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Marjan Huizing
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54
Gahl, William
19
Anikster, Yair
12
Helip-Wooley, Amanda
12
Krasnewich, Donna
7
Boissy, Raymond
7
Westbroek, Wendy
6
Tsilou, Ekaterini
6
Ciccone, Carla
6
Kleta, Robert
5
Kaiser-Kupfer, Muriel
5
Fitzpatrick, Diana
5
Dorward, Heidi
5
Sparks, Susan
5
White, James
5
Manoli, Irini
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All Publications
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2009: Huizing Marjan; Krasnewich Donna M
Hereditary inclusion body myopathy: a decade of progress.
Biochimica et biophysica acta 2009;1792(9):881-7.
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2009: Gunay-Aygun Meral; Parisi Melissa A; Doherty Dan; Tuchman Maya; Tsilou Ekaterini; Kleiner David E; Huizing Marjan; Turkbey Baris; Choyke Peter; Guay-Woodford Lisa; Heller Theo; Szymanska Katarzyna; Johnson Colin A; Glass Ian; Gahl William A
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
The Journal of pediatrics 2009;155(3):386-92.e1.
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2009: Stanescu Horia; Wolfsberg Tyra G; Moreland R Travis; Ayub Mariam H; Erickson Elizabeth; Westbroek Wendy; Huizing Marjan; Gahl William A; Helip-Wooley Amanda
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.
Annals of human genetics 2009;73(Pt 4):422-8.
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2009: Vincent Lisa M; Adams David; Hess Richard A; Ziegler Shira G; Tsilou Ekaterini; Golas Gretchen; O'Brien Kevin J; White James G; Huizing Marjan; Gahl William A
Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
Molecular genetics and metabolism 2009;97(3):227-33.
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2009: Merideth Melissa A; Vincent Lisa M; Sparks Susan E; Hess Richard A; Manoli Irini; O'Brien Kevin J; Tsilou Ekaterina; White James G; Huizing Marjan; Gahl William A
Hermansky-Pudlak syndrome in two African-American brothers.
American journal of medical genetics. Part A 2009;149A(5):987-92.
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2008: Contopoulos-Ioannidis Despina; Evangeliou Athanasios; ter Laak Henk; de Vries Bert; Pfundt Rolph; Scheffer Hans; Smeitink Jan; Tzoufi Meropi; Makis Alexandros; Marinos Evangelos; Hess Richard; Adams David; Huizing Marjan; Morava Eva
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
American journal of medical genetics. Part A 2008;146A(23):3100-3.
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2008: Klootwijk Riko D; Savelkoul Paul J M; Ciccone Carla; Manoli Irini; Caplen Natasha J; Krasnewich Donna M; Gahl William A; Huizing Marjan
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(11):3846-52.
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2008: Korswagen Lindy-Anne; Huizing Marjan; Simsek Suat; Janssen Jeroen J W M; Zweegman Sonja
A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.
European journal of haematology 2008;80(4):356-60.
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2008: Nazarian Ramin; Huizing Marjan; Helip-Wooley Amanda; Starcevic Marta; Gahl William A; Dell'Angelica Esteban C
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.
Molecular genetics and metabolism 2008;93(2):134-44.
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2008: Huizing Marjan; Helip-Wooley Amanda; Westbroek Wendy; Gunay-Aygun Meral; Gahl William A
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
Annual review of genomics and human genetics 2008;9():359-86.
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2007: 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
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.
The Journal of investigative dermatology 2007;127(11):2674-7.
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2007: Brooks Brian P; Larson Denise M; Chan Chi-Chao; Kjellstrom Sten; Smith Richard S; Crawford Mary A; Lamoreux Lynn; Huizing Marjan; Hess Richard; Jiao Xiaodong; Hejtmancik J Fielding; Maminishkis Arvydas; John Simon W M; Bush Ronald; Pavan William J
Analysis of ocular hypopigmentation in Rab38cht/cht mice.
Investigative ophthalmology & visual science 2007;48(9):3905-13.
