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Items: 1 to 50 of 151

1.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S.

Genet Med. 2019 Aug 29. doi: 10.1038/s41436-019-0613-z. [Epub ahead of print]

PMID:
31462754
2.

A logic model development for an adolescent based intervention to improve benefits from Therapeutic Residential Care (TRC).

Coll KM, Sawyer S, Scholl S, Hauser N.

Eval Program Plann. 2019 Oct;76:101678. doi: 10.1016/j.evalprogplan.2019.101678. Epub 2019 Jun 29.

PMID:
31279850
3.

EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.

Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S, Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D.

Neuropediatrics. 2019 Aug;50(4):257-261. doi: 10.1055/s-0039-1692129. Epub 2019 Jun 21.

PMID:
31226715
4.

Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause.

Bodian DL, Vilboux T, Hauser NS.

Allergy Asthma Clin Immunol. 2019 May 16;15:32. doi: 10.1186/s13223-019-0346-1. eCollection 2019.

5.

Pilot of urgent care center evaluation for acute coronary syndrome.

Radecki RP, Foley KF, Elzinga TS, Horak CP, Gant TE, Papp HM, Morris AJ, Hauser NR, Ertz-Berger BL.

Am J Manag Care. 2019 May 1;25(5):e160-e164.

6.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Maljevic S, Keren B, Aung YH, Forster IC, Mignot C, Buratti J, Lafitte A, Freihuber C, Rodan LH, Bergin A, Hubert L, Poirier K, Munnich A, Besmond C, Hauser N, Miller R, McWalter K, Nabbout R, Héron D, Leguern E, Depienne C, Petrou S, Nava C.

Brain. 2019 May 1;142(5):e15. doi: 10.1093/brain/awz079. No abstract available.

PMID:
31032849
7.

A case study of atypical Larsen syndrome with absent hallmark joint dislocations.

Kodra N, Diamonstein C, Hauser NS.

Mol Genet Genomic Med. 2019 May;7(5):e648. doi: 10.1002/mgg3.648. Epub 2019 Mar 27.

8.

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants.

Kane MS, Diamonstein CJ, Hauser N, Deeken JF, Niederhuber JE, Vilboux T.

Genes Dis. 2019 Jan 7;6(1):56-67. doi: 10.1016/j.gendis.2018.12.004. eCollection 2019 Mar.

9.

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.

Brown M, Ashcraft P, Arning E, Bottiglieri T, McClintock W, Giancola F, Lieberman D, Hauser NS, Miller R, Roullet JB, Pearl P, Gibson KM.

Mol Genet Genomic Med. 2019 May;7(5):e629. doi: 10.1002/mgg3.629. Epub 2019 Mar 4.

10.

Rapidly growing, multifocal, benign choroid plexus tumor in an infant: case report.

Misiolek KA, Osborn ZG, Hauser N, Thomas D, Goodman JF, Fulkerson DH.

J Neurosurg Pediatr. 2019 Feb 22:1-6. doi: 10.3171/2018.12.PEDS18453. [Epub ahead of print]

PMID:
30797210
11.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M.

J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28.

12.

Detecting Reach to Grasp Activities using Motion and Muscle Activation Data.

Hauser N, Wade E.

Conf Proc IEEE Eng Med Biol Soc. 2018 Jul;2018:3264-3267. doi: 10.1109/EMBC.2018.8512937.

PMID:
30441088
13.

Preoperative anaemia and clinical outcomes in the South African Surgical Outcomes Study.

Marsicano D, Hauser N, Roodt F, Cloete E, Conradie W, Morford V, Nel D, Bishop DG, Madiba TE, Biccard On Behalf Of The South African Surgical Outcomes Study Investigators BM.

S Afr Med J. 2018 Oct 2;108(10):839-846. doi: 10.7196/SAMJ.2018.v108i10.13148.

14.

Transoesophageal echocardiography (TOE): contra-indications, complications and safety of perioperative TOE

Hauser ND, Swanevelder J.

Echo Res Pract. 2018 Dec 1;5(4):R101-R113. doi: 10.1530/ERP-18-0047.

15.

