Marjan Huiz: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

Marjan Huizing, Yair Anikster, Diana L. Fitzpatrick, Anna B. Jeong, Maria D’Souza, Melanie Rausche, Jorge R. Toro, Muriel I. Kaiser-Kupfer, James G. White, William A. Gahl

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.70 MB

english, 2001

2

Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)

Yair Anikster, Cynthia Lucero, Jeffrey W. Touchman, Marjan Huizing, Geraldine McDowell, Vorasuk Shotelersuk, Eric D. Green, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 135 KB

english, 1999

3

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

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

Journal:

The Journal of Gene Medicine

Year:

2010

Language:

english

File:

PDF, 521 KB

english, 2010

4

Hermansky‐Pudlak Syndrome: Mutation Update

Huizing, Marjan, Malicdan, May Christine 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.

Journal:

Year:

2020

Language:

english

File:

PDF, 1.15 MB

english, 2020

5

Sialuria in a Portuguese Girl: Clinical, Biochemical, and Molecular Characteristics

Helena Ferreira, Raili Seppala, Rui Pinto, Marjan Huizing, Esmeralda Martins, Ana Cristina Braga, Lourenco Gomes, Donna M. Krasnewich, M.Clara Sa Miranda, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 224 KB

english, 1999

6

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 335 KB

english, 2016

7

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

8

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

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., G

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 6.71 MB

english, 2019

9

Rab27b is Up-Regulated in Human Griscelli Syndrome Type II Melanocytes and Linked to the Actin Cytoskeleton via Exon F-Myosin Va Transcripts

Wendy Westbroek, Jo Lambert, Sofie De Schepper, Robert Kleta, Karolien Van Den Bossche, Miguel C. Seabra, Marjan Huizing, Mieke Mommaas, Jean Marie Naeyaert

Journal:

Pigment Cell & Melanoma Research

Year:

2004

Language:

english

File:

PDF, 223 KB

english, 2004

10

Mapping of the Human Voltage-Dependent Anion Channel Isoforms 1 and 2 Reconsidered

Angela Messina, Marta Oliva, Cecilia Rosato, Marjan Huizing, Wim Ruitenbeek, Lambert P. van den Heuvel, Michael Forte, Mariano Rocchi, Vito De Pinto

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 144 KB

english, 1999

11

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

12

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

13

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

14

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

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

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 2.95 MB

english, 2002

15

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

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

Journal:

Year:

2009

Language:

english

File:

PDF, 234 KB

english, 2009

16

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

17

Hermansky-Pudlak Syndrome (HPS) as a Genetically Heterogeneous Disease: Clinical, Molecular, and Cell Biological Aspects

Gahl, William A, Shotelersuk, Vorasuk, Brantly, Mark, Huizing, Marjan, Dell'Angelica, Esteban C, Bonifacino, Juan S

Journal:

Pediatric Research

Year:

1999

File:

PDF, 70 KB

1999

18

Importance of mitochondrial transmembrane processes in human mitochondriopathies

Marjan Huizing, Vito DePinto, Wim Ruitenbeek, Frans J. M. Trijbels, Lambert P. van den Heuvel, Udo Wendel

Journal:

Journal of Bioenergetics and Biomembranes

Year:

1996

Language:

english

File:

PDF, 460 KB

english, 1996

19

Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy

Emily Gottlieb, Carla Ciccone, Daniel Darvish, Shahrouz Naiem-Cohen, Marinos C. Dalakas, Paul J. Savelkoul, Donna M. Krasnewich, William A. Gahl, Marjan Huizing

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 250 KB

english, 2005

20

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

21

Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS

Anikster, Yair, Lucero, Cynthia, Touchman, Jeffrey W, Huizing, Marjan, McDowel, Geraldine, Shotelersuk, Vorasuk, Green, Eric D, Gahl, William A

Journal:

Pediatric Research

Year:

1999

File:

PDF, 70 KB

1999

22

Hermansky–Pudlak syndrome in two African-American brothers

Melissa A. Merideth, Lisa M. Vincent, Susan E. Sparks, Richard A. Hess, Irini Manoli, Kevin J. O'Brien, Ekaterina Tsilou, James G. White, Marjan Huizing, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 247 KB

english, 2009

23

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

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

Journal:

Year:

2002

Language:

english

File:

PDF, 1.81 MB

english, 2002

24

Rab7 and Rab27a control two motor protein activities involved in melanosomal transport

