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Items: 32

1.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.

PMID:
30817854
2.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K.

J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11.

PMID:
30746764
3.

Philip D. Pallister of Montana.

Opitz JM, Mullen P, Elias AF.

Am J Med Genet A. 2019 Jan;179(1):9-12. doi: 10.1002/ajmg.a.60695. Epub 2018 Dec 20. No abstract available.

PMID:
30569546
4.

Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.

Johnson JP, Beischel L, Schwanke C, Styren K, Crunk A, Schoof J, Elias AF.

J Assist Reprod Genet. 2018 Jun;35(6):985-992. doi: 10.1007/s10815-018-1228-z. Epub 2018 Jun 24.

5.

Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.

LaConte LEW, Chavan V, Elias AF, Hudson C, Schwanke C, Styren K, Shoof J, Kok F, Srivastava S, Mukherjee K.

Hum Genet. 2018 Mar;137(3):231-246. doi: 10.1007/s00439-018-1874-3. Epub 2018 Feb 9.

6.

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.

Stevens SJ, van Essen AJ, van Ravenswaaij CM, Elias AF, Haven JA, Lelieveld SH, Pfundt R, Nillesen WM, Yntema HG, van Roozendaal K, Stegmann AP, Gilissen C, Brunner HG.

Genome Med. 2016 Dec 13;8(1):131.

7.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S.

Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087. Epub 2016 Aug 12.

PMID:
27521439
8.

Second Pallister-Opitz Genetics Symposium, Helena, Montana, July 2015.

Elias AF, Opitz JM.

Am J Med Genet A. 2016 Jun;170(6):1405-21. doi: 10.1002/ajmg.a.37599. Epub 2016 Mar 4. No abstract available.

PMID:
26945507
9.

A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services.

Rinke ML, Driscoll A, Mikat-Stevens N, Healy J, Colantuoni E, Elias AF, Pletcher BA, Gubernick RS, Larson I, Chung WK, Tarini BA.

Pediatrics. 2016 Feb;137(2):e20143874. doi: 10.1542/peds.2014-3874. Epub 2016 Jan 28.

10.

The Shodair Medical Genetics Department--recent past and future developments.

Elias AF.

Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):381-6. doi: 10.1002/ajmg.c.31417. Epub 2014 Nov 25. Review.

PMID:
25424535
11.

Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.

Hudson C, Schwanke C, Johnson JP, Elias AF, Phillips S, Schwalbe T, Tunby M, Xu D.

Am J Med Genet A. 2014 Aug;164A(8):2109-13. doi: 10.1002/ajmg.a.36548. Epub 2014 Apr 8. No abstract available.

12.

Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease.

Elias AF, Johnson MR, Boitnott JK, Valle D.

JIMD Rep. 2012;5:95-8. doi: 10.1007/8904_2011_104. Epub 2011 Dec 11.

13.

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL.

Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349.

14.

Tuberculosis and profound hypovitaminosis D in an infant.

Elias AF, Dunn J, Huntington MK.

Pediatr Infect Dis J. 2011 Nov;30(11):1008-10. doi: 10.1097/INF.0b013e3182271947.

PMID:
21691243
15.

Community-based intervention to manage an outbreak of MRSA skin infections in a county jail.

Elias AF, Chaussee MS, McDowell EJ, Huntington MK.

J Correct Health Care. 2010 Jul;16(3):205-15. doi: 10.1177/1078345810366679. Epub 2010 May 12.

16.

Typhoid fever in a young immigrant child: a case report and review of the literature.

Elias AF, Peterson SN, Huntington MK.

S D Med. 2008 Jul;61(7):255-8.

PMID:
18717293
17.

The spectrum of staphylococcal scalded skin syndrome: case report of a four-month-old infant.

Elias AF, Asad A, Burrish GF, Mailloux ER.

S D Med. 2007 Mar;60(3):107-12. No abstract available.

PMID:
17455579
18.

Borrelia burgdorferi sigma54 is required for mammalian infection and vector transmission but not for tick colonization.

Fisher MA, Grimm D, Henion AK, Elias AF, Stewart PE, Rosa PA, Gherardini FC.

Proc Natl Acad Sci U S A. 2005 Apr 5;102(14):5162-7. Epub 2005 Mar 2.

19.

Experimental assessment of the roles of linear plasmids lp25 and lp28-1 of Borrelia burgdorferi throughout the infectious cycle.

Grimm D, Eggers CH, Caimano MJ, Tilly K, Stewart PE, Elias AF, Radolf JD, Rosa PA.

Infect Immun. 2004 Oct;72(10):5938-46.

20.

Outer-surface protein C of the Lyme disease spirochete: a protein induced in ticks for infection of mammals.

Grimm D, Tilly K, Byram R, Stewart PE, Krum JG, Bueschel DM, Schwan TG, Policastro PF, Elias AF, Rosa PA.

Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):3142-7. Epub 2004 Feb 17.

21.

New antibiotic resistance cassettes suitable for genetic studies in Borrelia burgdorferi.

Elias AF, Bono JL, Kupko JJ 3rd, Stewart PE, Krum JG, Rosa PA.

J Mol Microbiol Biotechnol. 2003;6(1):29-40.

PMID:
14593251
22.

An enhanced GFP reporter system to monitor gene expression in Borrelia burgdorferi.

Carroll JA, Stewart PE, Rosa P, Elias AF, Garon CF.

Microbiology. 2003 Jul;149(Pt 7):1819-28.

PMID:
12855733
23.

Plasmid stability during in vitro propagation of Borrelia burgdorferi assessed at a clonal level.

Grimm D, Elias AF, Tilly K, Rosa PA.

Infect Immun. 2003 Jun;71(6):3138-45.

24.

Population dynamics of a heterogeneous Borrelia burgdorferi B31 strain in an experimental mouse-tick infectious cycle.

Elias AF, Schmutzhard J, Stewart PE, Schwan TG, Rosa P.

Wien Klin Wochenschr. 2002 Jul 31;114(13-14):557-61.

PMID:
12422601
25.

Clonal polymorphism of Borrelia burgdorferi strain B31 MI: implications for mutagenesis in an infectious strain background.

Elias AF, Stewart PE, Grimm D, Caimano MJ, Eggers CH, Tilly K, Bono JL, Akins DR, Radolf JD, Schwan TG, Rosa P.

Infect Immun. 2002 Apr;70(4):2139-50.

26.

Genetics and regulation of chitobiose utilization in Borrelia burgdorferi.

Tilly K, Elias AF, Errett J, Fischer E, Iyer R, Schwartz I, Bono JL, Rosa P.

J Bacteriol. 2001 Oct;183(19):5544-53.

27.

Transduction by phiBB-1, a bacteriophage of Borrelia burgdorferi.

Eggers CH, Kimmel BJ, Bono JL, Elias AF, Rosa P, Samuels DS.

J Bacteriol. 2001 Aug;183(16):4771-8.

28.

DNA exchange and insertional inactivation in spirochetes.

Tilly K, Elias AF, Bono JL, Stewart P, Rosa P.

J Mol Microbiol Biotechnol. 2000 Oct;2(4):433-42. Review.

PMID:
11075915
29.

Borrelia burgdorferi periplasmic flagella have both skeletal and motility functions.

Motaleb MA, Corum L, Bono JL, Elias AF, Rosa P, Samuels DS, Charon NW.

Proc Natl Acad Sci U S A. 2000 Sep 26;97(20):10899-904.

30.

Altered stationary-phase response in a Borrelia burgdorferi rpoS mutant.

Elias AF, Bono JL, Carroll JA, Stewart P, Tilly K, Rosa P.

J Bacteriol. 2000 May;182(10):2909-18.

31.

Efficient targeted mutagenesis in Borrelia burgdorferi.

Bono JL, Elias AF, Kupko JJ 3rd, Stevenson B, Tilly K, Rosa P.

J Bacteriol. 2000 May;182(9):2445-52.

32.

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