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2007: Galeano Belinda; Klootwijk Riko; Manoli Irini; Sun MaoSen; Ciccone Carla; Darvish Daniel; Starost Matthew F; Zerfas Patricia M; Hoffmann Victoria J; Hoogstraten-Miller Shelley; Krasnewich Donna M; Gahl William A; Huizing Marjan
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
The Journal of clinical investigation 2007;117(6):1585-94.
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2007: Helip-Wooley Amanda; Westbroek Wendy; Dorward Heidi M; Koshoffer Amy; Huizing Marjan; Boissy Raymond E; Gahl William A
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.
The Journal of investigative dermatology 2007;127(6):1471-8.
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2007: Huizing Marjan; Parkes Jennifer M; Helip-Wooley Amanda; White James G; Gahl William A
Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
Platelets 2007;18(2):150-7.
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2007: Chintala Sreenivasulu; Tan Jian; Gautam Rashi; Rusiniak Michael E; Guo Xiaoli; Li Wei; Gahl William A; Huizing Marjan; Spritz Richard A; Hutton Saunie; Novak Edward K; Swank Richard T
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules.
Blood 2007;109(4):1533-40.
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2007: 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
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
BMC neurology 2007;7():3.
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2006: 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
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
Human mutation 2006;27(11):1158.
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2006: Jordens Ingrid; Westbroek Wendy; Marsman Marije; Rocha Nuno; Mommaas Mieke; Huizing Marjan; Lambert Jo; Naeyaert Jean M; Neefjes Jacques
Rab7 and Rab27a control two motor protein activities involved in melanosomal transport.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2006;19(5):412-23.
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2006: Savelkoul Paul J M; Manoli Irini; Sparks Susan E; Ciccone Carla; Gahl William A; Krasnewich Donna M; Huizing Marjan
Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.
Molecular genetics and metabolism 2006;88(4):389-90.
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2006: Bendavid C; Haddad B R; Griffin A; Huizing M; Dubourg C; Gicquel I; Cavalli L R; Pasquier L; Shanske A L; Long R; Ouspenskaia M; Odent S; Lacbawan F; David V; Muenke M
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
Journal of medical genetics 2006;43(6):496-500.
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2005: Huizing Marjan; Brooks Brian P; Anikster Yair
Optic neuropathies in inherited metabolic disorders.
Pediatric endocrinology reviews : PER 2005;3(2):97-103.
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2005: Sparks Susan E; Ciccone Carla; Lalor Molly; Orvisky Eduard; Klootwijk Riko; Savelkoul Paul J; Dalakas Marinos C; Krasnewich Donna M; Gahl William A; Huizing Marjan
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
Glycobiology 2005;15(11):1102-10.
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2005: Huizing Marjan; Brooks Brian P; Anikster Yair
Optic atrophies in metabolic disorders.
Molecular genetics and metabolism 2005;86(1-2):51-60.
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2005: Gottlieb Emily; Ciccone Carla; Darvish Daniel; Naiem-Cohen Shahrouz; Dalakas Marinos C; Savelkoul Paul J; Krasnewich Donna M; Gahl William A; Huizing Marjan
Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.
Molecular genetics and metabolism 2005;86(1-2):244-9.
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2005: Gradstein Libe; FitzGibbon Edmond J; Tsilou Ekaterini T; Rubin Benjamin I; Huizing Marjan; Gahl William A
Eye movement abnormalities in hermansky-pudlak syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2005;9(4):369-78.
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2005: Chintala Sreenivasulu; Li Wei; Lamoreux M Lynn; Ito Shosuke; Wakamatsu Kazumasa; Sviderskaya Elena V; Bennett Dorothy C; Park Young-Mee; Gahl William A; Huizing Marjan; Spritz Richard A; Ben Songtao; Novak Edward K; Tan Jian; Swank Richard T
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(31):10964-9.
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2005: Griffin A E; Cobb B R; Anderson P D; Claassen D A; Helip-Wooley A; Huizing M; Gahl W A
Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.
Clinical genetics 2005;68(1):23-30.
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2005: Richmond Bonnie; Huizing Marjan; Knapp Jill; Koshoffer Amy; Zhao Yang; Gahl William A; Boissy Raymond E
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking.
