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51

Optic atrophies in metabolic disorders

Marjan Huizing, Brian P. Brooks, Yair Anikster

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 277 KB

english, 2005

52

Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy

Paul J.M. Savelkoul, Irini Manoli, Susan E. Sparks, Carla Ciccone, William A. Gahl, Donna M. Krasnewich, Marjan Huizing

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 165 KB

english, 2006

53

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky–Pudlak syndrome

Ramin Nazarian, Marjan Huizing, Amanda Helip-Wooley, Marta Starcevic, William A. Gahl, Esteban C. Dell’Angelica

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.37 MB

english, 2008

54

Hermansky–Pudlak syndrome type 1 in patients of Indian descent

Lisa M. Vincent, David Adams, Richard A. Hess, Shira G. Ziegler, Ekaterini Tsilou, Gretchen Golas, Kevin J. O’Brien, James G. White, Marjan Huizing, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 2.31 MB

english, 2009

55

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

Marjan Huizing, Heidi Dorward, Lien Ly, Enriko Klootwijk, Robert Kleta, Flemming Skovby, Wuhong Pei, Benjamin Feldman, William A. Gahl, Yair Anikster

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 2.53 MB

english, 2010

56

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2

Lisa M. Vincent, Fred Gilbert, Jennifer I. DiPace, Carla Ciccone, Thomas C. Markello, Andrew Jeong, Heidi Dorward, Wendy Westbroek, William A. Gahl, James B. Bussel, Marjan Huizing

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 500 KB

english, 2010

57

Melanocyte-Specific Proteins Are Aberrantly Trafficked in Melanocytes of Hermansky-Pudlak Syndrome-Type 3

Raymond E. Boissy, Bonnie Richmond, Marjan Huizing, Amanda Helip-Wooley, Yang Zhao, Amy Koshoffer, William A. Gahl

Journal:

The American Journal of Pathology

Year:

2005

Language:

english

File:

PDF, 1.63 MB

english, 2005

58

Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33

Marjan Huizing, Aaron Didier, Jason Walenta, Yair Anikster, William A. Gahl, Helmut Krämer

Journal:

Year:

2001

Language:

english

File:

PDF, 523 KB

english, 2001

59

Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient

Marjan Huizing, Vito Iacobazzi, Lodewijk IJlst, Paul Savelkoul, Wim Ruitenbeek, Lambert van den Heuvel, Cesare Indiveri, Jan Smeitink, Frans Trijbels, Ronald Wanders, Ferdinando Palmieri

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 1.18 MB

english, 1997

60

Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition

Jules G. Leroy, Raili Seppala, Marjan Huizing, George Dacremont, Helena De Simpel, Rudy N. Van Coster, Edwin Orvisky, Donna M. Krasnewich, William A. Gahl

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 496 KB

english, 2001

61

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

Chanika Phornphutkul, Yair Anikster, Marjan Huizing, Paula Braun, Chaya Brodie, Janice Y. Chou, William A. Gahl

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.32 MB

english, 2001

62

Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A

Yair Anikster, Marjan Huizing, Paul D. Anderson, Diana L. Fitzpatrick, Aharon Klar, Eva Gross-Kieselstein, Yackov Berkun, Gila Shazberg, William A. Gahl, Haggit Hurvitz

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 315 KB

english, 2002

63

Reply to Ménasché et al.

Marjan Huizing, Y. Anikster, W.A. Gahl

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 45 KB

english, 2002

64

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

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

Journal:

Pigment Cell & Melanoma Research

Year:

2012

Language:

english

File:

PDF, 384 KB

english, 2012

65

Cellular and clinical report of new Griscelli syndrome type III cases

Wendy Westbroek, Aharon Klar, Andrew R. Cullinane, Shira G. Ziegler, Haggit Hurvitz, Ashraf Ganem, Kirkland Wilson, Heidi Dorward, Marjan Huizing, Haled Tamimi, Igor Vainshtein, Yackov Berkun, Moran L

Journal:

Pigment Cell & Melanoma Research

Year:

2012

Language:

english

File:

PDF, 8.68 MB

english, 2012

66

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy

Terren K. Niethamer, Tal Yardeni, Petcharat Leoyklang, Carla Ciccone, Adrian Astiz-Martinez, Katherine Jacobs, Heidi M. Dorward, Patricia M. Zerfas, William A. Gahl, Marjan Huizing

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 927 KB

english, 2012

67

Lack of voltage-dependent anion channel in human mitochondrial myopathies

Marjan Huizing, Wim Ruitenbeek, FriedrichP. Thinnes, Vito DePinto

Journal:

Year:

1994

Language:

english

File:

PDF, 174 KB

english, 1994

68

Disease mechanisms associated with mutations of the GNE gene

Journal:

Drug Discovery Today: Disease Mechanisms

Year:

2005

Language:

english

File:

PDF, 394 KB

english, 2005

69

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics *

Huizing, Marjan, Helip-Wooley, Amanda, Westbroek, Wendy, Gunay-Aygun, Meral, Gahl, William A.

