Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 95

1.

Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.

Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM.

Blood Cells Mol Dis. 2019 Jul;77:101-102. doi: 10.1016/j.bcmd.2019.04.003. Epub 2019 Apr 9. No abstract available.

PMID:
31029022
2.

Characterisation of the effect of day length, and associated differences in dietary intake, on the gut microbiota of Soay sheep.

Thomas NA, Olvera-Ramírez AM, Abecia L, Adam CL, Edwards JE, Cox GF, Findlay PA, Destables E, Wood TA, McEwan NR.

Arch Microbiol. 2019 Apr 9. doi: 10.1007/s00203-019-01652-w. [Epub ahead of print]

PMID:
30968220
3.

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.

Cox GF, Clarke LA, Giugliani R, McGovern MM.

JIMD Rep. 2018;41:119-129. doi: 10.1007/8904_2018_120. Epub 2018 Jul 12.

4.

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.

Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM.

Blood Cells Mol Dis. 2018 Jul;71:71-74. doi: 10.1016/j.bcmd.2018.04.001. Epub 2018 Apr 9. No abstract available.

5.

Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo".

Wilson CJ, Fennell T, Bothmer A, Maeder ML, Reyon D, Cotta-Ramusino C, Fernandez CA, Marco E, Barrera LA, Jayaram H, Albright CF, Cox GF, Church GM, Myer VE.

Nat Methods. 2018 Apr;15(4):236-237. doi: 10.1038/nmeth.4552. Epub 2018 Mar 30. No abstract available.

PMID:
29600989
6.

The art and science of choosing efficacy endpoints for rare disease clinical trials.

Cox GF.

Am J Med Genet A. 2018 Apr;176(4):759-772. doi: 10.1002/ajmg.a.38629. Epub 2018 Feb 9. Review.

PMID:
29423972
7.

Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].

Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF.

Mol Genet Metab. 2018 Dec;125(4):360. doi: 10.1016/j.ymgme.2017.09.005. Epub 2017 Nov 10. No abstract available.

PMID:
29129654
8.

Efficacy and safety of sevelamer carbonate in hyperphosphatemic pediatric patients with chronic kidney disease.

Fathallah-Shaykh S, Drozdz D, Flynn J, Jenkins R, Wesseling-Perry K, Swartz SJ, Wong C, Accomando B, Cox GF, Warady BA.

Pediatr Nephrol. 2018 Feb;33(2):325-333. doi: 10.1007/s00467-017-3787-0. Epub 2017 Sep 12.

PMID:
28900759
9.

Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group.

Rusconi P, Wilkinson JD, Sleeper LA, Lu M, Cox GF, Towbin JA, Colan SD, Webber SA, Canter CE, Ware SM, Hsu DT, Chung WK, Jefferies JL, Cordero C, Lipshultz SE; Pediatric Cardiomyopathy Registry Investigators.

Circ Heart Fail. 2017 Feb;10(2). pii: e002637. doi: 10.1161/CIRCHEARTFAILURE.115.002637.

10.

Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

Gradstein L, Hansen RM, Cox GF, Altschwager P, Fulton AB.

Doc Ophthalmol. 2017 Apr;134(2):135-140. doi: 10.1007/s10633-017-9574-1. Epub 2017 Jan 31.

PMID:
28144890
11.

A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration.

Peterschmitt MJ, Cox GF, Ibrahim J, MacDougall J, Underhill LH, Patel P, Gaemers SJM.

Blood Cells Mol Dis. 2018 Feb;68:185-191. doi: 10.1016/j.bcmd.2017.01.006. Epub 2017 Jan 13.

12.

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.

Giugliani R, Vieira TA, Carvalho CG, Muñoz-Rojas MV, Semyachkina AN, Voinova VY, Richards S, Cox GF, Xue Y.

Mol Genet Metab Rep. 2017 Jan 13;10:61-66. doi: 10.1016/j.ymgmr.2017.01.004. eCollection 2017 Mar.

13.

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.

El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):47-56. doi: 10.1016/j.ymgme.2016.12.001. Epub 2016 Dec 6.

14.

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency.

Thurberg BL, Wasserstein MP, Jones SA, Schiano TD, Cox GF, Puga AC.

Am J Surg Pathol. 2016 Sep;40(9):1232-42. doi: 10.1097/PAS.0000000000000659.

15.

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF.

Mol Genet Metab. 2016 Jul;118(3):206-13. doi: 10.1016/j.ymgme.2016.05.001. Epub 2016 May 11. Review. Erratum in: Mol Genet Metab. 2018 Dec;125(4):360.

