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Items: 1 to 50 of 398

1.

Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.

Levy HL, Sarkissian CN, Scriver CR.

Mol Genet Metab. 2018 Aug;124(4):223-229. doi: 10.1016/j.ymgme.2018.06.002. Epub 2018 Jun 9. Review.

PMID:
29941359
2.

2015 Victor A. McKusick Leadership Award.

Scriver CR.

Am J Hum Genet. 2016 Mar 3;98(3):433-434. doi: 10.1016/j.ajhg.2015.11.008. No abstract available.

3.

Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Sarkissian CN, Gamez A, Scott P, Dauvillier J, Dorenbaum A, Scriver CR, Stevens RC.

JIMD Rep. 2012;5:59-70. doi: 10.1007/8904_2011_96. Epub 2011 Dec 6.

4.

Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.

Sarkissian CN, Kang TS, Gámez A, Scriver CR, Stevens RC.

Mol Genet Metab. 2011 Nov;104(3):249-54. doi: 10.1016/j.ymgme.2011.06.016. Epub 2011 Jun 29.

5.

Phenylalanine hydroxylase deficiency.

Mitchell JJ, Trakadis YJ, Scriver CR.

Genet Med. 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. Review.

PMID:
21555948
6.

American Pediatric Society's 2010 John Howland Award acceptance lecture: some things considered.

Scriver CR.

Pediatr Res. 2011 Jun;69(6):576-7. doi: 10.1203/PDR.0b013e31821aac74. No abstract available.

PMID:
21552094
7.

Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria.

Kang TS, Wang L, Sarkissian CN, Gámez A, Scriver CR, Stevens RC.

Mol Genet Metab. 2010 Jan;99(1):4-9. doi: 10.1016/j.ymgme.2009.09.002.

8.

Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria.

Sarkissian CN, Gámez A, Wang L, Charbonneau M, Fitzpatrick P, Lemontt JF, Zhao B, Vellard M, Bell SM, Henschell C, Lambert A, Tsuruda L, Stevens RC, Scriver CR.

Proc Natl Acad Sci U S A. 2008 Dec 30;105(52):20894-9. doi: 10.1073/pnas.0808421105. Epub 2008 Dec 18.

9.

Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Scriver CR.

J Inherit Metab Dis. 2008 Oct;31(5):580-98. doi: 10.1007/s10545-008-0984-9. Epub 2008 Oct 12. Review.

PMID:
18850300
10.

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism.

Campeau PM, Scriver CR, Mitchell JJ.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):11-6. doi: 10.1016/j.ymgme.2008.07.001. Epub 2008 Aug 12.

PMID:
18701331
11.

Encomium to accompany "Of mice and children: reminiscences of a teratogeneticist".

Scriver CR.

Am J Med Genet A. 2008 Sep 1;146A(17):2177-8. doi: 10.1002/ajmg.a.32471. No abstract available.

PMID:
18698618
12.

What we know that could influence future treatment of phenylketonuria.

Sarkissian CN, Gámez A, Scriver CR.

J Inherit Metab Dis. 2009 Feb;32(1):3-9. doi: 10.1007/s10545-008-0917-7. Epub 2008 Aug 3. Review.

PMID:
18668342
13.

Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase.

Wang L, Gamez A, Archer H, Abola EE, Sarkissian CN, Fitzpatrick P, Wendt D, Zhang Y, Vellard M, Bliesath J, Bell SM, Lemontt JF, Scriver CR, Stevens RC.

J Mol Biol. 2008 Jul 18;380(4):623-35. doi: 10.1016/j.jmb.2008.05.025. Epub 2008 May 17.

14.

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

Hardelid P, Cortina-Borja M, Munro A, Jones H, Cleary M, Champion MP, Foo Y, Scriver CR, Dezateux C.

Ann Hum Genet. 2008 Jan;72(Pt 1):65-71. doi: 10.1111/j.1469-1809.2007.00389.x.

15.

Recommendations for locus-specific databases and their curation.

Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT.

Hum Mutat. 2008 Jan;29(1):2-5.

16.

Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria.

Gámez A, Wang L, Sarkissian CN, Wendt D, Fitzpatrick P, Lemontt JF, Scriver CR, Stevens RC.

Mol Genet Metab. 2007 Aug;91(4):325-34. Epub 2007 Jun 8.

PMID:
17560821
17.
18.

The PAH gene, phenylketonuria, and a paradigm shift.

Scriver CR.

Hum Mutat. 2007 Sep;28(9):831-45. Review.

PMID:
17443661
19.

Recommendations of the 2006 Human Variome Project meeting.

Cotton RG; 2006 Human Variome Project, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ, Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M.

Nat Genet. 2007 Apr;39(4):433-6.

PMID:
17392799
20.

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.

van Baal S, Kaimakis P, Phommarinh M, Koumbi D, Cuppens H, Riccardino F, Macek M Jr, Scriver CR, Patrinos GP.

Nucleic Acids Res. 2007 Jan;35(Database issue):D690-5. Epub 2006 Nov 28.

21.

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

Murphy BC, Scriver CR, Singh SM.

Hum Mutat. 2006 Sep;27(9):975.

PMID:
16917891
22.

Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.

Scriver CR.

Community Genet. 2006;9(3):142-52. Review.

PMID:
16741343
23.

Human mutation databases.

Cotton RG, Scriver CR.

Hum Genomics. 2006 Mar;2(5):272; author reply 272-3. No abstract available.

24.

Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria.

Wang L, Gamez A, Sarkissian CN, Straub M, Patch MG, Han GW, Striepeke S, Fitzpatrick P, Scriver CR, Stevens RC.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):134-40. Epub 2005 Jul 11.

PMID:
16006165
25.

Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria.

Gámez A, Sarkissian CN, Wang L, Kim W, Straub M, Patch MG, Chen L, Striepeke S, Fitzpatrick P, Lemontt JF, O'Neill C, Scriver CR, Stevens RC.

Mol Ther. 2005 Jun;11(6):986-9.

26.

The human genome project will not replace the physician.

Scriver CR.

CMAJ. 2004 Dec 7;171(12):1461-4. No abstract available.

27.

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.

Erlandsen H, Pey AL, Gámez A, Pérez B, Desviat LR, Aguado C, Koch R, Surendran S, Tyring S, Matalon R, Scriver CR, Ugarte M, Martínez A, Stevens RC.

Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16903-8. Epub 2004 Nov 19.

28.

The last day of the past is the first day of the future: Transitional care for genetic patients.

Scriver CR, Lee PJ.

Am J Med. 2004 Oct 15;117(8):615-7. No abstract available.

PMID:
15465513
29.

After the genome--the phenome?

Scriver CR.

J Inherit Metab Dis. 2004;27(3):305-17. Review.

PMID:
15190190
30.

Translating knowledge into practice in the "post-genome" era.

Scriver CR.

Acta Paediatr. 2004 Mar;93(3):294-300.

PMID:
15124827
31.

Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice.

Qiu ZQ, Travers R, Rauch F, Glorieux FH, Scriver CR, Tenenhouse HS.

Bone. 2004 Jan;34(1):134-9.

PMID:
14751570
32.

New approaches to treat PKU: how far are we?

Blau N, Scriver CR.

Mol Genet Metab. 2004 Jan;81(1):1-2. Review. No abstract available.

PMID:
14728984
33.

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT.

Hum Mutat. 2003 Apr;21(4):387-93.

PMID:
12655548
34.

PAHdb 2003: what a locus-specific knowledgebase can do.

Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Ryan S, McDonald D, Sarkissian C.

Hum Mutat. 2003 Apr;21(4):333-44. Review.

PMID:
12655543
35.

Does hereditary metabolic disease modulate senescence and ageing?

Scriver CR.

J Inherit Metab Dis. 2002 May;25(3):235-51. Review.

PMID:
12137233
36.

Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics.

Scriver CR.

J Pediatr. 2002 May;140(5):502-6. Review. No abstract available.

PMID:
12032513
37.

2001 ASHG Award for Excellence in Education. ... And know the place for the first time.

Scriver CR.

Am J Hum Genet. 2002 Feb;70(2):317-23. Epub 2002 Jan 4. No abstract available.

38.

Human genetics: lessons from Quebec populations.

Scriver CR.

Annu Rev Genomics Hum Genet. 2001;2:69-101. Review.

PMID:
11701644
39.

Not preventing--yet, just avoiding Tay-Sachs disease.

Scriver CR.

Adv Genet. 2001;44:267-74. No abstract available.

PMID:
11596989
40.
42.

Garrod's foresight; our hindsight.

Scriver CR.

J Inherit Metab Dis. 2001 Apr;24(2):93-116. Review.

PMID:
11405353
43.

Mutation analysis in metabolic (and other genetic) disease: how soon, how useful.

Scriver CR.

Eur J Pediatr. 2000 Dec;159 Suppl 3:S243-5. No abstract available.

PMID:
11216909
44.
45.

Science's neglected legacy.

Maurer SM, Firestone RB, Scriver CR.

Nature. 2000 May 11;405(6783):117-20. No abstract available.

PMID:
10821250
47.

A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia.

Sarkissian CN, Boulais DM, McDonald JD, Scriver CR.

Mol Genet Metab. 2000 Mar;69(3):188-94.

PMID:
10767173
48.

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype.

Waters PJ, Parniak MA, Akerman BR, Scriver CR.

Mol Genet Metab. 2000 Feb;69(2):101-10. Erratum in: Mol Genet Metab 2001 Jan;72(1):89.

PMID:
10720436
49.

PAHdb: a locus-specific knowledgebase.

Scriver CR, Waters PJ, Sarkissian C, Ryan S, Prevost L, Côté D, Novak J, Teebi S, Nowacki PM.

Hum Mutat. 2000;15(1):99-104.

PMID:
10612829
50.

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