(Q24536114)

English

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

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scholarly article

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Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency (English)

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Hermansky-Pudlak syndrome

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based on heuristic

inferred from title

author name string

M Huizing

1

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Y Anikster

2

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D L Fitzpatrick

3

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A B Jeong

4

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M D'Souza

5

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M Rausche

6

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J R Toro

7

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M I Kaiser-Kupfer

8

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J G White

9

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W A Gahl

10

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language of work or name

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publication date

November 2001

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American Journal of Human Genetics

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69

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5

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1022-32

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Mutations of Bacteria from Virus Sensitivity to Virus Resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

Characterization of the adaptor-related protein complex, AP-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

AP-3: an adaptor-like protein complex with ubiquitous expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

Beta3A-adaptin, a subunit of the adaptor-like complex AP-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

A syndrome associating partial albinism and immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

27 September 2017

Hermansky-Pudlak syndrome and related disorders of organelle formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

27 September 2017

Molecular basis of mendelian disorders among Jews

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

27 September 2017

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

27 September 2017

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

27 September 2017

Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

27 September 2017

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

27 September 2017

Hermansky-Pudlak syndrome with granulomatous colitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

27 September 2017

Albinism and Hermansky-Pudlak syndrome in Puerto Rico

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

27 September 2017

A novel adaptor-related protein complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

27 September 2017

Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

30 May 2018

Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

30 May 2018

Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

29 November 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274349

29 November 2018

Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/11590544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hermansky-Pudlak syndrome. Ophthalmic findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/11590544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hermansky-Pudlak syndrome with granulomatous colitis in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/11590544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis)

1 reference

https://pubmed.ncbi.nlm.nih.gov/11590544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11590544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11590544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11590544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/11590544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mouse models of Hermansky Pudlak syndrome: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/11590544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hermansky-Pudlak syndrome: models for intracellular vesicle formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11590544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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