:
30303019
3.

High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype.

Sucularli C, Thomas P, Kocak H, White JS, O'Connor BC, Keegan CE.

Gene. 2018 Dec 30;679:219-231. doi: 10.1016/j.gene.2018.09.002. Epub 2018 Sep 4.

PMID:
30189268
4.

Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability.

Vallianatos CN, Farrehi C, Friez MJ, Burmeister M, Keegan CE, Iwase S.

Front Mol Neurosci. 2018 Apr 4;11:104. doi: 10.3389/fnmol.2018.00104. eCollection 2018.

5.

Interstitial lung disease of infancy caused by a new NKX2-1 mutation.

Safi KH, Bernat JA, Keegan CE, Ahmad A, Hershenson MB, Arteta M.

Clin Case Rep. 2017 Apr 4;5(6):739-743. doi: 10.1002/ccr3.901. eCollection 2017 Jun.

6.

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.

Byers HM, Mohnach LH, Fechner PY, Chen M, Thomas IH, Ramsdell LA, Shnorhavorian M, McCauley EA, Amies Oelschlager AE, Park JM, Sandberg DE, Adam MP, Keegan CE.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):260-267. doi: 10.1002/ajmg.c.31560. Epub 2017 May 25.

7.

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

Granados A, Alaniz VI, Mohnach L, Barseghyan H, Vilain E, Ostrer H, Quint EH, Chen M, Keegan CE.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):253-259. doi: 10.1002/ajmg.c.31559. Epub 2017 May 15.

8.

CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype.

Dixon MW, Stem MS, Schuette JL, Keegan CE, Besirli CG.

Ophthalmic Genet. 2016 Dec;37(4):468-470. Epub 2016 Mar 11. No abstract available.

PMID:
26967979
9.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AH, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB.

JCI Insight. 2016 Jun 16;1(9). pii: e87623.

10.

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

Griffin LB, Farley FA, Antonellis A, Keegan CE.

Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a000943. doi: 10.1101/mcs.a000943.

11.

Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.

Quinonez SC, Seeley AH, Lam C, Glover TW, Barshop BA, Keegan CE.

JIMD Rep. 2017;34:55-61. doi: 10.1007/8904_2016_9. Epub 2016 Aug 13.

12.

Nonsyndromic Disorders of Testicular Development.

Mohnach L, Fechner PY, Keegan CE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 May 21 [updated 2016 Jun 2].

13.

The shelterin complex and hematopoiesis.

Jones M, Bisht K, Savage SA, Nandakumar J, Keegan CE, Maillard I.

J Clin Invest. 2016 May 2;126(5):1621-9. doi: 10.1172/JCI84547. Epub 2016 May 2. Review.

14.

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

Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL.

Hum Mol Genet. 2016 Feb 1;25(3):597-608. doi: 10.1093/hmg/ddv499. Epub 2015 Dec 8.

15.

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

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.

Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.

16.

Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.

Hipp LE, Mohnach LH, Wei S, Thomas IH, Elhassan ME, Sandberg DE, Quint EH, Keegan CE.

Am J Med Genet A. 2016 Jan;170A(1):233-8. doi: 10.1002/ajmg.a.37403. Epub 2015 Sep 26.

17.

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

Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA.

Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18.

18.

Hematopoietic stem cells are acutely sensitive to Acd shelterin gene inactivation.

Jones M, Osawa G, Regal JA, Weinberg DN, Taggart J, Kocak H, Friedman A, Ferguson DO, Keegan CE, Maillard I.

J Clin Invest. 2014 Jan;124(1):353-66. doi: 10.1172/JCI67871. Epub 2013 Dec 9.

19.

9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.

Quinonez SC, Park JM, Rabah R, Owens KM, Yashar BM, Glover TW, Keegan CE.

Am J Med Genet A. 2013 Aug;161A(8):1882-96. doi: 10.1002/ajmg.a.36018. Epub 2013 Jul 3. Review.

PMID:
23824832
20.

Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.

Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW.

Am J Med Genet A. 2013 May;161A(5):1019-27. doi: 10.1002/ajmg.a.35843. Epub 2013 Mar 26.

PMID:
23532960
21.

Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.

Vlangos CN, Siuniak AN, Robinson D, Chinnaiyan AM, Lyons RH Jr, Cavalcoli JD, Keegan CE.

PLoS Genet. 2013;9(2):e1003205. doi: 10.1371/journal.pgen.1003205. Epub 2013 Feb 21.

22.

Aged PROP1 deficient dwarf mice maintain ACTH production.

Nasonkin IO, Ward RD, Bavers DL, Beuschlein F, Mortensen AH, Keegan CE, Hammer GD, Camper SA.

PLoS One. 2011;6(12):e28355. doi: 10.1371/journal.pone.0028355. Epub 2011 Dec 1.

23.

Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome.

Wang AC, Gemmete JJ, Keegan CE, Witt CE, Muraszko KM, Than KD, Maher CO.

J Neurosurg Pediatr. 2011 Nov;8(5):460-3. doi: 10.3171/2011.8.PEDS11117.

PMID:
22044369
24.

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

O'Connor BC, Macke EL, Keegan CE.

Mamm Genome. 2011 Dec;22(11-12):714-21. doi: 10.1007/s00335-011-9360-4. Epub 2011 Oct 22.

25.

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.

Vlangos CN, Siuniak A, Ackley T, van Bokhoven H, Veltman J, Iyer R, Park JM, Keppler-Noreuil K, Keegan CE.

Am J Med Genet A. 2011 Jan;155A(1):38-49. doi: 10.1002/ajmg.a.33757.

PMID:
21204209
26.

Telomere protection by TPP1 is mediated by POT1a and POT1b.

