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Items: 1 to 50 of 347

1.

Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations.

Schuster J, Fatima A, Sobol M, Norradin FH, Laan L, Dahl N.

Stem Cell Res. 2019 Jul 31;39:101523. doi: 10.1016/j.scr.2019.101523. [Epub ahead of print]

2.

Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.

Schuster J, Sobol M, Fatima A, Khalfallah A, Laan L, Anderlid BM, Nordgren A, Dahl N.

Stem Cell Res. 2019 Jul 27;39:101518. doi: 10.1016/j.scr.2019.101518. [Epub ahead of print]

3.

Bevacizumab in the treatment of radiation injury for children with central nervous system tumors.

Dahl NA, Liu AK, Foreman NK, Widener M, Fenton LZ, Macy ME.

Childs Nerv Syst. 2019 Jul 31. doi: 10.1007/s00381-019-04304-y. [Epub ahead of print]

PMID:
31367784
4.

Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality.

Lam M, Moslem M, Bryois J, Pronk RJ, Uhlin E, Ellström ID, Laan L, Olive J, Morse R, Rönnholm H, Louhivuori L, Korol SV, Dahl N, Uhlén P, Anderlid BM, Kele M, Sullivan PF, Falk A.

Exp Cell Res. 2019 Jul 12:111469. doi: 10.1016/j.yexcr.2019.06.014. [Epub ahead of print]

5.

QT prolongation in patients with acute leukemia or high-risk myelodysplastic syndrome prescribed antifungal prophylaxis during chemotherapy-induced neutropenia.

Barreto JN, Cullen MW, Mara KC, Grove ME, Sierzchulski AG, Dahl NJ, Tosh PK, Dierkhising RA, Patnaik MM, Ackerman MJ.

Leuk Lymphoma. 2019 Jul 12:1-9. doi: 10.1080/10428194.2019.1639165. [Epub ahead of print]

PMID:
31298598
6.

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.

Zulfiqar S, Tariq M, Ali Z, Fatima A, Klar J, Abdullah U, Ali A, Ramzan S, He S, Zhang J, Khan A, Shah S, Khan S, Makhdoom EH, Schuster J, Dahl N, Baig SM.

J Clin Neurosci. 2019 Sep;67:19-23. doi: 10.1016/j.jocn.2019.06.039. Epub 2019 Jul 4.

PMID:
31281085
7.

Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations.

Schuster J, Fatima A, Schwarz F, Klar J, Laan L, Dahl N.

Stem Cell Res. 2019 Jul;38:101474. doi: 10.1016/j.scr.2019.101474. Epub 2019 May 30.

8.

Inherited glomerular diseases in the gilded age of genomic advancements.

Gulati A, Dahl N, Tufro A.

Pediatr Nephrol. 2019 May 3. doi: 10.1007/s00467-019-04266-y. [Epub ahead of print]

PMID:
31049720
9.

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.

Sobol M, Klar J, Laan L, Shahsavani M, Schuster J, Annerén G, Konzer A, Mi J, Bergquist J, Nordlund J, Hoeber J, Huss M, Falk A, Dahl N.

Mol Neurobiol. 2019 Apr 13. doi: 10.1007/s12035-019-1585-3. [Epub ahead of print]

PMID:
30989628
10.

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.

Zakaria M, Fatima A, Klar J, Wikström J, Abdullah U, Ali Z, Akram T, Tariq M, Ahmad H, Schuster J, Baig SM, Dahl N.

Hum Mutat. 2019 Jul;40(7):899-903. doi: 10.1002/humu.23755. Epub 2019 May 24.

PMID:
30927481
11.

Pediatric craniopharyngioma in association with familial adenomatous polyposis.

Dahl NA, Pratt D, Camelo-Piragua S, Kumar-Sinha C, Mody RJ, Septer S, Hankinson TC, Chinnaiyan AM, Koschmann C, Hoffman L.

Fam Cancer. 2019 Jul;18(3):327-330. doi: 10.1007/s10689-019-00126-8.

PMID:
30919136
12.

In Reply to 'TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features'.

Gulati A, Dahl N.

Am J Kidney Dis. 2019 Jun;73(6):893-894. doi: 10.1053/j.ajkd.2019.01.014. Epub 2019 Mar 4. No abstract available.

PMID:
30846257
13.

Ferumoxytol for iron deficiency anemia in patients undergoing hemodialysis. The FACT randomized controlled trial
.

Macdougall IC, Strauss WE, Dahl NV, Bernard K, Li Z.

Clin Nephrol. 2019 Apr;91(4):237-245. doi: 10.5414/CN109512.

14.

Simple renal cysts and bovine aortic arch: markers for aortic disease.

Brownstein AJ, Bin Mahmood SU, Saeyeldin A, Velasquez Mejia C, Zafar MA, Li Y, Rizzo JA, Dahl NK, Erben Y, Ziganshin BA, Elefteriades JA.

Open Heart. 2019 Jan 28;6(1):e000862. doi: 10.1136/openhrt-2018-000862. eCollection 2019.

15.

Revisiting racial differences in ESRD due to ADPKD in the United States.

Murphy EL, Dai F, Blount KL, Droher ML, Liberti L, Crews DC, Dahl NK.

BMC Nephrol. 2019 Feb 14;20(1):55. doi: 10.1186/s12882-019-1241-1.

16.

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics); Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE); Tourette Association of America International Consortium for Genetics (TAAICG), Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW.

Cell Rep. 2018 Dec 18;25(12):3544. doi: 10.1016/j.celrep.2018.12.024. No abstract available.

17.

HIV-Nef Protein Persists in the Lungs of Aviremic Patients with HIV and Induces Endothelial Cell Death.

Chelvanambi S, Bogatcheva NV, Bednorz M, Agarwal S, Maier B, Alves NJ, Li W, Syed F, Saber MM, Dahl N, Lu H, Day RB, Smith P, Jolicoeur P, Yu Q, Dhillon NK, Weissmann N, Twigg Iii HL, Clauss M.

Am J Respir Cell Mol Biol. 2019 Mar;60(3):357-366. doi: 10.1165/rcmb.2018-0089OC.

PMID:
30321057
18.

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics); Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE); Tourette Association of America International Consortium for Genetics (TAAICG), Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW.

Cell Rep. 2018 Sep 25;24(13):3441-3454.e12. doi: 10.1016/j.celrep.2018.08.082. Erratum in: Cell Rep. 2018 Dec 18;25(12):3544.

19.

Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.

Frykholm C, Klar J, Tomanovic T, Ameur A, Dahl N.

Eur J Hum Genet. 2018 Dec;26(12):1871-1874. doi: 10.1038/s41431-018-0256-6. Epub 2018 Sep 24.

PMID:
30250054
20.

A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan.

Chebib FT, Perrone RD, Chapman AB, Dahl NK, Harris PC, Mrug M, Mustafa RA, Rastogi A, Watnick T, Yu ASL, Torres VE.

J Am Soc Nephrol. 2018 Oct;29(10):2458-2470. doi: 10.1681/ASN.2018060590. Epub 2018 Sep 18.

PMID:
30228150
21.

Self-Neglect in Older Populations: A Description and Analysis of Current Approaches.

Dahl N, Ross A, Ong P.

J Aging Soc Policy. 2018 Aug 17:1-22. doi: 10.1080/08959420.2018.1500858. [Epub ahead of print]

PMID:
30118647
22.

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.

Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK.

Am J Kidney Dis. 2018 Dec;72(6):895-899. doi: 10.1053/j.ajkd.2018.05.006. Epub 2018 Jun 22.

PMID:
29941221
23.

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.

Höijer I, Tsai YC, Clark TA, Kotturi P, Dahl N, Stattin EL, Bondeson ML, Feuk L, Gyllensten U, Ameur A.

Hum Mutat. 2018 Sep;39(9):1262-1272. doi: 10.1002/humu.23580. Epub 2018 Jul 12.

24.
25.

Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease.

Murphy EL, Droher ML, DiMaio MS, Dahl NK.

Am J Kidney Dis. 2018 Dec;72(6):866-872. doi: 10.1053/j.ajkd.2018.01.048. Epub 2018 Mar 30.

PMID:
29606500
26.

Quantification of Urinary Protein Biomarkers of Autosomal Dominant Polycystic Kidney Disease by Parallel Reaction Monitoring.

Rauniyar N, Yu X, Cantley J, Voss EZ, Belcher J, Colangelo CM, Stone KL, Dahl N, Parikh C, Lam TT, Cantley LG.

Proteomics Clin Appl. 2018 Sep;12(5):e1700157. doi: 10.1002/prca.201700157. Epub 2018 May 2.

PMID:
29573172
27.

Significance of buoyancy in turbulence closure for computational fluid dynamics modelling of ultraviolet disinfection in maturation ponds.

Dahl NW, Woodfield PL, Simpson BAF, Lemckert CJ, Stratton HM.

Water Sci Technol. 2018 Mar;77(5-6):1372-1385. doi: 10.2166/wst.2018.012.

PMID:
29528325
28.

Semaphorin 7A in circulating regulatory T cells is increased in autosomal-dominant polycystic kidney disease and decreases with tolvaptan treatment.

Lee Y, Blount KL, Dai F, Thompson S, Scher JK, Bitterman S, Droher M, Herzog EL, Moeckel G, Karihaloo A, Dahl NK.

Clin Exp Nephrol. 2018 Aug;22(4):906-916. doi: 10.1007/s10157-018-1542-x. Epub 2018 Feb 16.

PMID:
29453607
29.

Efficacy and safety of IV ferumoxytol for iron deficiency anemia in patients with cancer.

Vadhan-Raj S, Dahl NV, Bernard K, Li Z, Strauss WE.

J Blood Med. 2017 Dec 7;8:199-209. doi: 10.2147/JBM.S138474. eCollection 2017.

30.

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Ali Z, Zulfiqar S, Klar J, Wikström J, Ullah F, Khan A, Abdullah U, Baig S, Dahl N.

BMC Med Genet. 2017 Dec 6;18(1):144. doi: 10.1186/s12881-017-0504-6.

31.

Cost-effectiveness analysis of intravenous ferumoxytol for the treatment of iron deficiency anemia in adult patients with non-dialysis-dependent chronic kidney disease in the USA.

Dahl NV, Kaper RF, Strauss WE, Corvino FA, Zivkovic M.

Clinicoecon Outcomes Res. 2017 Sep 20;9:557-567. doi: 10.2147/CEOR.S139950. eCollection 2017.

32.

An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis.

Shahsavani M, Pronk RJ, Falk R, Lam M, Moslem M, Linker SB, Salma J, Day K, Schuster J, Anderlid BM, Dahl N, Gage FH, Falk A.

Mol Psychiatry. 2018 Jul;23(7):1674-1684. doi: 10.1038/mp.2017.175. Epub 2017 Sep 19.

PMID:
28924182
33.

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.

Klar J, Piontek J, Milatz S, Tariq M, Jameel M, Breiderhoff T, Schuster J, Fatima A, Asif M, Sher M, Mäbert K, Fromm A, Baig SM, Günzel D, Dahl N.

PLoS Genet. 2017 Jul 7;13(7):e1006897. doi: 10.1371/journal.pgen.1006897. eCollection 2017 Jul.

34.

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.

Tariq M, Khan TN, Lundin L, Jameel M, Lönnerholm T, Baig SM, Dahl N, Klar J.

Clin Genet. 2018 Jan;93(1):182-186. doi: 10.1111/cge.13091. Epub 2017 Nov 21.

PMID:
28685811
35.

Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis.

Vichot AA, Zsengellér ZK, Shmukler BE, Adams ND, Dahl NK, Alper SL.

Clin Kidney J. 2017 Feb;10(1):135-140. doi: 10.1093/ckj/sfw074. Epub 2016 Aug 31.

36.

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Stattin EL, Henning P, Klar J, McDermott E, Stecksen-Blicks C, Sandström PE, Kellgren TG, Rydén P, Hallmans G, Lönnerholm T, Ameur A, Helfrich MH, Coxon FP, Dahl N, Wikström J, Lerner UH.