Journal:

Annual Review of Genomics and Human Genetics

Year:

2008

Language:

english

File:

PDF, 2.22 MB

english, 2008

70

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

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

Journal:

Glycoconjugate Journal

Year:

2013

Language:

english

File:

PDF, 591 KB

english, 2013

71

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

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,

Journal:

Year:

2013

Language:

english

File:

PDF, 384 KB

english, 2013

72

Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex

Nemunaitis, Gregory, Jay, Chris M., Maples, Phillip B., Gahl, William A., Huizing, Marjan, Yardeni, Tal, Tong, Alex W., Phadke, Anagha P., Pappen, Beena O., Bedell, Cynthia, Allen, Henry, Hernandez, C

Journal:

Human Gene Therapy

Year:

2011

Language:

english

File:

PDF, 1.00 MB

english, 2011

73

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of theUPF3Bgene

Leoyklang, Petcharat, Suphapeetiporn, Kanya, Srichomthong, Chalurmpon, Tongkobpetch, Siraprapa, Fietze, Stefanie, Dorward, Heidi, Cullinane, Andrew R., Gahl, William A., Huizing, Marjan, Shotelersuk,

Journal:

Year:

2013

Language:

english

File:

PDF, 471 KB

english, 2013

74

GNE myopathy: New name and new mutation nomenclature

Huizing, Marjan, Carrillo-Carrasco, Nuria, Malicdan, May Christine V., Noguchi, Satoru, Gahl, William A., Mitrani-Rosenbaum, Stella, Argov, Zohar, Nishino, Ichizo

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 223 KB

english, 2014

75

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

Lam, Christina, Gallo, Linda K., Dineen, Richard, Ciccone, Carla, Dorward, Heidi, Hoganson, George E., Wolfe, Lynne, Gahl, William A., Huizing, Marjan

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 327 KB

english, 2014

76

Intestinal Disease in Hermansky-Pudlak Syndrome: Occurrence of Colitis and Relation to Genotype

Hussain, Nadeem, Quezado, Martha, Huizing, Marjan, Geho, David, White, James G., Gahl, William, Mannon, Peter

Journal:

Clinical Gastroenterology and Hepatology

Year:

2006

Language:

english

File:

PDF, 181 KB

english, 2006

77

Mutation Update for GNE Gene Variants Associated with GNE Myopathy

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

Journal:

Year:

2014

Language:

english

File:

PDF, 940 KB

english, 2014

78

Identification, Tissue Distribution, and Molecular Modeling of Novel Human Isoforms of the Key Enzyme in Sialic Acid Synthesis, UDP-GlcNAc 2-Epimerase/ManNAc Kinase

Yardeni, Tal, Choekyi, Tsering, Jacobs, Katherine, Ciccone, Carla, Patzel, Katherine, Anikster, Yair, Gahl, William A., Kurochkina, Natalya, Huizing, Marjan

Journal:

Year:

2011

Language:

english

File:

PDF, 4.13 MB

english, 2011

79

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 4.97 MB

english, 2013

80

Atypical presentation of GNE myopathy with asymmetric hand weakness

de Dios, John Karl L., Shrader, Joseph A., Joe, Galen O., McClean, Jeffrey C., Williams, Kayla, Evers, Robert, Malicdan, May Christine V., Ciccone, Carla, Mankodi, Ami, Huizing, Marjan, McKew, John C.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.32 MB

english, 2014

81

In vitro functional correction of Hermansky–Pudlak Syndrome type-1 by lentiviral-mediated gene transfer

Ikawa, Yasuhiro, Hess, Richard, Dorward, Heidi, Cullinane, Andrew R., Huizing, Marjan, Gochuico, Bernadette R., Gahl, William A., Candotti, Fabio

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 685 KB

english, 2015

82

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

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

Journal:

Year:

2007

Language:

english

File:

PDF, 550 KB

english, 2007

83

Pregnancy in autosomal recessive polycystic kidney disease

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

Journal:

Archives of Gynecology and Obstetrics

Year:

2015

Language:

english

File:

PDF, 153 KB

english, 2015

84

A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45

Vilboux, Thierry, Lev, Atar, Malicdan, May Christine V., Simon, Amos J., Järvinen, Päivi, Racek, Tomas, Puchalka, Jacek, Sood, Raman, Carrington, Blake, Bishop, Kevin, Mullikin, James, Huizing, Marjan

Journal:

Boston Medical and Surgical Journal

Year:

2013

Language:

english

File:

