Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 62

1.

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.

Gordeuk VR, Miasnikova GY, Sergueeva AI, Lorenzo FR, Zhang X, Song J, Stockton DW, Prchal JT.

Haematologica. 2019 Jul 9. pii: haematol.2019.216267. doi: 10.3324/haematol.2019.216267. [Epub ahead of print]

2.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH; Pompe ADVANCE Study Consortium.

Genet Med. 2019 May 14. doi: 10.1038/s41436-019-0527-9. [Epub ahead of print]

PMID:
31086307
3.

Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns?

Prasun P, Madan R, Puthuraya S, Subramanian D, Datta I, Kalra V, Thomas R, Stockton DW, Sundaram S, Callaghan J, Callaghan M, Chouthai N.

Dev Neurosci. 2018;40(4):337-343. doi: 10.1159/000493788. Epub 2018 Nov 2.

PMID:
30391947
4.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS; Pompe ADVANCE Study Consortium.

Genet Med. 2018 Oct;20(10):1284-1294. doi: 10.1038/gim.2018.2. Epub 2018 Mar 22.

PMID:
29565424
5.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.

Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.

6.

Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion.

Hutchins K, Rajpurkar M, Stockton DW, Callaghan MU.

Haemophilia. 2017 Jun 4. doi: 10.1111/hae.13065. [Epub ahead of print] No abstract available.

PMID:
28580769
7.

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

Clarke LA, Atherton AM, Burton BK, Day-Salvatore DL, Kaplan P, Leslie ND, Scott CR, Stockton DW, Thomas JA, Muenzer J.

J Pediatr. 2017 Mar;182:363-370. doi: 10.1016/j.jpeds.2016.11.036. Epub 2016 Dec 7. Review. No abstract available.

8.

Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses.

Kazi ZB, Prater SN, Kobori JA, Viskochil D, Bailey C, Gera R, Stockton DW, McIntosh P, Rosenberg AS, Kishnani PS.

JCI Insight. 2016 Jul 21;1(11). pii: 86821. doi: 10.1172/jci.insight.86821.

9.

Premature pubarche in children with Pompe disease.

Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS.

J Pediatr. 2015 Apr;166(4):1075-8.e1. doi: 10.1016/j.jpeds.2014.12.074. Epub 2015 Feb 14.

PMID:
25687635
10.

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.

Chien YH, van der Ploeg A, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Hennermann JB, Devecseri Z, Kempf J, Keutzer J, Kishnani P.

J Neuromuscul Dis. 2015;2(s1):S61-S62. No abstract available.

PMID:
27858651
11.

Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn.

Agarwal R, Feldman GL, Poulik J, Stockton DW, Sood BG.

J Neonatal Perinatal Med. 2014 Jan 1;7(3):247-51. doi: 10.3233/NPM-14814004.

PMID:
25322992
12.

Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.

Beck TF, Shchelochkov OA, Yu Z, Kim BJ, Hernández-García A, Zaveri HP, Bishop C, Overbeek PA, Stockton DW, Justice MJ, Scott DA.

PLoS One. 2013;8(3):e58830. doi: 10.1371/journal.pone.0058830. Epub 2013 Mar 11.

13.

An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.

Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernández-García A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA.

PLoS One. 2013;8(2):e57460. doi: 10.1371/journal.pone.0057460. Epub 2013 Feb 25.

14.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA.

Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5.

15.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE.

N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12. Erratum in: N Engl J Med. 2012 Dec 13;367(24):2362.

16.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L.

Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31.

PMID:
22213154
17.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.

Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L.

Am J Med Genet A. 2012 Feb;158A(2):391-9. doi: 10.1002/ajmg.a.34216. Epub 2011 Dec 21.

18.

Fatal acute encephalopathy in two siblings: a distinct hereditary entity?

Prasun P, Stockton DW.

J Neurol Sci. 2012 Mar 15;314(1-2):155-7. doi: 10.1016/j.jns.2011.10.035. Epub 2011 Nov 21.

PMID:
22113181
19.

Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia.

Prasun P, Karmarkar SA, Agarwal A, Stockton DW.

Clin Dysmorphol. 2012 Jan;21(1):24-6. doi: 10.1097/MCD.0b013e32834cef61.

PMID:
21959862
20.

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.

Slavotinek AM, Rosenfeld JA, Chao R, Niyazov D, Eswara M, Bader PI, Stockton DW, Stankiewicz P, Adam MP.

Am J Med Genet A. 2011 May;155A(5):1196-201. doi: 10.1002/ajmg.a.34002. Epub 2011 Apr 7. No abstract available.

PMID:
21480483
21.

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Wiszniewski W, Lewis RA, Stockton DW, Peng J, Mardon G, Chen R, Lupski JR.

Hum Genet. 2011 Mar;129(3):319-27. doi: 10.1007/s00439-010-0928-y. Epub 2010 Dec 14.

22.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF.

Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004.

23.

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD.

Genet Med. 2010 Oct;12(10):641-7. doi: 10.1097/GIM.0b013e3181ef4286.

PMID:
20808231
24.

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):1042-51. doi: 10.1002/ajmg.b.31071.

PMID:
20333642
25.

A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.

Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Andrew Futreal P, Wooster R, Kamath S, Nayak R, Stratton MR, Patel PI.