The Journal of investigative dermatology 2005;124(2):420-7.
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2005: Boissy Raymond E; Richmond Bonnie; Huizing Marjan; Helip-Wooley Amanda; Zhao Yang; Koshoffer Amy; Gahl William A
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3.
The American journal of pathology 2005;166(1):231-40.
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2005: Helip-Wooley Amanda; Westbroek Wendy; Dorward Heidi; Mommaas Mieke; Boissy Raymond E; Gahl William A; Huizing Marjan
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.
BMC cell biology 2005;6():33.
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2004: Gwynn Babette; Martina Jose A; Bonifacino Juan S; Sviderskaya Elena V; Lamoreux M Lynn; Bennett Dorothy C; Moriyama Kengo; Huizing Marjan; Helip-Wooley Amanda; Gahl William A; Webb Lisa S; Lambert Amy J; Peters Luanne L
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.
Blood 2004;104(10):3181-9.
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2004: Gunay-Aygun Meral; Huizing Marjan; Gahl William A
Molecular defects that affect platelet dense granules.
Seminars in thrombosis and hemostasis 2004;30(5):537-47.
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2004: Westbroek Wendy; Lambert Jo; De Schepper Sofie; Kleta Robert; Van Den Bossche Karolien; Seabra Miguel C; Huizing Marjan; Mommaas Mieke; Naeyaert Jean Marie
Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2004;17(5):498-505.
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2004: Huizing Marjan; Hess Richard; Dorward Heidi; Claassen David A; Helip-Wooley Amanda; Kleta Robert; Kaiser-Kupfer Muriel I; White James G; Gahl William A
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.
Traffic (Copenhagen, Denmark) 2004;5(9):711-22.
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2004: Tsilou Ekaterini T; Rubin Benjamin I; Reed George F; McCain Lessie; Huizing Marjan; White James; Kaiser-Kupfer Muriel I; Gahl William
Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.
Ophthalmology 2004;111(8):1599-603.
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2004: Garrison N A; Yi Z; Cohen-Barak O; Huizing M; Hartnell L M; Gahl W A; Brilliant M H
P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome.
Journal of medical genetics 2004;41(6):e86.
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2004: Huizing Marjan; Rakocevic Goran; Sparks Susan E; Mamali Ioanna; Shatunov Alexey; Goldfarb Lev; Krasnewich Donna; Gahl William A; Dalakas Marinos C
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
Molecular genetics and metabolism 2004;81(3):196-202.
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2003: Hyman Tehila; Huizing Marjan; Blumberg Peter M; Falik-Zaccai Tzipora C; Anikster Yair; Gahl William A
Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome.
British journal of haematology 2003;122(1):142-9.
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2003: Kleta Robert; Aughton David J; Rivkin Michael J; Huizing Marjan; Strovel Erin; Anikster Yair; Orvisky Eduard; Natowicz Marvin; Krasnewich Donna; Gahl William A
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
American journal of medical genetics. Part A 2003;120A(1):28-33.
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2003: Martin Rick A; Slaugh Rachel; Natowicz Marvin; Pearlman Kayla; Orvisky Eduard; Krasnewich Donna; Kleta Robert; Huizing Marjan; Gahl William A
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
American journal of medical genetics. Part A 2003;120A(1):23-7.
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2003: Anderson Paul D; Huizing Marjan; Claassen David A; White James; Gahl William A
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.
Human genetics 2003;113(1):10-7.
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2003: Ciciotte Steven L; Gwynn Babette; Moriyama Kengo; Huizing Marjan; Gahl William A; Bonifacino Juan S; Peters Luanne L
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
Blood 2003;101(11):4402-7.
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2002: Phornphutkul Chanika; Introne Wendy J; Perry Monique B; Bernardini Isa; Murphey Mark D; Fitzpatrick Diana L; Anderson Paul D; Huizing Marjan; Anikster Yair; Gerber Lynn H; Gahl William A
Natural history of alkaptonuria.
The New England journal of medicine 2002;347(26):2111-21.
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2002: Huizing Marjan; Boissy Raymond E; Gahl William A
Hermansky-Pudlak syndrome: vesicle formation from yeast to man.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2002;15(6):405-19.
