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Hermansky-Pudlak syndrome: Mutation update.

Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR.

Hum Mutat. 2020 Mar;41(3):543-580. doi: 10.1002/humu.23968. Epub 2020 Jan 23.


Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases.

Huizing M, Yardeni T, Fuentes F, Malicdan MCV, Leoyklang P, Volkov A, Dekel B, Brede E, Blake J, Powell A, Chatrathi H, Anikster Y, Carrillo N, Gahl WA, Kopp JB.

Kidney Int Rep. 2019 Jun 25;4(10):1454-1462. doi: 10.1016/j.ekir.2019.06.012. eCollection 2019 Oct.


Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation.

Fang M, Xu X, Zhang M, Shi Y, Gu G, Liu W, Class B, Ciccone C, Gahl WA, Huizing M, Carrillo N, Wang AQ.

Biomed Chromatogr. 2020 Feb;34(2):e4735. doi: 10.1002/bmc.4735. Epub 2020 Jan 8.


The association between type of endocrine therapy and development of estrogen receptor-1 mutation(s) in patients with hormone-sensitive advanced breast cancer: A systematic review and meta-analysis of randomized and non-randomized trials.

Najim O, Seghers S, Sergoynne L, Van Gaver H, Papadimitriou K, Wouters K, Trinh XB, Huizing MT, Tjalma W.

Biochim Biophys Acta Rev Cancer. 2019 Dec;1872(2):188315. doi: 10.1016/j.bbcan.2019.188315. Epub 2019 Oct 21. Review.


Cardiogeneticsbank@UZA: A Collection of DNA, Tissues, and Cell Lines as a Translational Tool.

Alaerts M, van de Beek G, Luyckx I, Meester J, Schepers D, Verstraeten A, Saenen J, Van Craenenbroeck E, Goovaerts I, Rodrigus I, Laga S, Hendriks J, Goethals S, De Wilde A, Smits E, Jorens P, Huizing M, Van Laer L, Loeys B.

Front Med (Lausanne). 2019 Sep 6;6:198. doi: 10.3389/fmed.2019.00198. eCollection 2019.


Biobanking for Viral Hepatitis Research.

Ho E, Van Hees S, Goethals S, Smits E, Huizing M, Francque S, De Winter B, Michielsen P, Vanwolleghem T.

Front Med (Lausanne). 2019 Aug 20;6:183. doi: 10.3389/fmed.2019.00183. eCollection 2019.


Dutch Neonatal Intensive Care Nurses' Perceptions of Pulse Oximeter Saturation Target Limits for Preterm Infants.

Huizing MJ, Villamor-Martínez E, Meus S, de Jonge FM, Villamor E.

J Pediatr Nurs. 2019 Nov - Dec;49:e36-e41. doi: 10.1016/j.pedn.2019.08.005. Epub 2019 Aug 19.


The prevalence of estrogen receptor-1 mutation in advanced breast cancer: The estrogen receptor one study (EROS1).

Najim O, Huizing M, Papadimitriou K, Trinh XB, Pauwels P, Goethals S, Zwaenepoel K, Peterson K, Weyler J, Altintas S, van Dam P, Tjalma W.

Cancer Treat Res Commun. 2019;19:100123. doi: 10.1016/j.ctarc.2019.100123. Epub 2019 Feb 21.


Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR.

Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7.


GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.

Carrillo N, Malicdan MC, Huizing M.

Neurotherapeutics. 2018 Oct;15(4):900-914. doi: 10.1007/s13311-018-0671-y. Review.


The predictive value of sentinel node biopsy in early breast cancer after neo-adjuvant chemotherapy: A prospective study.

Najim O, Dockx Y, Huyghe I, van den Wyngaert T, Papadimitriou K, Tjalma WAA, Huizing MT.

Eur J Obstet Gynecol Reprod Biol. 2018 Oct;229:108-111. doi: 10.1016/j.ejogrb.2018.06.040. Epub 2018 Jun 28.


Progressive Compromise of Nouns and Action Verbs in Posterior Cortical Atrophy.

Steeb B, García-Cordero I, Huizing MC, Collazo L, Borovinsky G, Ferrari J, Cuitiño MM, Ibáñez A, Sedeño L, García AM.