Pitfalls of clinical exome and gene panel testing: alternative transcripts.

Bodian DL, Kothiyal P, Hauser NS.

Genet Med. 2019 May;21(5):1240-1245. doi: 10.1038/s41436-018-0319-7. Epub 2018 Oct 8.

PMID:
30293991
16.

Corrigendum to "High on Cannabis and Calcineurin Inhibitors: A Word of Warning in an Era of Legalized Marijuana".

Hauser N, Sahai T, Richards R, Roberts T.

Case Rep Transplant. 2018 Sep 6;2018:7095846. doi: 10.1155/2018/7095846. eCollection 2018.

17.

Surgical Management of Peyronie's Disease.

Patel P, Hauser N.

Eur Urol Focus. 2018 Apr;4(3):304-306. doi: 10.1016/j.euf.2018.08.026. Epub 2018 Sep 8.

PMID:
30206002
18.

Oncoplastic Breast Consortium consensus conference on nipple-sparing mastectomy.

Weber WP, Haug M, Kurzeder C, Bjelic-Radisic V, Koller R, Reitsamer R, Fitzal F, Biazus J, Brenelli F, Urban C, Paulinelli RR, Blohmer JU, Heil J, Hoffmann J, Matrai Z, Catanuto G, Galimberti V, Gentilini O, Barry M, Hadar T, Allweis TM, Olsha O, Cardoso MJ, Gouveia PF, Rubio IT, de Boniface J, Svensjö T, Bucher S, Dubsky P, Farhadi J, Fehr MK, Fulco I, Ganz-Blättler U, Günthert A, Harder Y, Hauser N, Kappos EA, Knauer M, Landin J, Mechera R, Meani F, Montagna G, Ritter M, Saccilotto R, Schwab FD, Steffens D, Tausch C, Zeindler J, Soysal SD, Lohsiriwat V, Kovacs T, Tansley A, Wyld L, Romics L, El-Tamer M, Pusic AL, Sacchini V, Gnant M.

Breast Cancer Res Treat. 2018 Dec;172(3):523-537. doi: 10.1007/s10549-018-4937-1. Epub 2018 Sep 4. Review.

19.

Trans-oesophageal echocardiography (TOE): contra-indications, complications and safety of perioperative TOE.

Hauser ND, Swanevelder J.

Echo Res Pract. 2018 Aug 11. pii: ERP-18-0047. doi: 10.1530/ERP-18-0047. [Epub ahead of print] Review.

20.

Rare but not forgotten: A case of meningitis due to ceftriaxone-resistant Streptococcus pneumoniae.

Hauser N, Cervera-Hernandez ME, Lonks J, Zaidi N.

IDCases. 2018 Jan 31;11:73. doi: 10.1016/j.idcr.2018.01.008. eCollection 2018.

21.

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures.

Bodian DL, Schreiber JM, Vilboux T, Khromykh A, Hauser NS.

Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002360. doi: 10.1101/mcs.a002360. Print 2018 Jun.

22.

Nursing genetics and genomics: The International Society of Nurses in Genetics (ISONG) survey.

Hickey KT, Taylor JY, Barr TL, Hauser NR, Jia H, Riga TC, Katapodi M.

Nurse Educ Today. 2018 Apr;63:12-17. doi: 10.1016/j.nedt.2018.01.002. Epub 2018 Jan 12.

23.

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Hauser NS, Solomon BD, Vilboux T, Khromykh A, Baveja R, Bodian DL.

Mol Genet Genomic Med. 2018 Mar;6(2):200-212. doi: 10.1002/mgg3.357. Epub 2018 Jan 25.

24.

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD.

Mitochondrion. 2019 Jan;44:58-64. doi: 10.1016/j.mito.2018.01.001. Epub 2018 Jan 4.

PMID:
29307858
25.

Evaluating the Utility of mHealth ECG Heart Monitoring for the Detection and Management of Atrial Fibrillation in Clinical Practice.

T Hickey K, B Biviano A, Garan H, Sciacca RR, Riga T, Warren K, Frulla AP, Hauser NR, Wang DY, Whang W.

