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Items: 1 to 20 of 220

1.

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Vaz FM, McDermott JH, Alders M, Wortmann SB, Kölker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC; Deciphering Developmental Disorders Study, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S.

Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291.

2.

Evidence that hindbrain astrocytes in the rat detect low glucose with a glucose transporter 2-phospholipase C-calcium release mechanism.

Rogers RC, Burke SJ, Collier JJ, Ritter S, Hermann GE.

Am J Physiol Regul Integr Comp Physiol. 2019 Oct 9. doi: 10.1152/ajpregu.00133.2019. [Epub ahead of print]

3.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Bend EG, Aref-Eshghi E, Everman DB, Rogers RC, Cathey SS, Prijoles EJ, Lyons MJ, Davis H, Clarkson K, Gripp KW, Li D, Bhoj E, Zackai E, Mark P, Hakonarson H, Demmer LA, Levy MA, Kerkhof J, Stuart A, Rodenhiser D, Friez MJ, Stevenson RE, Schwartz CE, Sadikovic B.

Clin Epigenetics. 2019 Apr 27;11(1):64. doi: 10.1186/s13148-019-0658-5.

4.

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

Spellicy CJ, Peng Y, Olewiler L, Cathey SS, Rogers RC, Bartholomew D, Johnson J, Alexov E, Lee JA, Friez MJ, Jones JR.

J Hum Genet. 2019 Jun;64(6):561-572. doi: 10.1038/s10038-019-0585-5. Epub 2019 Mar 11.

PMID:
30858506
5.

Hindbrain astrocytes and glucose counter-regulation.

Rogers RC, Hermann GE.

Physiol Behav. 2019 May 15;204:140-150. doi: 10.1016/j.physbeh.2019.02.025. Epub 2019 Feb 21. Review.

PMID:
30797812
6.

Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.

Boccuto L, Abenavoli L, Cascio L, Srikanth S, DuPont B, Mitz AR, Rogers RC, Phelan K.

Clin Genet. 2018 Dec;94(6):590-591. doi: 10.1111/cge.13451. Epub 2018 Oct 11.

PMID:
30308089
7.

Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.

Campos-Xavier B, Rogers RC, Niel-Bütschi F, Ferreira C, Unger S, Spranger J, Superti-Furga A.

Am J Med Genet A. 2018 Dec;176(12):2934-2935. doi: 10.1002/ajmg.a.40631. Epub 2018 Oct 4. No abstract available.

PMID:
30284759
8.

Phelan-McDermid Syndrome.

Phelan K, Rogers RC, Boccuto L.

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.
2005 May 11 [updated 2018 Jun 7].

9.

Effect of Sexual Intercourse on Lower Extremity Muscle Force in Strength-Trained Men.

Valenti LM, Suchil C, Beltran G, Rogers RC, Massey EA, Astorino TA.

J Sex Med. 2018 Jun;15(6):888-893. doi: 10.1016/j.jsxm.2018.04.636. Epub 2018 May 9.

PMID:
29753800
10.

Response of catecholaminergic neurons in the mouse hindbrain to glucoprivic stimuli is astrocyte dependent.

Rogers RC, McDougal DH, Ritter S, Qualls-Creekmore E, Hermann GE.

Am J Physiol Regul Integr Comp Physiol. 2018 Jul 1;315(1):R153-R164. doi: 10.1152/ajpregu.00368.2017. Epub 2018 Mar 28.

11.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.

Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.

12.

Coffin-Lowry Syndrome.

Rogers RC, Abidi FE.

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.
2002 Jul 16 [updated 2018 Feb 1].

13.

Hindbrain Astrocyte Glucodetectors and Counterregulation.

Rogers RC, McDougal DH, Hermann GE.

In: Harris RBS, editor. Appetite and Food Intake: Central Control. 2nd edition. Boca Raton (FL): CRC Press/Taylor & Francis; 2017. Chapter 10.

14.

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.

Louie RJ, Tan QK, Gilner JB, Rogers RC, Younge N, Wechsler SB, McDonald MT, Gordon B, Saski CA, Jones JR, Chapman SJ, Stevenson RE, Sleasman JW, Friez MJ.

Am J Med Genet A. 2017 May;173(5):1219-1225. doi: 10.1002/ajmg.a.38144. Epub 2017 Mar 20.

15.

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

Pierce SB, Gulsuner S, Stapleton GA, Walsh T, Lee MK, Mandell JB, Morales A, Klevit RE, King MC, Rogers RC.

Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a001107. doi: 10.1101/mcs.a001107.

16.

Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.

Peterson JF, Bick DP, Geddes GC, McCarrier J, Grignon JW Jr, Chirempes B, Broeckel U, Abidi F, Rogers RC, Boccuto L, DuPont B, vanTuinen P.

Am J Med Genet A. 2016 Dec;170(12):3348-3351. doi: 10.1002/ajmg.a.37939. Epub 2016 Aug 23. No abstract available.

PMID:
27549580
17.

Hindbrain cytoglucopenia-induced increases in systemic blood glucose levels by 2-deoxyglucose depend on intact astrocytes and adenosine release.

Rogers RC, Ritter S, Hermann GE.

Am J Physiol Regul Integr Comp Physiol. 2016 Jun 1;310(11):R1102-8. doi: 10.1152/ajpregu.00493.2015. Epub 2016 Apr 13.

18.

Astrocytes Regulate GLP-1 Receptor-Mediated Effects on Energy Balance.

Reiner DJ, Mietlicki-Baase EG, McGrath LE, Zimmer DJ, Bence KK, Sousa GL, Konanur VR, Krawczyk J, Burk DH, Kanoski SE, Hermann GE, Rogers RC, Hayes MR.

J Neurosci. 2016 Mar 23;36(12):3531-40. doi: 10.1523/JNEUROSCI.3579-15.2016.

19.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.

20.

IL-1β reciprocally regulates chemokine and insulin secretion in pancreatic β-cells via NF-κB.

Burke SJ, Stadler K, Lu D, Gleason E, Han A, Donohoe DR, Rogers RC, Hermann GE, Karlstad MD, Collier JJ.

Am J Physiol Endocrinol Metab. 2015 Oct 15;309(8):E715-26. doi: 10.1152/ajpendo.00153.2015. Epub 2015 Aug 25.

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