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2002: Hermos Christina R; Huizing Marjan; Kaiser-Kupfer Muriel I; Gahl William A
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
Human mutation 2002;20(6):482.
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2002: Avila Nilo A; Brantly Mark; Premkumar Ahalya; Huizing Marjan; Dwyer Andrew; Gahl William A
Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.
AJR. American journal of roentgenology 2002;179(4):887-92.
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2002: Huizing M; Gahl W A
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.
Current molecular medicine 2002;2(5):451-67.
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2002: Anikster Yair; Huizing Marjan; Anderson Paul D; Fitzpatrick Diana L; Klar Aharon; Gross-Kieselstein Eva; Berkun Yackov; Shazberg Gila; Gahl William A; Hurvitz Haggit
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.
American journal of human genetics 2002;71(2):407-14.
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2002: Huizing Marjan; Scher Charles D; Strovel Erin; Fitzpatrick Diana L; Hartnell Lisa M; Anikster Yair; Gahl William A
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.
Pediatric research 2002;51(2):150-8.
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2001: Kleta R; Anikster Y; Lucero C; Shotelersuk V; Huizing M; Bernardini I; Park M; Thoene J; Schneider J; Gahl W A
CTNS mutations in African American patients with cystinosis.
Molecular genetics and metabolism 2001;74(3):332-7.
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2001: Huizing M; Anikster Y; Fitzpatrick D L; Jeong A B; D'Souza M; Rausche M; Toro J R; Kaiser-Kupfer M I; White J G; Gahl W A
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
American journal of human genetics 2001;69(5):1022-32.
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2001: Phornphutkul C; Anikster Y; Huizing M; Braun P; Brodie C; Chou J Y; Gahl W A
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.
American journal of human genetics 2001;69(4):712-21.
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2001: Huizing M; Anikster Y; White J G; Gahl W A
Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.
Molecular genetics and metabolism 2001;74(1-2):217-25.
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2001: Anikster Y; Huizing M; White J; Shevchenko Y O; Fitzpatrick D L; Touchman J W; Compton J G; Bale S J; Swank R T; Gahl W A; Toro J R
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
Nature genetics 2001;28(4):376-80.
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2001: Huizing M; Anikster Y; Gahl W A
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.
Thrombosis and haemostasis 2001;86(1):233-45.
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2001: Huizing M; Sarangarajan R; Strovel E; Zhao Y; Gahl W A; Boissy R E
AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes.
Molecular biology of the cell 2001;12(7):2075-85.
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2001: Leroy J G; Seppala R; Huizing M; Dacremont G; De Simpel H; Van Coster R N; Orvisky E; Krasnewich D M; Gahl W A
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
American journal of human genetics 2001;68(6):1419-27.
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2001: Huizing M; Didier A; Walenta J; Anikster Y; Gahl W A; Krämer H
Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.
Gene 2001;264(2):241-7.
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2000: Huizing M; Anikster Y; Gahl W A
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Traffic (Copenhagen, Denmark) 2000;1(11):823-35.
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2000: Huizing M; Anikster Y; Gahl W A
Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.
Human genetics 2000;106(3):370-3.
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2000: Brantly M; Avila N A; Shotelersuk V; Lucero C; Huizing M; Gahl W A
Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.
Chest 2000;117(1):129-36.
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2000: Anikster Y; Lucero C; Guo J; Huizing M; Shotelersuk V; Bernardini I; McDowell G; Iwata F; Kaiser-Kupfer M I; Jaffe R; Thoene J; Schneider J A; Gahl W A
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
Pediatric research 2000;47(1):17-23.
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1999: Ferreira H; Seppala R; Pinto R; Huizing M; Martins E; Braga A C; Gomes L; Krasnewich D M; Sa Miranda M C; Gahl W A
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
Molecular genetics and metabolism 1999;67(2):131-7.
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1999: Anikster Y; Lucero C; Touchman J W; Huizing M; McDowell G; Shotelersuk V; Green E D; Gahl W A
Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).
Molecular genetics and metabolism 1999;66(2):111-6.
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