16.

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.

Chuang WL, Pacheco J, Cooper S, Kingsbury JS, Hinds J, Wolf P, Oliva P, Keutzer J, Cox GF, Zhang K.

Mol Genet Metab Rep. 2015 Apr 17;3:55-7. doi: 10.1016/j.ymgmr.2015.04.001. eCollection 2015 Jun.

17.

Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studies.

Xue Y, Richards SM, Mahmood A, Cox GF.

Mol Genet Metab. 2016 Apr;117(4):419-26. doi: 10.1016/j.ymgme.2016.02.006. Epub 2016 Feb 20.

18.

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.

Wasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL, Culm-Merdek K, Shamiyeh E, Inguilizian H, Cox GF, Puga AC.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):88-97. doi: 10.1016/j.ymgme.2015.05.013. Epub 2015 May 30.

19.

Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy.

Castorina M, Antuzzi D, Richards SM, Cox GF, Xue Y.

Clin Exp Obstet Gynecol. 2015;42(1):108-13.

PMID:
25864295
20.

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).

McGovern MM, Wasserstein MP, Kirmse B, Duvall WL, Schiano T, Thurberg BL, Richards S, Cox GF.

Genet Med. 2016 Jan;18(1):34-40. doi: 10.1038/gim.2015.24. Epub 2015 Apr 2.

PMID:
25834946
21.

Redefining the MED13L syndrome.

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM.

Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.

22.

Monoallelic expression of the human FOXP2 speech gene.

Adegbola AA, Cox GF, Bradshaw EM, Hafler DA, Gimelbrant A, Chess A.

Proc Natl Acad Sci U S A. 2015 Jun 2;112(22):6848-54. doi: 10.1073/pnas.1411270111. Epub 2014 Nov 24.

23.

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG.

Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21.

24.

Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.

Chuang WL, Pacheco J, Cooper S, McGovern MM, Cox GF, Keutzer J, Zhang XK.

Mol Genet Metab. 2014 Feb;111(2):209-11. doi: 10.1016/j.ymgme.2013.11.012. Epub 2013 Dec 7.

PMID:
24418695
25.

Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.

Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I.

J Neuroophthalmol. 2014 Mar;34(1):39-43. doi: 10.1097/WNO.0000000000000076. Review.

PMID:
24284555
26.

CRB1: one gene, many phenotypes.

Ehrenberg M, Pierce EA, Cox GF, Fulton AB.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):397-405. doi: 10.3109/08820538.2013.825277. Review.

PMID:
24138049
27.

Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry.

Lipshultz SE, Orav EJ, Wilkinson JD, Towbin JA, Messere JE, Lowe AM, Sleeper LA, Cox GF, Hsu DT, Canter CE, Hunter JA, Colan SD; Pediatric Cardiomyopathy Registry Study Group.

Lancet. 2013 Dec 7;382(9908):1889-97. doi: 10.1016/S0140-6736(13)61685-2. Epub 2013 Sep 3.

28.

Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry.

Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF, Towbin JA, Connuck DM, Messere JE, Lipshultz SE.

Am Heart J. 2012 Sep;164(3):442-8. doi: 10.1016/j.ahj.2012.04.018. Epub 2012 Aug 9.

PMID:
22980313
29.

Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B).

Thurberg BL, Wasserstein MP, Schiano T, O'Brien F, Richards S, Cox GF, McGovern MM.

Am J Surg Pathol. 2012 Aug;36(8):1234-46. doi: 10.1097/PAS.0b013e31825793ff.

30.

High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry.

Arn P, Whitley C, Wraith JE, Webb HW, Underhill L, Rangachari L, Cox GF.

J Pediatr Surg. 2012 Mar;47(3):477-84. doi: 10.1016/j.jpedsurg.2011.09.042.

PMID:
22424341
31.

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

D'Aco K, Underhill L, Rangachari L, Arn P, Cox GF, Giugliani R, Okuyama T, Wijburg F, Kaplan P.

Eur J Pediatr. 2012 Jun;171(6):911-9. doi: 10.1007/s00431-011-1644-x. Epub 2012 Jan 11.

32.

Source document verification in the Mucopolysaccharidosis Type I Registry.

Verhulst K, Artiles-Carloni L, Beck M, Clarke JT, Neto JC, Cox GF, Fernhoff PM, Guffon N, Kong Y, Martins AM, Tylki-Szymanska A, Whitley CB, Wijburg FA, Wraith EJ, Koepper CM.

