Works matching AU Marjan Huizing

Results: 54

Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy.

Published in:

Journal of Gene Medicine, 2010, v. 12, n. 5, p. 403, doi. 10.1002/jgm.1450

By:

Nemunaitis, Gregory;
Maples, Phillip B.;
Jay, Chris;
Gahl, William A.;
Huizing, Marjan;
Poling, Justin;
Tong, Alex W.;
Phadke, Anagha P.;
Pappen, Beena O.;
Bedell, Cynthia;
Templeton, Nancy S.;
Kuhn, Joseph;
Senzer, Neil;
Nemunaitis, John

Publication type:

Article

Hermansky–Pudlak syndrome: Mutation update.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 543, doi. 10.1002/humu.23968

By:

Huizing, Marjan;
Malicdan, May C. V.;
Wang, Jennifer A.;
Pri‐Chen, Hadass;
Hess, Richard A.;
Fischer, Roxanne;
O'Brien, Kevin J.;
Merideth, Melissa A.;
Gahl, William A.;
Gochuico, Bernadette R.

Publication type:

Article

Mutation Update for GNE Gene Variants Associated with GNE Myopathy.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 915, doi. 10.1002/humu.22583

By:

Celeste, Frank V.;
Vilboux, Thierry;
Ciccone, Carla;
Dios, John Karl;
Malicdan, May Christine V.;
Leoyklang, Petcharat;
McKew, John C.;
Gahl, William A.;
Carrillo‐Carrasco, Nuria;
Huizing, Marjan

Publication type:

Article

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 827, doi. 10.1002/humu.22315

By:

Simeonov, Dimitre R.;
Wang, Xinjing;
Wang, Chen;
Sergeev, Yuri;
Dolinska, Monika;
Bower, Matthew;
Fischer, Roxanne;
Winer, David;
Dubrovsky, Genia;
Balog, Joan Z.;
Huizing, Marjan;
Hart, Rachel;
Zein, Wadih M.;
Gahl, William A.;
Brooks, Brian P.;
Adams, David R.

Publication type:

Article

Mutation spectrum of homogentisic acid oxidase ( HGD) in alkaptonuria.

Published in:

2009

By:

Vilboux, Thierry;
Kayser, Michael;
Introne, Wendy;
Suwannarat, Pim;
Bernardini, Isa;
Fischer, Roxanne;
O'Brien, Kevin;
Kleta, Robert;
Huizing, Marjan;
Gahl, William A.

Publication type:

Other

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1158, doi. 10.1002/humu.9463

By:

Schreyer-Shafir, Nira;
Huizing, Marjan;
Anikster, Yair;
Nusinker, Ziva;
Bejarano-Achache, Idit;
Maftzir, Genia;
Resnik, Luba;
Helip-Wooley, Amanda;
Westbroek, Wendy;
Gradstein, Libe;
Rosenmann, Ada;
Blumenfeld, Anat

Publication type:

Article

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 482, doi. 10.1002/humu.9097

By:

Hermos, Christina R.;
Huizing, Marjan;
Kaiser-Kupfer, Muriel I.;
Gahl, William A.

Publication type:

Article

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

Published in:

2019

By:

Power, Bradley;
Ferreira, Carlos R.;
Chen, Dong;
Zein, Wadih M.;
O'Brien, Kevin J.;
Introne, Wendy J.;
Stephen, Joshi;
Gahl, William A.;
Huizing, Marjan;
Malicdan, May Christine V.;
Adams, David R.;
Gochuico, Bernadette R.

Publication type:

journal article

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Published in:

Nature Genetics, 2011, v. 43, n. 9, p. 883, doi. 10.1038/ng.908

By:

Sloan, Jennifer L.;
Johnston, Jennifer J.;
Manoli, Irini;
Chandler, Randy J.;
Krause, Caitlin;
Carrillo-Carrasco, Nuria;
Chandrasekaran, Suma D.;
Sysol, Justin R.;
O'Brien, Kevin;
Hauser, Natalie S.;
Sapp, Julie C.;
Dorward, Heidi M.;
Huizing, Marjan;
Barshop, Bruce A.;
Berry, Susan A.;
James, Philip M.;
Champaigne, Neena L.;
de Lonlay, Pascale;
Valayannopoulos, Vassilli;
Geschwind, Michael D.

Publication type:

Article

Mutation of a new gene causes a unique form of Hermansky?Pudlak syndrome in a genetic isolate of central Puerto Rico.