Sci Rep. 2017 Jun 7;7(1):3012. doi: 10.1038/s41598-017-02533-2.

37.

Chordoma Occurs in Young Children With Tuberous Sclerosis.

Dahl NA, Luebbert T, Loi M, Neuberger I, Handler MH, Kleinschmidt-DeMasters BK, Mulcahy Levy JM.

J Neuropathol Exp Neurol. 2017 Jun 1;76(6):418-423. doi: 10.1093/jnen/nlx032.

38.

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

Klar J, Ali Z, Farooq M, Khan K, Wikström J, Iqbal M, Zulfiqar S, Faryal S, Baig SM, Dahl N.

Eur J Hum Genet. 2017 Jun;25(7):848-853. doi: 10.1038/ejhg.2017.54. Epub 2017 May 10.

39.
40.

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.

Bergendal B, Norderyd J, Zhou X, Klar J, Dahl N.

BMC Med Genet. 2016 Nov 24;17(1):88.

41.

A practical model for sunlight disinfection of a subtropical maturation pond.

Dahl NW, Woodfield PL, Lemckert CJ, Stratton H, Roiko A.

Water Res. 2017 Jan 1;108:151-159. doi: 10.1016/j.watres.2016.10.072. Epub 2016 Oct 29.

PMID:
27871746
42.

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

Ali Z, Klar J, Jameel M, Khan K, Fatima A, Raininko R, Baig S, Dahl N.

J Neurol Sci. 2016 Dec 15;371:105-111. doi: 10.1016/j.jns.2016.10.032. Epub 2016 Oct 21.

PMID:
27871429
43.

Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions.

Kele M, Day K, Rönnholm H, Schuster J, Dahl N, Falk A.

Stem Cell Res. 2016 Nov;17(3):474-478. doi: 10.1016/j.scr.2016.09.028. Epub 2016 Sep 30.

44.

Ferumoxytol versus placebo in iron deficiency anemia: efficacy, safety, and quality of life in patients with gastrointestinal disorders.

Ford DC, Dahl NV, Strauss WE, Barish CF, Hetzel DJ, Bernard K, Li Z, Allen LF.

Clin Exp Gastroenterol. 2016 Jul 11;9:151-62. doi: 10.2147/CEG.S101473. eCollection 2016.

45.

Ferumoxytol versus iron sucrose treatment: a post-hoc analysis of randomized controlled trials in patients with varying renal function and iron deficiency anemia.

Strauss WE, Dahl NV, Li Z, Lau G, Allen LF.

BMC Hematol. 2016 Jul 26;16:20. doi: 10.1186/s12878-016-0060-x. eCollection 2016.

46.

Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association.

Dahl NA, Sheil A, Knapke S, Geller JI.

J Pediatr Hematol Oncol. 2016 Jul;38(5):e154-7. doi: 10.1097/MPH.0000000000000493.

PMID:
26840078
47.

Simple Renal Cysts as Markers of Thoracic Aortic Disease.

Ziganshin BA, Theodoropoulos P, Salloum MN, Zaza KJ, Tranquilli M, Mojibian HR, Dahl NK, Fang H, Rizzo JA, Elefteriades JA.

J Am Heart Assoc. 2016 Jan 8;5(1). pii: e002248. doi: 10.1161/JAHA.115.002248.

48.

Effect of the decrease in dialysate sodium in pediatric patients on chronic hemodialysis.

Marsenic O, Anderson M, Couloures KG, Hong WS, Kevin Hall E, Dahl N.

Hemodial Int. 2016 Apr;20(2):277-85. doi: 10.1111/hdi.12384. Epub 2015 Dec 14.

PMID:
26663617
49.

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM.

Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8.

PMID:
26647307
50.

Safety and efficacy of ferumoxytol for the episodic treatment of iron deficiency anemia in patients with a history of unsatisfactory oral iron therapy: Results of a phase III, open-label, 6-month extension study.

Vadhan-Raj S, Ford DC, Dahl NV, Bernard K, Li Z, Allen LF, Strauss WE.

Am J Hematol. 2016 Feb;91(2):E3-5. doi: 10.1002/ajh.24240. No abstract available.

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