Search Results

Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS)

Authors: Scherber, E; Beutel, K; Ganschow, R; Schulz, A; Janka, G; Stadt, U zur

Source: Clinical Genetics, Volume 76, Number 4, October 2009 , pp. 409-412(4)

Publisher: Blackwell Publishing

A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes

Authors: Dessinioti, Clio; Stratigos, Alexander J.; Rigopoulos, Dimitris; Katsambas, Andreas D.

Source: Experimental Dermatology, Volume 18, Number 9, September 2009 , pp. 741-749(9)

Publisher: Blackwell Publishing

Behavior of retinal epithelium to bleb detachment versus retinectomy

Authors: Ivert, L.; Gouras, P.

Source: Graefe's Archive for Clinical and Experimental Ophthalmology, Volume 245, Number 2, February 2007 , pp. 282-287(6)

Publisher: Springer

Familial and acquired hemophagocytic lymphohistiocytosis

Author: Janka, Gritta

Source: European Journal of Pediatrics, Volume 166, Number 2, February 2007 , pp. 95-109(15)

Publisher: Springer

Consanguinity in Primary Immunodeficiency Disorders; the Report from Iranian Primary Immunodeficiency Registry

Authors: Rezaei, Nima; Pourpak, Zahra; Aghamohammadi, Asghar; Farhoudi, Abolhassan; Movahedi, Masoud; Gharagozlou, Mohammad; MirSaeid Ghazi, Bahram; Atarod, Lida; Abolmaali, Kamran; Mahmoudi, Maryam; Mansouri, Davoud; Arshi, Saba; Tarash, Naser Javaher; Sherkat, Roya; Amin, Reza; Kashef, Sara; Hosseini, Reza Farid; Mohammadzadeh, Iraj; Shabestari, Mehrnaz Sadeghi; Nabavi, Mohammad; Moin, Mostafa

Source: American Journal of Reproductive Immunology, Volume 56, Number 2, August 2006 , pp. 145-151(7)

Publisher: Blackwell Publishing

Distribution, Infections, Treatments and Molecular Analysis in a Large Cohort of Patients with Primary Immunodeficiency Diseases (PIDs) in Taiwan

Authors: Lee, Wen-I; Jaing, Tang-Her; Hsieh, Meng-Ying; Kuo, Ming-Ling; Lin, Syh-Jae; Huang, Jing-Long

Source: Journal of Clinical Immunology, Volume 26, Number 3, May 2006 , pp. 274-283(10)

Publisher: Springer

Qualitative disorders of platelets and megakaryocytes

Author: NURDEN, A. T.

Source: Journal of Thrombosis and Haemostasis, Volume 3, Number 8, August 2005 , pp. 1773-1782(10)

Publisher: Blackwell Publishing

Cutaneous signs of neonatal and infantile immunodeficiency

Authors: Mirchandani, Nina; Hawit, Faris; Silverberg, NanetteB.

Source: Dermatologic Therapy, Volume 18, Number 2, March 2005 , pp. 176-183(8)

Publisher: Blackwell Publishing

Lung pathology of pale ear mouse (model of Hermansky–Pudlak syndrome 1) and beige mouse (model of Chediak–Higashi syndrome): Severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation

Authors: Xiaoyan Tang; Shoji Yamanaka; Yohei Miyagi; Yoji Nagashima; Yukio Nakatani

Source: Pathology International, Volume 55, Number 3, March 2005 , pp. 137-143(7)

Publisher: Blackwell Publishing

Evaluating the leukogram in the dog and cat

Authors: Petanides, T.A.; Mylonakis, M.E.; Koutinas, A.F.

Source: Journal of the Hellenic Veterinary Medical Society, Volume 55, Number 2, April 2004 , pp. 130-135(6)

Publisher: Hellenic Veterinary Medical Society

Bph1p, the Saccharomyces cerevisiae Homologue of CHS1/Beige, Functions in Cell Wall Formation and Protein Sorting

Authors: Shelly L. Shiflett; Michael B Vaughn; Dinh Huynh; Jerry Kaplan; Diane McVey Ward

Source: Traffic, Volume 5, Number 9, September 2004 , pp. 700-710(11)

Publisher: Blackwell Publishing

Elejalde Syndrome: Report of a Case and Review of the Literature

Authors: Juliana Burihan Cahali; Solange Assuncion Villagra Fernandez; Zilda Najjar Prado Oliveira; Maria Cecília da Mata Rivitti Machado; Neusa Sakai Valente; Mírian Nacagami Sotto

Source: Pediatric Dermatology, Volume 21, Number 4, July 2004 , pp. 479-482(4)

Publisher: Blackwell Publishing

Chédiak–Higashi syndrome

Authors: Barton L.M.; Roberts P.; Trantou V.; Haworth C.; Kelsey H.; Blamires T.

Source: British Journal of Haematology, Volume 125, Number 1, April 2004 , pp. 2-2(1)

Publisher: Blackwell Publishing

Accelerated Phase at Initial Presentation: An Uncommon Occurrence in Chédiak-Higashi Syndrome

Authors: Ahluwalia J.; Pattari S.; Trehan A.; Marwaha R.K.; Garewal G.

Source: Pediatric Hematology and Oncology, Volume 20, Number 7, Oct-Nov 2003 , pp. 563-567(5)

Publisher: Informa Healthcare

Epstein-Barr virus-associated haemophagocytic lymphohistiocytosis in Wiskott-Aldrich syndrome

Authors: S Pasic; D Micic; M Kuzmanovic

Source: Acta Paediatrica, Volume 92, Number 7, July 2003 , pp. 859-861(3)

Publisher: Informa Healthcare

Chediak-Higashi syndrome: four cases from Northern Finland

Authors: M Möttönen; M Lanning; P Baumann; UM Saarinen-Pihkala

Source: Acta Paediatrica, Volume 92, Number 9, September 2003 , pp. 1047-1051(5)

Publisher: Informa Healthcare

Melanosomes and MHC class II antigen-processing compartments: A tinted view of intracellular trafficking and immunity

Authors: Marks, Michael; Theos, Alexander; Raposo, Graça

Source: Immunologic Research, Volume 27, Numbers 2-3, June 2003 , pp. 409-425(17)

Publisher: Humana Press

Chediak-Higashi Syndrome with Progressive Visual Loss

Authors: Sayanagi K.; Fujikado T.; Onodera T.; Tano Y.

Source: Japanese Journal of Ophthalmology, Volume 47, Number 3, May 2003 , pp. 304-306(3)

Publisher: Elsevier

Use of Expression Constructs to Dissect the Functional Domains of the CHS/Beige Protein: Identification of Multiple Phenotypes

Authors: Ward D.M.; Shiflett S.L.; Huynh D.; Vaughn M.B.; Prestwich G.; Kaplan J.

Source: Traffic, Volume 4, Number 6, June 2003 , pp. 403-415(13)

Publisher: Blackwell Publishing

Chediak–Higashi Syndrome: A Rare Disorder of Lysosomes and Lysosome Related Organelles

Authors: Shiflett S.L.; Kaplan J.; WARD D.M.

Source: Pigment Cell Research, Volume 15, Number 4, August 2002 , pp. 251-257(7)

Publisher: Blackwell Publishing