Ingrid Jordens, Wendy Westbroek, Marije Marsman, Nuno Rocha, Mieke Mommaas, Marjan Huizing, Jo Lambert, Jean M. Naeyaert, Jacques Neefjes

Journal:

Pigment Cell & Melanoma Research

Year:

2006

Language:

english

File:

PDF, 1.24 MB

english, 2006

25

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

26

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

27

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

Rick A. Martin, Rachel Slaugh, Marvin Natowicz, Kayla Pearlman, Eduard Orvisky, Donna Krasnewich, Robert Kleta, Marjan Huizing, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 159 KB

english, 2003

28

Hermansky-Pudlak syndrome type

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

Journal:

Year:

2003

Language:

english

File:

PDF, 364 KB

english, 2003

29

CTNS Mutations in African American Patients with Cystinosis

Robert Kleta, Yair Anikster, Cynthia Lucero, Vorasuk Shotelersuk, Marjan Huizing, Isa Bernardini, Margaret Park, Jess Thoene, Jerry Schneider, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 282 KB

english, 2001

30

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

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

Journal:

British Journal of Haematology

Year:

2003

Language:

english

File:

PDF, 527 KB

english, 2003

31

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

32

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

33

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

34

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

35

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

Huizing, Marjan, Yardeni, Tal, Fuentes, Federico, Malicdan, May C.V., Leoyklang, Petcharat, Volkov, Alexander, Dekel, Benjamin, Brede, Emily, Blake, Jodi, Powell, Alva, Chatrathi, Harish, Anikster, Ya

Journal:

Kidney International Reports

Year:

2019

Language:

english

File:

PDF, 1.32 MB

english, 2019

36

Rapid and noninvasive screening of patients with mitochondrial myopathy

Nicky Kotsimbos, M. J. Bernadette Jean-Francois, Marjan Huizing, Robert M. I. Kapsa, Patcharee Lertrit, Nurjati C. Siregar, Sangkot Marzuki, Carolyn Sue, Edward Byrne

Journal:

Year:

1994

Language:

english

File:

PDF, 394 KB

english, 1994

37

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

Westbroek, Wendy, Adams, David, Huizing, Marjan, Koshoffer, Amy, Dorward, Heidi, Tinloy, Bradford, Parkes, Jennifer, Helip-Wooley, Amanda, Kleta, Robert, Tsilou, Ekaterina

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 180 KB

english, 2007

38

Quantification of Lectin Fluorescence in GNE Myopathy Muscle Biopsies

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

Journal:

Year:

2018

Language:

english

File:

PDF, 942 KB

english, 2018

39

Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome

Antoine De Leusse, Evelyne Dupuy, Marjan Huizing, Claire Danel, Guy Meyer, Raymond Jian, Philippe Marteau

Journal:

Gastroentérologie Clinique et Biologique

Year:

2006

File:

PDF, 298 KB

2006

40

Hypoglycosylation of α-dystroglycan in patients with hereditary IBM due to GNE mutations

Marjan Huizing, Goran Rakocevic, Susan E Sparks, Ioanna Mamali, Alexey Shatunov, Lev Goldfarb, Donna Krasnewich, William A Gahl, Marinos C Dalakas

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 930 KB

english, 2004

41

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

42

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

43

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

Carrillo, Nuria, Malicdan, May C., Huizing, Marjan

Journal:

Neurotherapeutics

Year:

2018

Language:

english

File:

PDF, 7.34 MB

english, 2018

44

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

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

Journal:

Year:

2012

Language:

english

File:

PDF, 10.57 MB

english, 2012

45

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

46

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

47

Genetic variants associated with Hermansky-Pudlak syndrome

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

Journal:

Year:

2019

Language:

english

File:

PDF, 719 KB

english, 2019

48

Hermansky–Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis

Esther B. Bachli, Thomas Brack, Elisabeth Eppler, Thomas Stallmach, Ralph M. Trüeb, Marjan Huizing, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 426 KB

english, 2004

49

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

Amanda Helip-Wooley, Wendy Westbroek, Heidi Dorward, Mieke Mommaas, Raymond E Boissy, William A Gahl, Marjan Huizing

Journal:

BMC Cell Biology

Year:

2005

Language:

english

File:

PDF, 3.62 MB

english, 2005

50

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

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

Journal:

Year:

2007

Language:

english

File:

PDF, 622 KB

english, 2007

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски