Works matching DE "CHEDIAK-Higashi syndrome"
Results: 61
Recurrent childhood PRES.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 9, p. 1603, doi. 10.1007/s10072-015-2212-3
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- Article
Inherited platelet disorders.
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- Haemophilia, 2012, v. 18, p. 154, doi. 10.1111/j.1365-2516.2012.02856.x
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- Article
Chediak-Higashi Syndrome: A Rare Case Report.
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- 2015
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- Publication type:
- Case Study
Multiple Pseudo-Chediak-Higashi Inclusions Associated with MYC Deletion in a Patient with Acute Myeloid Leukemia.
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- Acta Haematologica, 2015, v. 133, n. 4, p. 321, doi. 10.1159/000366095
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- Article
Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-019-56896-9
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- Article
Chediak-Higashi Syndrome: A Report of Three Cases from the North of Iran.
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- Pakistan Journal of Medical Research, 2014, v. 53, n. 2, p. 49
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- Article
Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder.
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- Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 12, p. 13, doi. 10.7860/JCDR/2015/15430.6906
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- Publication type:
- Article
Photoclinic.
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- 2019
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- Publication type:
- Case Study
Chediak--Higashi Syndrome Presented With Hemophagocytic Lymphohistiocytosis.
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- Indian Journal of Medical & Paediatric Oncology, 2018, v. 39, n. 1, p. 122, doi. 10.4103/ijmpo.ijmpo_54_16
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- Article
Novel MRI Finding of Bilateral Globus Pallidal Involvement in Accelerated Phase of Chédiak -Higashi Syndrome.
- Published in:
- 2020
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- Publication type:
- Case Study
Síndrome de Chediak-Higashi, o propósito de un coso clínico.
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- 2012
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- Case Study
CHEDIAK-HIGASHI SYNDROME: A NOVEL MUTATION.
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- Current Allergy & Clinical Immunology, 2024, v. 37, n. 1, p. 11
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- Publication type:
- Article
IDENTIFICATION OF LYST GENE IN IRAQI WATER BUFFALOES (BUBALUS BUBALIS) WITH CHEDIAK-HIGASHI SYNDROME BY RFLPPCR METHOD.
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- Biochemical & Cellular Archives, 2020, v. 20, n. 2, p. 5021
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- Publication type:
- Article
Accelerated Phase at Initial Presentation in Chédiak-Higashi Syndrome: Is It Really Uncommon ?
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- Pediatric Hematology & Oncology, 2014, v. 31, n. 4, p. 382, doi. 10.3109/08880018.2013.848386
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- Article
Chediak-Higashi sendromu: Bir vaka takdimi.
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- 2013
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- Publication type:
- Case Study
Chediak-Higashi syndrome presenting in the accelerated phase.
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- South African Journal of Child Health, 2017, v. 11, n. 2, p. 104, doi. 10.7196/SAJCH.2017.v11i2.1277
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- Article
Ultrastructural aspects of hairs of Chediak‐Higashi syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Familial Gigantic Melanocytosis: A Report of Rare Case.
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- 2023
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- Publication type:
- Case Study
Griscelli Syndrome in Skin of Color: A Trichoscopic Perspective.
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- Indian Journal of Dermatology, 2023, v. 68, n. 2, p. 192, doi. 10.4103/ijd.ijd_866_22
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- Article
Case series on silvery hair syndromes: Single center experience.
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- Indian Journal of Dermatology, 2022, v. 67, n. 2, p. 164, doi. 10.4103/ijd.IJD_723_20
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- Article
Molecular determinants of platelet delta storage pool deficiencies: an update.
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- British Journal of Haematology, 2013, v. 160, n. 1, p. 5, doi. 10.1111/bjh.12064
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- Article
Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.
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- Pediatric Radiology, 2015, v. 45, n. 8, p. 1253, doi. 10.1007/s00247-014-3256-x
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- Article
Erratum to: Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.
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- 2015
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- Erratum
Facial cutaneous pigmentation pattern helps differentiate between Griscelli syndrome and Chediak–Higashi syndrome.
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- Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15839
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- Article
Patient‐derived induced pluripotent stem cells underlie the pathogenesis of the diseases.