Published in:

Nature Genetics, 2001, v. 28, n. 4, p. 376, doi. 10.1038/ng576

By:

Anikster, Yair;
Huizing, Marjan;
White, James;
Shevchenko, Yuriy O.;
Fitzpatrick, Diana L.;
Touchman, Jeffrey W.;
Compton, John G.;
Bale, Sherri J.;
Swank, Richard T.;
Gahl, William A.;
Toro, Jorge R.

Publication type:

Article

Dysregulation of Galectin-3.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2014, v. 50, n. 3, p. 605, doi. 10.1165/rcmb.2013-0025OC

By:

Cullinane, Andrew R.;
Yeager, Caroline;
Dorward, Heidi;
Carmona-Rivera, Carmelo;
Hai Ping Wu;
Moss, Joel;
O'Brien, Kevin J.;
Nathan, Steven D.;
Meyer, Keith C.;
Rosas, Ivan O.;
Helip-Wooley, Amanda;
Marjan Huizing;
Gahl, William A.;
Gochuico, Bernadette R.

Publication type:

Article

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022861

By:

Vilboux, Thierry;
Ciccone, Carla;
Blancato, Jan K.;
Cox, Gerald F.;
Deshpande, Charu;
Introne, Wendy J.;
Gahl, William A.;
Smith, Ann C. M.;
Huizing, Marjan

Publication type:

Article

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

Published in:

FASEB Journal, 2008, v. 22, n. 11, p. 3846, doi. 10.1096/fj.08-110890

By:

Klootwijk, Riko D.;
Savelkoul, Paul J. M.;
Ciccone, Carla;
Manoli, Irini;
Caplen, Natasha J.;
Krasnewich, Donna M.;
Gahl, William A.;
Huizing, Marjan

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2383, doi. 10.1002/ajmg.a.37602

By:

Yeetong, Patra;
Vilboux, Thierry;
Ciccone, Carla;
Boulier, Kristin;
Schnur, Rhonda E.;
Gahl, William A.;
Huizing, Marjan;
Laje, Gonzalo;
Smith, Ann C. M.

Publication type:

Article

Genetic variants associated with Hermansky-Pudlak syndrome.

Published in:

Platelets, 2020, v. 31, n. 4, p. 544, doi. 10.1080/09537104.2019.1663810

By:

Merideth, Melissa A.;
Introne, Wendy J.;
Wang, Jennifer A.;
O'Brien, Kevin J.;
Huizing, Marjan;
Gochuico, Bernadette R.

Publication type:

Article

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 136, doi. 10.1093/brain/awn296

By:

Saskia B. Wortmann;
Richard J. T. Rodenburg;
An Jonckheere;
Maaike C. de Vries;
Marjan Huizing;
Katrin Heldt;
Lambert P. van den Heuvel;
Udo Wendel;
Leo A. Kluijtmans;
Udo F. Engelke;
Ron A. Wevers;
Jan A. M. Smeitink;
Eva Morava

Publication type:

Article

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Published in:

2007

By:

Galeano, Belinda;
Klootwijk, Riko;
Manoli, Irini;
MaoSen Sun;
Ciccone, Carla;
Darvish, Daniel;
Starost, Matthew F.;
Zerfas, Patricia M.;
Hoffmann, Victoria J.;
Hoogstraten-Miller, Shelley;
Krasnewich, Donna M.;
Gahl, William A.;
Huizing, Marjan;
Sun, MaoSen

Publication type:

journal article

Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.

Published in:

Glycoconjugate Journal, 2013, v. 30, n. 6, p. 609, doi. 10.1007/s10719-012-9459-1

By:

Yardeni, Tal;
Jacobs, Katherine;
Niethamer, Terren;
Ciccone, Carla;
Anikster, Yair;
Kurochkina, Natalya;
Gahl, William;
Huizing, Marjan

Publication type:

Article

Pregnancy in autosomal recessive polycystic kidney disease.

Published in:

2015

By:

Banks, Nicole;
Bryant, Joy;
Fischer, Roxanne;
Huizing, Marjan;
Gahl, William;
Gunay-Aygun, Meral

Publication type:

Report

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.

Published in:

Human Genetics, 2003, v. 113, n. 1, p. 10, doi. 10.1007/s00439-003-0933-5

By:

Anderson, Paul D.;
Huizing, Marjan;
Claassen, David A.;
White, James;
Gahl, William A.

Publication type:

Article

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 370, doi. 10.1007/s004390051053

By:

Huizing, Marjan;
Anikster, Yair;
Gahl, WilliamA.