J Atr Fibrillation. 2017 Feb 28;9(5):1546. doi: 10.4022/jafib.1546. eCollection 2017 Feb-Mar.

26.

Severe bilateral cerebellar edema from ingestion of ketamine: case report.

Villelli N, Hauser N, Gianaris T, Froberg BA, Fulkerson DH.

J Neurosurg Pediatr. 2017 Oct;20(4):393-396. doi: 10.3171/2017.5.PEDS16695. Epub 2017 Aug 15.

PMID:
28806884
27.

A case of Klebsiella oxytoca endocarditis in an intravenous drug user.

Hauser N, Tanner E, Keuroghlian M, Koduri L.

IDCases. 2017 Jun 27;9:77-78. doi: 10.1016/j.idcr.2017.03.003. eCollection 2017.

28.

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

Bodian DL, Vilboux T, Hourigan SK, Jenevein CL, Mani H, Kent KC, Khromykh A, Solomon BD, Hauser NS.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002055. doi: 10.1101/mcs.a002055. Print 2017 Nov.

29.

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K.

Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29.

PMID:
28661489
30.

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.

Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, Klein E, Black A, Kane MS, Iyer RK, Niederhuber JE, Solomon BD.

Genet Med. 2017 Dec;19(12):1367-1375. doi: 10.1038/gim.2017.57. Epub 2017 Jun 15.

PMID:
28617419
31.

Robotic-Assisted Abdomino-perineal Vesicourethral Anastomotic Reconstruction for 4.5 Centimeter Post-prostatectomy Stricture.

Dinerman BF, Hauser NJ, Hu JC, Purohit RS.

Urol Case Rep. 2017 May 31;14:1-2. doi: 10.1016/j.eucr.2017.05.005. eCollection 2017 Sep.

32.

First international consensus conference on standardization of oncoplastic breast conserving surgery.

Weber WP, Soysal SD, El-Tamer M, Sacchini V, Knauer M, Tausch C, Hauser N, Günthert A, Harder Y, Kappos EA, Schwab F, Fitzal F, Dubsky P, Bjelic-Radisic V, Reitsamer R, Koller R, Heil J, Hahn M, Blohmer JU, Hoffmann J, Solbach C, Heitmann C, Gerber B, Haug M, Kurzeder C.

Breast Cancer Res Treat. 2017 Aug;165(1):139-149. doi: 10.1007/s10549-017-4314-5. Epub 2017 Jun 3.

PMID:
28578506
33.

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis.

Raval DB, Cusmano-Ozog KP, Ayyub O, Jenevein C, Kofman LH, Lanpher B, Hauser N, Regier DS.

Mol Genet Metab Rep. 2016 Dec 9;10:8-10. eCollection 2017 Mar.

34.

High on Cannabis and Calcineurin Inhibitors: A Word of Warning in an Era of Legalized Marijuana.

Hauser N, Sahai T, Richards R, Roberts T.

Case Rep Transplant. 2016;2016:4028492. doi: 10.1155/2016/4028492. Epub 2016 Aug 9. Erratum in: Case Rep Transplant. 2018 Sep 6;2018:7095846.

35.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J; University of Washington Center for Mendelian Genomics, Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J; Deciphering Developmental Disorders Study, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE.

Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18.

36.

A case of African tick-bite fever in a returning traveler.

Hauser N, Arzomand Z, Fournier J, Breen C, Jamali L, Cossman J, Tandon R.

IDCases. 2016 Jul 25;5:78-9. doi: 10.1016/j.idcr.2016.07.004. eCollection 2016. No abstract available.

37.

A single-center randomized, controlled trial investigating the efficacy of a mHealth ECG technology intervention to improve the detection of atrial fibrillation: the iHEART study protocol.

Hickey KT, Hauser NR, Valente LE, Riga TC, Frulla AP, Masterson Creber R, Whang W, Garan H, Jia H, Sciacca RR, Wang DY.

BMC Cardiovasc Disord. 2016 Jul 16;16:152. doi: 10.1186/s12872-016-0327-y.

38.

Clinical and gender differences in heart transplant recipients in the NEW HEART study.