Kibe T, Osawa GA, Keegan CE, de Lange T.

Mol Cell Biol. 2010 Feb;30(4):1059-66. doi: 10.1128/MCB.01498-09. Epub 2009 Dec 7.

27.

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P.

Hum Genet. 2009 Aug;126(2):342. No abstract available.

PMID:
19694026
28.

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P.

Hum Genet. 2009 Aug;126(2):341. No abstract available.

PMID:
19694025
29.

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

Vlangos CN, O'Connor BC, Morley MJ, Krause AS, Osawa GA, Keegan CE.

Dev Biol. 2009 Oct 15;334(2):418-28. doi: 10.1016/j.ydbio.2009.07.038. Epub 2009 Aug 3.

30.

Identification of critical regions for clinical features of distal 10q deletion syndrome.

Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW.

Clin Genet. 2009 Jul;76(1):54-62. doi: 10.1111/j.1399-0004.2008.01115.x. Epub 2009 Jun 22.

31.

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.

Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P.

Am J Med Genet A. 2008 Nov 15;146A(22):2885-90. doi: 10.1002/ajmg.a.32527. Erratum in: Am J Med Genet A. 2010 Apr;152A(4):1061.

32.

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A.

Genet Med. 2008 Apr;10(4):267-77. doi: 10.1097/GIM.0b013e31816b64c2.

PMID:
18414210
33.

Tpp1/Acd maintains genomic stability through a complex role in telomere protection.

Else T, Theisen BK, Wu Y, Hutz JE, Keegan CE, Hammer GD, Ferguson DO.

Chromosome Res. 2007;15(8):1001-13. doi: 10.1007/s10577-007-1175-5. Epub 2008 Jan 9.

PMID:
18185984
34.

Telomere protection by mammalian Pot1 requires interaction with Tpp1.

Hockemeyer D, Palm W, Else T, Daniels JP, Takai KK, Ye JZ, Keegan CE, de Lange T, Hammer GD.

Nat Struct Mol Biol. 2007 Aug;14(8):754-61. Epub 2007 Jul 15. Erratum in: Nat Struct Mol Biol. 2009 May;16(5):572.

PMID:
17632522
35.

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

Keegan CE, Hutz JE, Krause AS, Koehler K, Metherell LA, Boikos S, Stergiopoulos S, Clark AJ, Stratakis CA, Huebner A, Hammer GD.

Clin Endocrinol (Oxf). 2007 Aug;67(2):168-74. Epub 2007 Apr 27.

36.

Craniofacial dyssynostosis in two boys with apparently normal cognitive development.

Lahidji SF, Buchman SR, Muraszko K, Innis JW, Keegan CE.

Am J Med Genet A. 2006 Jun 15;140(12):1333-6. No abstract available.

37.

IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.

Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Lecointre C, McCabe ER, Hammer GD, Keegan CE.

Mol Genet Metab. 2006 May;88(1):66-70. Epub 2006 Feb 28.

PMID:
16504561
38.

Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator.

Keegan CE, Hutz JE, Else T, Adamska M, Shah SP, Kent AE, Howes JM, Beamer WG, Hammer GD.

Hum Mol Genet. 2005 Jan 1;14(1):113-23. Epub 2004 Nov 10.

PMID:
15537664
39.

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.

Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW.

Am J Med Genet A. 2004 Mar 15;125A(3):293-8.

PMID:
14994240
40.

Mouse knockout solves endocrine puzzle and promotes new pituitary lineage model.

Keegan CE, Camper SA.

Genes Dev. 2003 Mar 15;17(6):677-82. Review. No abstract available.

41.
42.

SF-1, DAX-1, and acd: molecular determinants of adrenocortical growth and steroidogenesis.

Beuschlein F, Keegan CE, Bavers DL, Mutch C, Hutz JE, Shah S, Ulrich-Lai YM, Engeland WC, Jeffs B, Jameson JL, Hammer GD.

Endocr Res. 2002 Nov;28(4):597-607. Review.

PMID:
12530669
43.

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW.

Am J Hum Genet. 2003 Feb;72(2):408-18. Epub 2002 Nov 27.

44.

Recent insights into organogenesis of the adrenal cortex.

Keegan CE, Hammer GD.

Trends Endocrinol Metab. 2002 Jul;13(5):200-8. Review.

PMID:
12185666
45.
46.

An overview of molecular diagnosis of steroid 21-hydroxylase deficiency.

Keegan CE, Killeen AA.

J Mol Diagn. 2001 May;3(2):49-54. Review. No abstract available.

47.

Implementing transgenic and embryonic stem cell technology to study gene expression, cell-cell interactions and gene function.

Camper SA, Saunders TL, Kendall SK, Keri RA, Seasholtz AF, Gordon DF, Birkmeier TS, Keegan CE, Karolyi IJ, Roller ML, et al.

Biol Reprod. 1995 Feb;52(2):246-57. Review.

PMID:
7711194
48.

Expression of corticotropin-releasing hormone transgenes in neurons of adult and developing mice.

Keegan CE, Karolyi IJ, Knapp LT, Bourbonais FJ, Camper SA, Seasholtz AF.

Mol Cell Neurosci. 1994 Dec;5(6):505-14.

49.

Differential expression of corticotropin-releasing hormone in developing mouse embryos and adult brain.

Keegan CE, Herman JP, Karolyi IJ, O'Shea KS, Camper SA, Seasholtz AF.

Endocrinology. 1994 Jun;134(6):2547-55.

PMID:
8194481
50.

Corticotropin-releasing hormone (Crh) maps to mouse chromosome 3.

Knapp LT, Keegan CE, Seasholtz AF, Camper SA.

Mamm Genome. 1993;4(10):615-7. No abstract available.

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