Publication type:

Article

Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome.

Published in:

2010

By:

Morrone, Kerry;
Yanhua Wang;
Huizing, Marjan;
Sutton, Elie;
White, James G.;
Gahl, William A.;
Moody, Karen

Publication type:

Case Study

Free sialic acid storage disease without sialuria.

Published in:

Annals of Neurology, 2009, v. 65, n. 6, p. 753, doi. 10.1002/ana.21624

By:

Mochel, Fanny;
Yang, Bingzhi;
Barritault, Julie;
Thompson, Jerry N.;
Engelke, Udo F. H.;
McNeill, Nathan H.;
Benko, William S.;
Kaneski, Christine R.;
Adams, David R.;
Tsokos, Maria;
Abu-Asab, Mones;
Huizing, Marjan;
Seguin, Francois;
Wevers, Ron A.;
Ding, Jiahuan;
Verheijen, Frans W.;
Schiffmann, Raphael

Publication type:

Article

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.

Published in:

2002

By:

Jordens, Eric Z.;
Palmieri, Luigi;
Huizing, Marjan;
Van Den Heuvel, Lambert P.;
Sengers, Rob C. A.;
Dörner, Andrea;
Ruitenbeek, Wim;
Trijbels, Frans J.;
Valsson, Jullius;
Sigfusson, Gunnlaugur;
Palmieri, Ferdinando;
Smeitink, Jan A. M.;
Dörner, Andrea

Publication type:

journal article

Non-specific accumulation of glycosphingolipids in GNE myopathy.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 297, doi. 10.1007/s10545-013-9655-6

By:

Patzel, Katherine;
Yardeni, Tal;
Poëc-Celic, Erell;
Leoyklang, Petcharat;
Dorward, Heidi;
Alonzi, Dominic;
Kukushkin, Nikolay;
Xu, Bixue;
Zhang, Yongmin;
Sollogoub, Matthieu;
Blériot, Yves;
Gahl, William;
Huizing, Marjan;
Butters, Terry

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 410, doi. 10.1002/mgg3.300

By:

Garland, Jennifer;
Stephen, Joshi;
Class, Bradley;
Gruber, Angela;
Ciccone, Carla;
Poliak, Aaron;
Hayes, Christina P.;
Singhal, Vandana;
Slota, Christina;
Perreault, John;
Gavrilova, Ralitza;
Shrader, Joseph A.;
Chittiboina, Prashant;
Joe, Galen;
Heiss, John;
Gahl, William A.;
Huizing, Marjan;
Carrillo, Nuria;
Malicdan, May Christine V.

Publication type:

Article

Population Pharmacokinetic Model of N-acetylmannosamine (ManNAc) and N-acetylneuraminic acid (Neu5Ac) in Subjects with GNE Myopathy.

Published in:

Drugs in R&D, 2021, v. 21, n. 2, p. 189, doi. 10.1007/s40268-021-00343-6

By:

Van Wart, Scott;
Mager, Donald E.;
Bednasz, Cindy J.;
Huizing, Marjan;
Carrillo, Nuria

Publication type:

Article

Distrubances in mitochondrial transport systems leading to encephalomyopathies.

Published in:

Biofactors, 1998, v. 7, n. 3, p. 225, doi. 10.1002/biof.5520070313

By:

Trijbels, Frans;
Huizing, Marjan;
Ruitenbeek, Wim;
Sengers, Rob;
Smeitink, Jan;
DePinto, Vito;
Wendel, Udo

Publication type:

Article

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

Published in:

BMC Neurology, 2007, v. 7, p. 3, doi. 10.1186/1471-2377-7-3

By:

Sparks, Susan;
Rakocevic, Goran;
Joe, Galen;
Manoli, Irini;
Shrader, Joseph;
Harris-Love, Michael;
Sonies, Barbara;
Ciccone, Carla;
Dorward, Heidi;
Krasnewich, Donna;
Huizing, Marjan;
Dalakas, Marinos C.;
Gahl, William A.

Publication type:

Article

The BEACH Is Hot: A LYST of Emerging Roles for BEACH-Domain Containing Proteins in Human Disease.

Published in:

Traffic, 2013, v. 14, n. 7, p. 749, doi. 10.1111/tra.12069

By:

Cullinane, Andrew R.;
Schäffer, Alejandro A.;
Huizing, Marjan

Publication type:

Article

The BLOS1-Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome-Related Organelles.