Front Psychol. 2018 Aug 3;9:1345. doi: 10.3389/fpsyg.2018.01345. eCollection 2018.


Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.

McElvaney OJ, Huizing M, Gahl WA, O'Donovan P, Horan D, Logan PM, Reeves EP, McElvaney NG.

Thorax. 2018 Nov;73(11):1085-1088. doi: 10.1136/thoraxjnl-2018-211920. Epub 2018 Jun 25.


Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

Leoyklang P, Class B, Noguchi S, Gahl WA, Carrillo N, Nishino I, Huizing M, Malicdan MC.

Muscle Nerve. 2018 Aug;58(2):286-292. doi: 10.1002/mus.26135. Epub 2018 Apr 23.


Subcutaneous trastuzumab (Herceptin) versus intravenous trastuzumab for the treatment of patients with HER2-positive breast cancer: A time, motion and cost assessment study in a lean operating day care oncology unit.

Tjalma WAA, Van den Mooter T, Mertens T, Bastiaens V, Huizing MT, Papadimitriou K.

Eur J Obstet Gynecol Reprod Biol. 2018 Feb;221:46-51. doi: 10.1016/j.ejogrb.2017.12.006. Epub 2017 Dec 7.


Hepatic safety analysis of trabectedin: results of a pharmacokinetic study with trabectedin in patients with hepatic impairment and experience from a phase 3 clinical trial.

Calvo E, Azaro A, Rodon J, Dirix L, Huizing M, Senecal FM, LoRusso P, Yee L, Poggesi I, de Jong J, Triantos S, Park YC, Knoblauch RE, Parekh TV, Demetri GD, von Mehren M.

Invest New Drugs. 2018 Jun;36(3):476-486. doi: 10.1007/s10637-017-0546-9. Epub 2017 Nov 27.


Hermansky-Pudlak Syndrome.

Huizing M, Malicdan MCV, Gochuico BR, Gahl WA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2000 Jul 24 [updated 2017 Oct 26].


The exploding tumour on breast magnetic resonance imaging: an infected skin comedo.

Tjalma W, Huizing MT.

Ann R Coll Surg Engl. 2017 Nov;99(8):e221-e222. doi: 10.1308/rcsann.2017.0130. Epub 2017 Sep 15.


Reliability and Validity of a Smartphone-Paired Pulse Oximeter for Screening of Critical Congenital Heart Defects in Newborns.

Huizing MJ, Villamor-Martínez E, Chavagne IA, Vanagt WY, Spaanderman MAE, Villamor E.

Neonatology. 2017;112(4):324-329. doi: 10.1159/000477294. Epub 2017 Aug 3.


Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal V, Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV.

Mol Genet Genomic Med. 2017 Jun 14;5(4):410-417. doi: 10.1002/mgg3.300. eCollection 2017 Jul.


Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.

Xu X, Wang AQ, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S, McKew JC, Gahl WA, Huizing M, Carrillo N.

Mol Genet Metab. 2017 Sep;122(1-2):126-134. doi: 10.1016/j.ymgme.2017.04.010. Epub 2017 Apr 26.


Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9.

Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA.

Am J Hum Genet. 2017 May 4;100(5):837. doi: 10.1016/j.ajhg.2017.04.011. No abstract available.


Is the C242T Polymorphism of the CYBA Gene Linked with Oxidative Stress-Associated Complications of Prematurity?

Huizing MJ, Cavallaro G, Moonen RM, González-Luis GE, Mosca F, Vento M, Villamor E.

Antioxid Redox Signal. 2017 Dec 10;27(17):1432-1438. doi: 10.1089/ars.2017.7042. Epub 2017 May 8.


Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MCV, Gochuico BR.

Mol Genet Metab. 2017 Apr;120(4):378-383. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27.


Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M.

Hum Genet. 2017 Apr;136(4):399-408. doi: 10.1007/s00439-017-1765-z. Epub 2017 Feb 20.


Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program, Gahl WA, Huizing M, Smith ACM.

Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17.


Neurologic involvement in patients with atypical Chediak-Higashi disease.

Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C.

Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622.


A clitoral verrucous carcinoma in an area of lichen planus has aggressive features.

Tjalma WA, Siozopoulou V, Huizing MT.

World J Surg Oncol. 2017 Jan 6;15(1):7. doi: 10.1186/s12957-016-1069-0.


Neoadjuvant systemic therapy in breast cancer: Challenges and uncertainties.

Van de Wiel M, Dockx Y, Van den Wyngaert T, Stroobants S, Tjalma WAA, Huizing MT.

Eur J Obstet Gynecol Reprod Biol. 2017 Mar;210:144-156. doi: 10.1016/j.ejogrb.2016.12.014. Epub 2016 Dec 14. Review.


Safety and efficacy of single-agent bevacizumab-containing therapy in elderly patients with platinum-resistant recurrent ovarian cancer: Subgroup analysis of the randomised phase III AURELIA trial.

Sorio R, Roemer-Becuwe C, Hilpert F, Gibbs E, García Y, Kaern J, Huizing M, Witteveen P, Zagouri F, Coeffic D, Lück HJ, González-Martín A, Kristensen G, Levaché CB, Lee CK, Gebski V, Pujade-Lauraine E; AURELIA Investigators.

Gynecol Oncol. 2017 Jan;144(1):65-71. doi: 10.1016/j.ygyno.2016.11.006. Epub 2016 Nov 18.


Pulse oximeter saturation target limits for preterm infants: a survey among European neonatal intensive care units.

Huizing MJ, Villamor-Martínez E, Vento M, Villamor E.

Eur J Pediatr. 2017 Jan;176(1):51-56. doi: 10.1007/s00431-016-2804-9. Epub 2016 Nov 16.


Association between the p.Thr1406Asn polymorphism of the carbamoyl-phosphate synthetase 1 gene and necrotizing enterocolitis: A prospective multicenter study.

Moonen RM, Cavallaro G, Huizing MJ, González-Luis GE, Mosca F, Villamor E.

Sci Rep. 2016 Nov 11;6:36999. doi: 10.1038/srep36999.


Preoperative ultrasound staging of the axilla make's peroperative examination of the sentinel node redundant in breast cancer: saving tissue, time and money.

Van Berckelaer C, Huizing M, Van Goethem M, Vervaecke A, Papadimitriou K, Verslegers I, Trinh BX, Van Dam P, Altintas S, Van den Wyngaert T, Huyghe I, Siozopoulou V, Tjalma WA.

Eur J Obstet Gynecol Reprod Biol. 2016 Nov;206:164-171. doi: 10.1016/j.ejogrb.2016.09.006. Epub 2016 Sep 20.


Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing, Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC.

Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12.


Poor concordance between CA-125 and RECIST at the time of disease progression in patients with platinum-resistant ovarian cancer: analysis of the AURELIA trial.

Lindemann K, Kristensen G, Mirza MR, Davies L, Hilpert F, Romero I, Ayhan A, Burges A, Rubio MJ, Raspagliesi F, Huizing M, Creemers GJ, Lykka M, Lee CK, Gebski V, Pujade-Lauraine E.

Ann Oncol. 2016 Aug;27(8):1505-10. doi: 10.1093/annonc/mdw238. Epub 2016 Jul 11.


Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

Yeetong P, Vilboux T, Ciccone C, Boulier K, Schnur RE, Gahl WA, Huizing M, Laje G, Smith AC.

Am J Med Genet A. 2016 Sep;170(9):2383-8. doi: 10.1002/ajmg.a.37602. Epub 2016 Jun 17.


New observation of sialuria prompts detection of liver tumor in previously reported patient.

Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, Wood T, Friez MJ, Huizing M, Stevenson RE.

Mol Genet Metab. 2016 Jun;118(2):92-9. doi: 10.1016/j.ymgme.2016.04.004. Epub 2016 Apr 16.


Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

Vilboux T, Malicdan MC, Chang YM, Guo J, Zerfas PM, Stephen J, Cullinane AR, Bryant J, Fischer R, Brooks BP, Zein WM, Wiggs EA, Zalewski CK, Poretti A, Bryan MM, Vemulapalli M, Mullikin JC, Kirby M, Anderson SM; NISC Comparative Sequencing Program, Huizing M, Toro C, Gahl WA, Gunay-Aygun M.

J Med Genet. 2016 May;53(5):318-29. doi: 10.1136/jmedgenet-2015-103416. Epub 2016 Jan 13.


Neurologic involvement in patients with atypical Chediak-Higashi disease.

Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C.

Neurology. 2016 Apr 5;86(14):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Erratum in: Neurology. 2017 Feb 14;88(7):720. Neurology. 2017 Feb 14;88(7):721. Corrected and republished in: Neurology. 2017 Feb 14;88(7):e57-e65.


In silico pathway analysis in cervical carcinoma reveals potential new targets for treatment.

van Dam PA, van Dam PJ, Rolfo C, Giallombardo M, van Berckelaer C, Trinh XB, Altintas S, Huizing M, Papadimitriou K, Tjalma WA, van Laere S.

Oncotarget. 2016 Jan 19;7(3):2780-95. doi: 10.18632/oncotarget.6667.


Molecular imaging as a tool to investigate heterogeneity of advanced HER2-positive breast cancer and to predict patient outcome under trastuzumab emtansine (T-DM1): the ZEPHIR trial.

Gebhart G, Lamberts LE, Wimana Z, Garcia C, Emonts P, Ameye L, Stroobants S, Huizing M, Aftimos P, Tol J, Oyen WJ, Vugts DJ, Hoekstra OS, Schröder CP, Menke-van der Houven van Oordt CW, Guiot T, Brouwers AH, Awada A, de Vries EG, Flamen P.

Ann Oncol. 2016 Apr;27(4):619-24. doi: 10.1093/annonc/mdv577. Epub 2015 Nov 23.


Quantitative hydrophilic interaction chromatography-mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasma.

Shi Y, Xu X, Fang M, Zhang M, Li Y, Gillespie B, Yorke S, Yang N, McKew JC, Gahl WA, Huizing M, Carrillo-Carrasco N, Wang AQ.

J Chromatogr B Analyt Technol Biomed Life Sci. 2015 Sep 1;1000:105-11. doi: 10.1016/j.jchromb.2015.07.018. Epub 2015 Jul 17.


Phase II study of weekly paclitaxel/carboplatin in combination with prophylactic G-CSF in the treatment of gynecologic cancers: A study in 108 patients by the Belgian Gynaecological Oncology Group.

Vergote I, Debruyne P, Kridelka F, Berteloot P, Amant F, Honhon B, Lybaert W, Leunen K, Geldhof K, Verhoeven D, Forget F, Vuylsteke P, D'Hondt L, Huizing M, Van den Bulck H, Laenen A.

Gynecol Oncol. 2015 Aug;138(2):278-84. doi: 10.1016/j.ygyno.2015.05.042. Epub 2015 Jun 4.


Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-140. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1.


Incorporating anti-VEGF pathway therapy as a continuum of care in metastatic colorectal cancer.

Papadimitriou K, Rolfo C, Dewaele E, Van De Wiel M, Van den Brande J, Altintas S, Huizing M, Specenier P, Peeters M.

Curr Treat Options Oncol. 2015 Apr;16(4):18. doi: 10.1007/s11864-015-0333-9. Review.


Current view on ductal carcinoma in situ and importance of the margin thresholds: A review.

Van Cleef A, Altintas S, Huizing M, Papadimitriou K, Van Dam P, Tjalma W.

Facts Views Vis Obgyn. 2014;6(4):210-8. Review.


The socio-economical impact of intravenous (IV) versus subcutaneous (SC) administration of trastuzumab: future prospectives.

Papadmitriou K, Trinh XB, Altintas S, Van Dam PA, Huizing MT, Tjalma WA.

Facts Views Vis Obgyn. 2015;7(3):176-80.


Plasma levels of dimethylarginines in preterm very low birth weight neonates: its relation with perinatal factors and short-term outcome.

Moonen RM, Huizing MJ, Cavallaro G, González-Luis GE, Bas-Suárez P, Bakker JA, Villamor E.

Int J Mol Sci. 2014 Dec 23;16(1):19-39. doi: 10.3390/ijms16010019.

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