Literature DB >> 20456745

Hermansky-Pudlak syndrome: the importance of molecular subtyping.

N Thielen, M Huizing, J G Krabbe, J G White, T J Jansen, P A Merle, W A Gahl, S Zweegman.   

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Year:  2010        PMID： 20456745      PMCID： PMC2909352          DOI： 10.1111/j.1538-7836.2010.03898.x

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN： 1538-7836            Impact factor:   5.824


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  7 in total

Review 1.  Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

Authors:  Marjan Huizing; Amanda Helip-Wooley; Wendy Westbroek; Meral Gunay-Aygun; William A Gahl
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

2.  Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

Authors:  Pedro J Santiago Borrero; Yolanda Rodríguez-Pérez; Jessicca Y Renta; Natalio J Izquierdo; Laura Del Fierro; Daniel Muñoz; Norma López Molina; Sonia Ramírez; Glorivee Pagán-Mercado; Idith Ortíz; Enid Rivera-Caragol; Richard A Spritz; Carmen L Cadilla
Journal:  J Invest Dermatol       Date:  2006-01       Impact factor: 8.551

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

Authors:  M Huizing; Y Anikster; D L Fitzpatrick; A B Jeong; M D'Souza; M Rausche; J R Toro; M I Kaiser-Kupfer; J G White; W A Gahl
Journal:  Am J Hum Genet       Date:  2001-10-03       Impact factor: 11.025

Review 4.  Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Authors:  Maria L Wei
Journal:  Pigment Cell Res       Date:  2006-02

5.  Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.

Authors:  William A Gahl; Mark Brantly; James Troendle; Nilo A Avila; Antonio Padua; Carlos Montalvo; Hilda Cardona; Karim Anton Calis; Bernadette Gochuico
Journal:  Mol Genet Metab       Date:  2002-07       Impact factor: 4.797

6.  Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.

Authors:  Richard H Clark; Jane C Stinchcombe; Anna Day; Emma Blott; Sarah Booth; Giovanna Bossi; Terry Hamblin; E Graham Davies; Gillian M Griffiths
Journal:  Nat Immunol       Date:  2003-10-19       Impact factor: 25.606

7.  Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.

Authors:  Matt Wenham; Samantha Grieve; Michelle Cummins; Matthew L Jones; Sarah Booth; Rachel Kilner; Philip J Ancliff; Gillian M Griffiths; Andrew D Mumford
Journal:  Haematologica       Date:  2009-08-13       Impact factor: 9.941
  7 in total
  6 in total

1.  Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

Authors:  Susan Lee; Lisa A Schimmenti; Richard A King; Murray Brilliant; Jennifer L Anderson; Cheri Schoonveld; C Gail Summers
Journal:  J AAPOS       Date:  2015-12       Impact factor: 1.220

2.  Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.

Authors:  Joel Rivera-Concepción; Jorge Acevedo-Canabal; Antonio Burés; Gustavo Vargas; Carmen Cadilla; Natalio J Izquierdo
Journal:  Eur J Haematol       Date:  2019-03-06       Impact factor: 2.997

Review 3.  Hypomelanoses in children.

Authors:  Nanja van Geel; Marijn Speeckaert; Ines Chevolet; Sofie De Schepper; Hilde Lapeere; Barbara Boone; Reinhart Speeckaert
Journal:  J Cutan Aesthet Surg       Date:  2013-04

Review 4.  Platelets: still a therapeutical target for haemostatic disorders.

Authors:  Reinaldo Barros Geraldo; Plínio Cunha Sathler; André Luiz Lourenço; Max Seidy Saito; Lucio M Cabral; Pabulo Henrique Rampelotto; Helena Carla Castro
Journal:  Int J Mol Sci       Date:  2014-10-07       Impact factor: 5.923

5.  Hermansky-Pudlak syndrome: Mutation update.

Authors:  Marjan Huizing; May C V Malicdan; Jennifer A Wang; Hadass Pri-Chen; Richard A Hess; Roxanne Fischer; Kevin J O'Brien; Melissa A Merideth; William A Gahl; Bernadette R Gochuico
Journal:  Hum Mutat       Date:  2020-01-23       Impact factor: 4.700

Review 6.  Role and New Insights of Pirfenidone in Fibrotic Diseases.

Authors:  David Alejandro Lopez-de la Mora; Cibeles Sanchez-Roque; Margarita Montoya-Buelna; Sergio Sanchez-Enriquez; Silvia Lucano-Landeros; Jose Macias-Barragan; Juan Armendariz-Borunda
Journal:  Int J Med Sci       Date:  2015-10-14       Impact factor: 3.738
  6 in total

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