Published in:

Traffic, 2012, v. 13, n. 8, p. 1160, doi. 10.1111/j.1600-0854.2012.01375.x

By:

Yang, Qing;
He, Xin;
Yang, Lin;
Zhou, Zhiyong;
Cullinane, Andrew R.;
Wei, Aihua;
Zhang, Zhe;
Hao, Zhenhua;
Zhang, Aili;
He, Min;
Feng, Yaqin;
Gao, Xiang;
Gahl, William A.;
Huizing, Marjan;
Li, Wei

Publication type:

Article

Identifying Putative Promoter Regions of Hermansky-Pudlak Syndrome Genes by Means of Phylogenetic Footprinting.

Published in:

Annals of Human Genetics, 2009, v. 73, n. 4, p. 422, doi. 10.1111/j.1469-1809.2009.00525.x

By:

Stanescu, Horia;
Wolfsberg, Tyra G.;
Moreland, R. Travis;
Ayub, Mariam H.;
Erickson, Elizabeth;
Westbroek, Wendy;
Huizing, Marjan;
Gahl, William A.;
Helip-Wooley, Amanda

Publication type:

Article

Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.

Published in:

Platelets, 2007, v. 18, n. 2, p. 150, doi. 10.1080/13576500600936039

By:

Huizing, Marjan;
Parkes, Jennifer M.;
Helip-Wooley, Amanda;
White, James G.;
Gahl, William A.

Publication type:

Article

Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

Published in:

2018

By:

Leoyklang, Petcharat;
Class, Bradley;
Noguchi, Satoru;
Gahl, William A.;
Carrillo, Nuria;
Nishino, Ichizo;
Huizing, Marjan;
Malicdan, May Christine

Publication type:

journal article

Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky-Pudlak Syndrome Patients of Hispanic Descent.

Published in:

Journal of Investigative Dermatology, 2011, v. 131, n. 12, p. 2394, doi. 10.1038/jid.2011.228

By:

Carmona-Rivera, Carmelo;
Golas, Gretchen;
Hess, Richard A;
Cardillo, Nicholas D;
Martin, Elijah H;
O'Brien, Kevin;
Tsilou, Ekaterini;
Gochuico, Bernadette R;
White, James G;
Huizing, Marjan;
Gahl, William A

Publication type:

Article

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia.

Published in:

2011

By:

Cullinane, Andrew R;
Vilboux, Thierry;
O'Brien, Kevin;
Curry, James A;
Maynard, Dawn M;
Carlson-Donohoe, Hannah;
Ciccone, Carla;
Markello, Thomas C;
Gunay-Aygun, Meral;
Huizing, Marjan;
Gahl, William A;
NISC Comparative Sequencing Program

Publication type:

Case Study

Cellular Defects in Chediak–Higashi Syndrome Correlate with the Molecular Genotype and Clinical Phenotype.

Published in:

2007

By:

Westbroek, Wendy;
Adams, David;
Huizing, Marjan;
Koshoffer, Amy;
Dorward, Heidi;
Tinloy, Bradford;
Parkes, Jennifer;
Helip-Wooley, Amanda;
Kleta, Robert;
Tsilou, Ekaterina;
Duvernay, Patrice;
Digre, Kathleen B.;
Creel, Donnell J.;
White, James G.;
Boissy, Raymond E.;
Gahl, William A.

Publication type:

Letter

Improper Trafficking of Melanocyte-Specific Proteins in Hermansky–Pudlak Syndrome Type-5.

Published in:

Journal of Investigative Dermatology, 2007, v. 127, n. 6, p. 1471, doi. 10.1038/sj.jid.5700737

By:

Helip-Wooley, Amanda;
Westbroek, Wendy;
Dorward, Heidi M.;
Koshoffer, Amy;
Huizing, Marjan;
Boissy, Raymond E.;
Gahl, William A.

Publication type:

Article

Melanocytes Derived from Patients with Hermansky–Pudlak Syndrome Types 1, 2, and 3 Have Distinct Defects in Cargo Trafficking.

Published in:

Journal of Investigative Dermatology, 2005, v. 124, n. 2, p. 420, doi. 10.1111/j.0022-202X.2004.23585.x

By:

Richmond, Bonnie;
Huizing, Marjan;
Knapp, Jill;
Koshoffer, Amy;
Zhao, Yang;
Gahl, William A.;
Boissy, Raymond E.