Pharmacoepidemiol Drug Saf. 2012 Jul;21(7):749-752. doi: 10.1002/pds.2200. Epub 2011 Dec 14.

PMID:
22170853
33.

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M.

PLoS One. 2011;6(8):e22861. doi: 10.1371/journal.pone.0022861. Epub 2011 Aug 8.

34.

Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry.

Alvarez JA, Orav EJ, Wilkinson JD, Fleming LE, Lee DJ, Sleeper LA, Rusconi PG, Colan SD, Hsu DT, Canter CE, Webber SA, Cox GF, Jefferies JL, Towbin JA, Lipshultz SE; Pediatric Cardiomyopathy Registry Investigators.

Circulation. 2011 Aug 16;124(7):814-23. doi: 10.1161/CIRCULATIONAHA.110.973826. Epub 2011 Jul 25.

35.

The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years.

Wilkinson JD, Landy DC, Colan SD, Towbin JA, Sleeper LA, Orav EJ, Cox GF, Canter CE, Hsu DT, Webber SA, Lipshultz SE.

Heart Fail Clin. 2010 Oct;6(4):401-13, vii. doi: 10.1016/j.hfc.2010.05.002. Review.

36.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG.

Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.

37.

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.

Thomas JA, Beck M, Clarke JT, Cox GF.

J Inherit Metab Dis. 2010 Aug;33(4):421-7. doi: 10.1007/s10545-010-9113-7. Epub 2010 Jun 2.

38.

Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).

Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T.

Mol Genet Metab. 2010 Jan;99(1):18-25. doi: 10.1016/j.ymgme.2009.08.006.

PMID:
19773189
39.

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Sidman M, Kakkis ED, Cox GF.

Pediatrics. 2009 Jan;123(1):229-40. doi: 10.1542/peds.2007-3847.

PMID:
19117887
40.

A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.

Giugliani R, Rojas VM, Martins AM, Valadares ER, Clarke JT, Góes JE, Kakkis ED, Worden MA, Sidman M, Cox GF.

Mol Genet Metab. 2009 Jan;96(1):13-9. doi: 10.1016/j.ymgme.2008.10.009. Epub 2008 Nov 26.

PMID:
19038563
42.

A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.

Adegbola AA, Gonzales ML, Chess A, LaSalle JM, Cox GF.

Hum Genet. 2009 Jan;124(6):615-23. doi: 10.1007/s00439-008-0585-6. Epub 2008 Nov 7.

PMID:
18989701
43.

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.

Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L.

J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23.

44.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL.

J Med Genet. 2009 Apr;46(4):242-8. doi: 10.1136/jmg.2008.059907. Epub 2008 Sep 19.

45.

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF.

Pediatrics. 2008 Aug;122(2):e341-9. doi: 10.1542/peds.2007-3016. Epub 2008 Jul 14.

46.

Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry.

Connuck DM, Sleeper LA, Colan SD, Cox GF, Towbin JA, Lowe AM, Wilkinson JD, Orav EJ, Cuniberti L, Salbert BA, Lipshultz SE; Pediatric Cardiomyopathy Registry Study Group.

Am Heart J. 2008 Jun;155(6):998-1005. doi: 10.1016/j.ahj.2008.01.018. Epub 2008 Mar 19.

47.

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, Robson CD, Kimonis VE.

Am J Med Genet A. 2007 Dec 15;143A(24):2973-80.

PMID:
18000896
48.

Sibling phenotype concordance in classical infantile Pompe disease.

Smith WE, Sullivan-Saarela JA, Li JS, Cox GF, Corzo D, Chen YT, Kishnani PS.

Am J Med Genet A. 2007 Nov 1;143A(21):2493-501. Review.

PMID:
17853454
49.

Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry.

Colan SD, Lipshultz SE, Lowe AM, Sleeper LA, Messere J, Cox GF, Lurie PR, Orav EJ, Towbin JA.

Circulation. 2007 Feb 13;115(6):773-81. Epub 2007 Jan 29.

PMID:
17261650
50.

Incidence, causes, and outcomes of dilated cardiomyopathy in children.

Towbin JA, Lowe AM, Colan SD, Sleeper LA, Orav EJ, Clunie S, Messere J, Cox GF, Lurie PR, Hsu D, Canter C, Wilkinson JD, Lipshultz SE.

JAMA. 2006 Oct 18;296(15):1867-76.

PMID:
17047217

Supplemental Content

Support Center