PDF, 1.53 MB

english, 2013

85

Analysis of Ocular Hypopigmentation in Rab38 cht/cht Mice

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, Ma

Journal:

Investigative Ophthalmology & Visual Science

Year:

2007

Language:

english

File:

PDF, 670 KB

english, 2007

86

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

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

Journal:

Case Reports in Medicine

Year:

2010

Language:

english

File:

PDF, 1.16 MB

english, 2010

87

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

Shi, Yifan, Xu, Xin, Fang, Meng, Zhang, Michael, Li, Yinghe, Gillespie, Brad, Yorke, Selwyn, Yang, Nora, McKew, John C., Gahl, William A., Huizing, Marjan, Carrillo-Carrasco, Nuria, Wang, Amy Qiu

Journal:

Journal of Chromatography B

Year:

2015

Language:

english

File:

PDF, 340 KB

english, 2015

88

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

Lam, Christina, Golas, Gretchen A., Davids, Mariska, Huizing, Marjan, Kane, Megan S., Krasnewich, Donna M., Malicdan, May Christine V., Adams, David R., Markello, Thomas C., Zein, Wadih M., Gropman, A

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.63 MB

english, 2015

89

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

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, Wil

Journal:

The Journal of Investigative Dermatology

Year:

2011

Language:

english

File:

PDF, 1.74 MB

english, 2011

90

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

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

Journal:

The Journal of Investigative Dermatology

Year:

2011

Language:

english

File:

PDF, 2.48 MB

english, 2011

91

Natural History of Alkaptonuria

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, Willia

Journal:

Boston Medical and Surgical Journal

Year:

2002

Language:

english

File:

PDF, 256 KB

english, 2002

92

Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2

Huizing, Marjan, Scher, Charles D, Strovel, Erin, Fitzpatrick, Diana L, Hartnell, Lisa M, Anikster, Yair, Gahl, William A

Journal:

Pediatric Research

Year:

2002

Language:

english

File:

PDF, 907 KB

english, 2002

93

Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1

Rouhani, Farshid N., Brantly, Mark L., Markello, Thomas C., Helip-Wooley, Amanda, O'Brien, Kevin, Hess, Richard, Huizing, Marjan, Gahl, William A., Gochuico, Bernadette R.

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2009

Language:

english

File:

PDF, 357 KB

english, 2009

94

Molecular Defects that Affect Platelet Dense Granules

Gunay-Aygun, Meral, Huizing, Marjan, Gahl, William A

Journal:

Seminars in Thrombosis and Hemostasis

Year:

2004

Language:

english

File:

PDF, 356 KB

english, 2004

95

Disorders of Vesicles of Lysosomal Lineage: The Hermansky- Pudlak Syndromes

Huizing, Marjan, Gahl, William

Journal:

Current Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 199 KB

english, 2002

96

Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies

Avila, Nilo A., Brantly, Mark, Premkumar, Ahalya, Huizing, Marjan, Dwyer, Andrew, Gahl, William A.

Journal:

American Journal of Roentgenology

Year:

2002

Language:

english

File:

PDF, 7.48 MB

english, 2002

97

Sialylation of Thomsen–Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy

Leoyklang, Petcharat, Malicdan, May Christine, Yardeni, Tal, Celeste, Frank, Ciccone, Carla, Li, Xueli, Jiang, Rong, Gahl, William A, Carrillo-Carrasco, Nuria, He, Miao, Huizing, Marjan

Journal:

Biomarkers in Medicine

Year:

2014

Language:

english

File:

PDF, 2.64 MB

english, 2014

98

104: Prenatal whole exome sequencing identifies genetic causes of congenital heart disease in fetuses with normal karyotype and normal microarray

Al-kouatly, Huda B., Vilboux, Thierry, Fries, Melissa H., Young, Alice, Mullikin, Jim C., Malicdan, May Christine V., Stephen, Joshi, Huizing, Marjan, Gahl, William A., Wapner, Ronald J.

Journal:

American Journal of Obstetrics and Gynecology

Year:

2016

Language:

english

File:

PDF, 457 KB

english, 2016

99

[American Thoracic Society American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans - ()] D48. INTERSTITIAL LUNG DISEASE: PATHOBIOLOGY, BIOMARKERS AND TREATMENT - Interstitial Lung Disease In Hermansky-Pudlak Syndrome-2

Gochuico, Bernadette R., Huizing, Marjan, Golas, Gretchen, Gahl, William A.

Year:

2010

Language:

english

File:

PDF, 17 KB

english, 2010

100

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

Bryan, Melanie M., Tolman, Nathanial J., Simon, Karen L., Huizing, Marjan, Hufnagel, Robert B., Brooks, Brian P., Speransky, Vladislav, Mullikin, James C., Gahl, William A., Malicdan, May Christine V.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 812 KB

english, 2017

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