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Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

Journal of medical genetics, 2009-12, Vol.46 (12), p.803-810

2009

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Expression of CTNS Alleles: Subcellular Localization and Aminoglycoside Correction in Vitro

Molecular genetics and metabolism, 2002-02, Vol.75 (2), p.128-133

2002

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Detection of hemizygosity in Hermansky - Pudlak syndrome by quantitative real-time PCR

Clinical genetics, 2005-07, Vol.68 (1), p.23-30

2005

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Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells

Journal of the American Society of Nephrology, 2002-12, Vol.13 (12), p.2878-2887

2002

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

The American journal of pathology, 2005, Vol.166 (1), p.231-240

2005

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

Traffic (Copenhagen, Denmark), 2004-09, Vol.5 (9), p.711-722

2004

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Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes

Experimental cell research, 2004, Vol.292 (1), p.89-100

2004

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

Annals of human genetics, 2009-07, Vol.73 (4), p.422-428

2009

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Detection of hemizygosity in Hermansky - Pudlak syndrome by quantitative real-time PCR: Detection of HPS1 hemizygosity by qPCR

Clinical genetics, 2005-07, Vol.68 (1), p.23-30

2005

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

BMC cell biology, 2005-09, Vol.6, p.33

2005

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Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

Annual review of genomics and human genetics, 2008-01, Vol.9 (1), p.359-386

2008

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Localization and Clathrin binding of the Hermansky-Pudlak syndrome type 3 protein

Pigment cell research, 2004-08, Vol.17 (4), p.428-429

2004

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IL-25 Hermansky-Pudlak syndrome: a model for abnormal vesicle formation and trafficking

Pigment cell research, 2003-10, Vol.16 (5), p.584-584

2003

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The Cell biology of Hermansky-Pudlak syndrome

Pigment cell research, 2004-08, Vol.17 (4), p.428-428

2004

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Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis

American journal of respiratory cell and molecular biology, 2014-03, Vol.50 (3), p.605-613

2014

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

Journal of investigative dermatology, 2007-06, Vol.127 (6), p.1471-1478

2007

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

Human mutation, 2006-11, Vol.27 (11), p.1158-1158

2006

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Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1

American journal of respiratory and critical care medicine, 2009-12, Vol.180 (11), p.1114-1121

2009

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Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex

Blood, 2004-11, Vol.104 (10), p.3181-3189

2004

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Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1

American journal of respiratory and critical care medicine, 2009-12, Vol.180 (11), p.1114-1121

2009

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

Journal of investigative dermatology, 2007-11, Vol.127 (11), p.2674-2677

2007

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A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

Molecular genetics and metabolism, 2008-06, Vol.94 (2), p.248-254

2008

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

Molecular genetics and metabolism, 2008-02, Vol.93 (2), p.134-144

2008

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

Platelets (Edinburgh), 2007-03, Vol.18 (2), p.150-157

2007

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Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

Expression of CTNS Alleles: Subcellular Localization and Aminoglycoside Correction in Vitro

Detection of hemizygosity in Hermansky - Pudlak syndrome by quantitative real-time PCR

Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells

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

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

Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes

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

Detection of hemizygosity in Hermansky - Pudlak syndrome by quantitative real-time PCR: Detection of HPS1 hemizygosity by qPCR

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

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

Localization and Clathrin binding of the Hermansky-Pudlak syndrome type 3 protein

IL-25 Hermansky-Pudlak syndrome: a model for abnormal vesicle formation and trafficking

The Cell biology of Hermansky-Pudlak syndrome

Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome

Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis

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

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

Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1

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

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

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

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

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