Am J Med Genet A. 2007 Feb 15;143(4):390-4. No abstract available.

PMID:
17256800
26.

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR.

Hum Genet. 2006 Sep;120(2):211-26. Epub 2006 Jun 23.

PMID:
16794820
27.

Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.

Bidinost C, Hernandez N, Edward DP, Al-Rajhi A, Lewis RA, Lupski JR, Stockton DW, Bejjani BA.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1486-90.

PMID:
16565383
28.

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.

Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1274-80.

PMID:
16565358
29.

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A.

Hum Mol Genet. 2005 Dec 15;14(24):3865-75. Epub 2005 Nov 3. Erratum in: Hum Mol Genet. 2006 May 1;15(9):1559.

PMID:
16269441
30.

Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis.

Panichkul PC, Al-Hussaini TK, Sierra R, Kashork CD, Popek EJ, Stockton DW, Van den Veyver IB.

J Soc Gynecol Investig. 2005 Jul;12(5):376-83.

PMID:
15979551
31.

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B.

Am J Hum Genet. 2005 Jul;77(1):161-8. Epub 2005 May 27.

32.

Congenital polycythemias/erythrocytoses.

Gordeuk VR, Stockton DW, Prchal JT.

Haematologica. 2005 Jan;90(1):109-16. Review.

33.

Genetic association analysis of chronic mountain sickness in an Andean high-altitude population.

Mejía OM, Prchal JT, León-Velarde F, Hurtado A, Stockton DW.

Haematologica. 2005 Jan;90(1):13-9.

34.

A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation.

Pask AJ, Kanasaki H, Kaiser UB, Conn PM, Janovick JA, Stockton DW, Hess DL, Justice MJ, Behringer RR.

Mol Endocrinol. 2005 Apr;19(4):972-81. Epub 2004 Dec 29.

PMID:
15625238
35.

Expanding the phenotype of alveolar capillary dysplasia (ACD).

Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA.

J Pediatr. 2004 Nov;145(5):646-51.

PMID:
15520767
36.

The fibroblast growth factor receptor-4 Arg388 allele is associated with prostate cancer initiation and progression.

Wang J, Stockton DW, Ittmann M.

Clin Cancer Res. 2004 Sep 15;10(18 Pt 1):6169-78.

37.

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A.

Jiang YH, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL.

Am J Med Genet A. 2004 Nov 15;131(1):1-10.

PMID:
15389703
38.

Loss of heterozygosity occurs via mitotic recombination in Trp53+/- mice and associates with mammary tumor susceptibility of the BALB/c strain.

Blackburn AC, McLary SC, Naeem R, Luszcz J, Stockton DW, Donehower LA, Mohammed M, Mailhes JB, Soferr T, Naber SP, Otis CN, Jerry DJ.

Cancer Res. 2004 Aug 1;64(15):5140-7.

39.

Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2.

Jedlickova K, Stockton DW, Prchal JT.

Blood Cells Mol Dis. 2003 Nov-Dec;31(3):327-31.

PMID:
14636647
40.

The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.

Liu E, Percy MJ, Amos CI, Guan Y, Shete S, Stockton DW, McMullin MF, Polyakova LA, Ang SO, Pastore YD, Jedlickova K, Lappin TR, Gordeuk V, Prchal JT.

Blood. 2004 Mar 1;103(5):1937-40. Epub 2003 Nov 6.

41.

Search for genetic determinants of individual variability of the erythropoietin response to high altitude.

Jedlickova K, Stockton DW, Chen H, Stray-Gundersen J, Witkowski S, Ri-Li G, Jelinek J, Levine BD, Prchal JT.

Blood Cells Mol Dis. 2003 Sep-Oct;31(2):175-82.

PMID:
12972022
42.

Functional genetic analysis of mouse chromosome 11.

Kile BT, Hentges KE, Clark AT, Nakamura H, Salinger AP, Liu B, Box N, Stockton DW, Johnson RL, Behringer RR, Bradley A, Justice MJ.

Nature. 2003 Sep 4;425(6953):81-6.

43.
44.

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.

Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM Jr, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW.

Am J Med Genet A. 2003 Apr 30;118A(3):260-6.

PMID:
12673657
45.

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT.

Nat Genet. 2002 Dec;32(4):614-21. Epub 2002 Nov 4.

PMID:
12415268
46.

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.

Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR.

Nat Genet. 2002 Oct;32(2):267-72. Epub 2002 Sep 16.

PMID:
12244316
47.

Endemic polycythemia in Russia: mutation in the VHL gene.

Ang SO, Chen H, Gordeuk VR, Sergueeva AI, Polyakova LA, Miasnikova GY, Kralovics R, Stockton DW, Prchal JT.

Blood Cells Mol Dis. 2002 Jan-Feb;28(1):57-62.

PMID:
11987242
48.

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.

Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI.

Hum Genet. 2002 Apr;110(4):371-6. Epub 2002 Mar 14.

PMID:
11941488
49.

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N.

Am J Hum Genet. 2002 Apr;70(4):955-64. Epub 2002 Feb 26.

50.

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW.

Nat Genet. 2002 Feb;30(2):215-20. Epub 2002 Jan 22.

PMID:
11799392

Supplemental Content

Loading ...
Support Center