Hickey KT, Doering LV, Chen B, Carter EV, Sciacca RR, Pickham D, Castillo C, Hauser NR, Drew BJ.

Eur J Cardiovasc Nurs. 2017 Mar;16(3):222-229. doi: 10.1177/1474515116651178. Epub 2016 Jul 8.

39.

Correspondence: Reply to 'Quantitative evaluation of X-ray dark-field images for microcalcification analysis in mammography'.

Wang Z, Hauser N, Singer G, Trippel M, Kubik-Huch RA, Schneider CW, Stampanoni M.

Nat Commun. 2016 Apr 22;7:10868. doi: 10.1038/ncomms10868. No abstract available.

40.

A time and motion study of subcutaneous versus intravenous trastuzumab in patients with HER2-positive early breast cancer.

De Cock E, Pivot X, Hauser N, Verma S, Kritikou P, Millar D, Knoop A.

Cancer Med. 2016 Mar;5(3):389-97. doi: 10.1002/cam4.573. Epub 2016 Jan 25.

41.

S-Trifluoromethylation of Thiols by Hypervalent Iodine Reagents: A Joint Experimental and Computational Study.

Sala O, Santschi N, Jungen S, Lüthi HP, Iannuzzi M, Hauser N, Togni A.

Chemistry. 2016 Jan 26;22(5):1704-13. doi: 10.1002/chem.201503774. Epub 2016 Jan 7.

PMID:
26742657
42.

Trends in surgical management and pre-operative urodynamics in female medicare beneficiaries with mixed incontinence.

Chughtai B, Hauser N, Anger J, Asfaw T, Laor L, Mao J, Lee R, Te A, Kaplan S, Sedrakyan A.

Neurourol Urodyn. 2017 Feb;36(2):422-425. doi: 10.1002/nau.22946. Epub 2015 Dec 17.

PMID:
26678948
43.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, Folk L, Retterer K, Monaghan KG, Chung WK.

Neurogenetics. 2016 Jan;17(1):43-9. doi: 10.1007/s10048-015-0466-9. Epub 2015 Nov 17.

44.

Functional and Structural Details about the Fabella: What the Important Stabilizer Looks Like in the Central European Population.

Hauser NH, Hoechel S, Toranelli M, Klaws J, Müller-Gerbl M.

Biomed Res Int. 2015;2015:343728. doi: 10.1155/2015/343728. Epub 2015 Aug 27.

45.

Early Child Social-Emotional Problems and Child Obesity: Exploring the Protective Role of a Primary Care-Based General Parenting Intervention.

Gross RS, Briggs RD, Hershberg RS, Silver EJ, Velazco NK, Hauser NR, Racine AD.

J Dev Behav Pediatr. 2015 Oct;36(8):594-604. doi: 10.1097/DBP.0000000000000212.

PMID:
26375801
46.

Cepacia Syndrome in a Non-Cystic Fibrosis Patient.

Hauser N, Orsini J.

Case Rep Infect Dis. 2015;2015:537627. doi: 10.1155/2015/537627. Epub 2015 Aug 18.

47.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M.

J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24.

48.

Visceral Kaposi's Sarcoma Presenting as Upper Gastrointestinal Bleeding.

Hauser N, McKenzie D, Fonseca X, Orsini J.

Case Rep Gastrointest Med. 2015;2015:438973. doi: 10.1155/2015/438973. Epub 2015 May 6.

49.

PET/MRI and PET/CT in advanced gynaecological tumours: initial experience and comparison.

Queiroz MA, Kubik-Huch RA, Hauser N, Freiwald-Chilla B, von Schulthess G, Froehlich JM, Veit-Haibach P.

Eur Radiol. 2015 Aug;25(8):2222-30. doi: 10.1007/s00330-015-3657-8. Epub 2015 May 29.

PMID:
26017734
50.

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Ktena YP, Paul SM, Hauser NS, Sloan JL, Gropman A, Manoli I, Venditti CP.

Am J Med Genet A. 2015 Sep;167A(9):2075-84. doi: 10.1002/ajmg.a.37127. Epub 2015 May 10.

PMID:
25959030

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