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- 2023
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- Publication type:
- Editorial
Granulocyte transfusion vs. neutropenia - is there a chance to win this battle?
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- Medical Research Journal (2451-2591), 2022, v. 7, n. 4, p. 321, doi. 10.5603/MRJ.a2022.0048
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- Article
Variants of LYST and Novel STK4 Gene Mutation in a Child With Accelerated Chediak Higashi Syndr.
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- 2024
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- Publication type:
- Case Study
Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.
- Published in:
- 2017
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- Publication type:
- Case Study
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.
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- International Journal of Trichology, 2015, v. 7, n. 3, p. 133, doi. 10.4103/0974-7753.167462
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- Article
Silvery Grey Hair: Clue to Diagnose Immunodeficiency.
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- International Journal of Trichology, 2012, v. 4, n. 2, p. 83, doi. 10.4103/0974-7753.96910
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- Publication type:
- Article
Silvery Hair Syndrome in Two Cousins: Chediak-Higashi Syndrome vs Griscelli Syndrome, with Rare Associations.
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- 2011
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- Publication type:
- Case Study
Large Granules in the Peripheral Blood Smear and Bone Marrow Aspirate of a 3-Year-Old Male With Lymphadenopathy and Fever.
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- Laboratory Medicine, 2014, v. 45, n. 3, p. 244, doi. 10.1309/LM7S87YMQFFJFUCB
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- Publication type:
- Article
Cover Image: A dashed hair.
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- British Journal of Dermatology, 2016, v. 174, n. 3, p. 697, doi. 10.1111/bjd.14363
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- Article
Chediak Higashi syndrome with acute kidney injury: Answers.
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- 2022
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- Question & Answer
Chediak Higashi syndrome with acute kidney injury: Questions.
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- 2022
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- Publication type:
- Question & Answer
Chediak- Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.
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- European Journal of Haematology, 2014, v. 92, n. 1, p. 49, doi. 10.1111/ejh.12203
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- Article
Boy with silvery grey hair and immunodeficiency.
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- 2016
- Publication type:
- journal article
Parkinsonism and Other Movement Disorders Associated with Chediak-Higashi Syndrome: Case Report and Systematic Literature Review.
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- Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 93, doi. 10.1002/mdc3.12111
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- Publication type:
- Article
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
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- International Journal of Dermatology, 2016, v. 55, n. 3, p. 317, doi. 10.1111/ijd.13019
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- Publication type:
- Article
Lessons Learned from Phagocytic Function Studies in a Large Cohort of Patients with Recurrent Infections.
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- Journal of Clinical Immunology, 2012, v. 32, n. 3, p. 454, doi. 10.1007/s10875-011-9633-4
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- Article
A case report of a Chediak‐Higashi syndrome diagnosed by peripheral blood smear.
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- International Journal of Laboratory Hematology, 2024, v. 46, n. 6, p. 994, doi. 10.1111/ijlh.14329
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- Publication type:
- Article
Acute lymphoblastic leukemia with pseudo‐Chediak‐Higashi granules in the initial diagnosis and relapse.
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- International Journal of Laboratory Hematology, 2024, v. 46, n. 5, p. 766, doi. 10.1111/ijlh.14271
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- Publication type:
- Article
Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 486, doi. 10.1186/s13023-014-0212-7
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- Article
Towards the targeted management of Chediak-Higashi syndrome.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0132-6
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- Publication type:
- Article
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-46
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- Publication type:
- Article
Pseudo-Chediak-Higashi Granules in a Case of Acute Lymphoblastic Leukemia Mimicking Acute Myeloid Leukemia.
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- Turkish Journal of Hematology, 2022, v. 39, n. 3, p. 213, doi. 10.4274/tjh.galenos.2022.2022.0123
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- Publication type:
- Article
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.
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- Turkish Journal of Hematology, 2017, v. 34, n. 4, p. 345, doi. 10.4274/tjh.2016.0477
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- Publication type:
- Article
Oral Lesions and Hematology.
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
About Chediak-Higashi, Hemoglobin Lansing, and Hemoglobin Jabalpur.
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis.
- Published in:
- 2014
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- Publication type:
- Case Study