Publication type:

Article

Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

Published in:

Glycobiology, 2010, v. 20, n. 3, p. 322, doi. 10.1093/glycob/cwp176

By:

Kurochkina, Natalya;
Yardeni, Tal;
Huizing, Marjan

Publication type:

Article

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

Published in:

Glycobiology, 2005, v. 15, n. 11, p. 1102, doi. 10.1093/glycob/cwi100

By:

Susan E. Sparks;
Carla Ciccone;
Molly Lalor;
Eduard Orvisky;
Riko Klootwijk;
Paul J. Savelkoul;
Marinos C. Dalakas;
Donna M. Krasnewich;
William A. Gahl;
Marjan Huizing

Publication type:

Article

Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women.

Published in:

Clinical Pharmacology in Drug Development, 2024, v. 13, n. 8, p. 876, doi. 10.1002/cpdd.1433

By:

Evans, Allan M.;
Fornasini, Gianfranco;
Meola, Tahlia R.;
Gahl, William A.;
Huizing, Marjan;
Polasek, Thomas M.;
Reuter, Stephanie E.

Publication type:

Article

A novel mutation in a Turkish patient with Hermansky–Pudlak syndrome type 5.

Published in:

European Journal of Haematology, 2008, v. 80, n. 4, p. 356, doi. 10.1111/j.1600-0609.2007.01024.x

By:

Korswagen, Lindy-Anne;
Huizing, Marjan;
Simsek, Suat;
Janssen, Jeroen J. W. M.;
Zweegman, Sonja

Publication type:

Article

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Published in:

Pigment Cell & Melanoma Research, 2012, v. 25, n. 5, p. 584, doi. 10.1111/j.1755-148X.2012.01029.x

By:

Cullinane, Andrew R.;
Curry, James A.;
Golas, Gretchen;
Pan, James;
Carmona-Rivera, Carmelo;
Hess, Richard A.;
White, James G.;
Huizing, Marjan;
Gahl, William A.

Publication type:

Article

Cellular and clinical report of new Griscelli syndrome type III cases.

Published in:

Pigment Cell & Melanoma Research, 2012, v. 25, n. 1, p. 47, doi. 10.1111/j.1755-148X.2011.00901.x

By:

Westbroek, Wendy;
Klar, Aharon;
Cullinane, Andrew R.;
Ziegler, Shira G.;
Hurvitz, Haggit;
Ganem, Ashraf;
Wilson, Kirkland;
Dorward, Heidi;
Huizing, Marjan;
Tamimi, Haled;
Vainshtein, Igor;
Berkun, Yackov;
Lavie, Moran;
Gahl, William A.;
Anikster, Yair

Publication type:

Article

Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5.

Published in:

2004

By:

Huizing, Marjan;
Hess, Richard;
Dorward, Heidi;
Claassen, David A.;
Helip-Wooley, Amanda;
Kleta, Robert;
Kaiser-Kupfer, Muriel I.;
White, James C.;
Gahl, William A.

Publication type:

Book Review

Hermansky–Pudlak Syndrome and Related Disorders of Organelle Formation.

Published in:

Traffic, 2000, v. 1, n. 11, p. 823, doi. 10.1034/j.1600-0854.2000.011103.x

By:

Huizing, Marjan;
Anikster, Yair;
Gahl, William A.

Publication type:

Article

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

Published in:

Biomedical Chromatography, 2020, v. 34, n. 2, p. N.PAG, doi. 10.1002/bmc.4735

By:

Fang, Meng;
Xu, Xin;
Zhang, Michael;
Shi, Yifan;
Gu, Guodong;
Liu, Wanjing;
Class, Bradley;
Ciccone, Carla;
Gahl, William A.;
Huizing, Marjan;
Carrillo, Nuria;
Wang, Amy Q.

Publication type:

Article

Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome.

Published in:

British Journal of Haematology, 2003, v. 122, n. 1, p. 142, doi. 10.1046/j.1365-2141.2003.04410.x

By:

Hyman, Tehila;
Huizing, Marjan;
Blumberg, Peter M.;
Falik-Zaccai, Tzipora C.;
Anikster, Yair;
Gahl, William A.

Publication type:

Article

Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease.

Published in:

Molecular Medicine, 2012, v. 18, n. 1, p. 56, doi. 10.2119/molmed.2011.00198

By:

Gochuico, Bernadette R.;
Huizing, Marjan;
Golas, Gretchen A.;
Scher, Charles D.;
Tsokos, Maria;
Denver, Stacey D.;
Frei-Jones, Melissa J.;
Gahl, William A.

Publication type:

Article