Works matching Chediak-Higashi syndrome

Results: 318

Chediak- Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.

Published in:

European Journal of Haematology, 2014, v. 92, n. 1, p. 49, doi. 10.1111/ejh.12203

By:

Sánchez ‐ Guiu, Isabel;
Antón, Ana I.;
García ‐ Barberá, Nuria;
Navarro ‐ Fernández, José;
Martínez, Constantino;
Fuster, Jose L.;
Couselo, Jose M.;
Ortuño, Francisco J.;
Vicente, Vicente;
Rivera, Jose;
Lozano, Maria L.

Publication type:

Article

Chediak-Higashi Syndrome: A Report of Three Cases from the North of Iran.

Published in:

Pakistan Journal of Medical Research, 2014, v. 53, n. 2, p. 49

By:

Ghaffari, J.;
Abediannkenari, S.;
Rezaii, M. S.

Publication type:

Article

Chediak-Higashi sendromu: Bir vaka takdimi.

Published in:

2013

By:

Yıldırım, Zuhal Keskin;
Erdil, Abdullah;
Ceviz, Naci;
Büyükavcı, Mustafa

Publication type:

Case Study

Parkinsonism and Other Movement Disorders Associated with Chediak-Higashi Syndrome: Case Report and Systematic Literature Review.

Published in:

Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 93, doi. 10.1002/mdc3.12111

By:

Balint, Bettina;
Bhatia, Kailash P.

Publication type:

Article

Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.

Published in:

Pediatric Radiology, 2015, v. 45, n. 8, p. 1253, doi. 10.1007/s00247-014-3256-x

By:

Lolli, Valentina;
Soto Ares, Gustavo;
Pruvo, Jean-Pierre;
Abou Chahla, Wadih;
Jissendi-Tchofo, Patrice

Publication type:

Article

Unrelated cord blood transplantation can restore hematologic and immunologic functions in patients with Chediak-Higashi syndrome.

Published in:

Pediatric Transplantation, 2012, v. 16, n. 4, p. E99, doi. 10.1111/j.1399-3046.2010.01461.x

By:

Rihani, Rawad;
Barbar, Maha;
Faqih, Nesreen;
Halalsheh, Hadeel;
Hussein, Ayad Ahmad;
Al-Zaben, Abdul Hadi;
Rahman, Fawzi Abdel;
Sarhan, Mahmoud

Publication type:

Article

Towards the targeted management of Chediak-Higashi syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0132-6

By:

Lozano, Maria L.;
Rivera, Jose;
Sánchez-Guiu, Isabel;
Vicente, Vicente

Publication type:

Article

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-46

By:

Weisfeld-Adams, James D.;
Mehta, Lakshmi;
Rucker, Janet C.;
Dembitzer, Francine R.;
Szporn, Arnold;
Lublin, Fred D.;
Introne, Wendy J.;
Bhambhani, Vikas;
Chicka, Michael C.;
Cho, Catherine

Publication type:

Article

CHEDIAK-HIGASHI SYNDROME: A NOVEL MUTATION.

Published in:

Current Allergy & Clinical Immunology, 2024, v. 37, n. 1, p. 11

By:

Buldeo, Suvarna;
Pillay, Ashendri;
Chateau, Antoinette;
Dube-Pule, Anele;
Naicker, Thirona

Publication type:

Article

Chediak Higashi syndrome with acute kidney injury: Answers.

Published in:

2022

By:

Kalra, Suprita;
Khera, Sanjeev;
Sharma, Aditi;
Daryani, Hitesh;
Singh, Vikram

Publication type:

Question & Answer

Chediak Higashi syndrome with acute kidney injury: Questions.

Published in:

2022

By:

Kalra, Suprita;
Khera, Sanjeev;
Sharma, Aditi;
Daryani, Hitesh;
Singh, Vikram

Publication type:

Question & Answer

A New Method for Rapid Detection of the Mutant Allele for Chediak-Higashi Syndrome in Japanese Black Cattle.

Published in:

Journal of Veterinary Medical Science, 2013, v. 75, n. 9, p. 1237, doi. 10.1292/jvms.13-0063

By:

Ahmed ABDEEN;
Hiroko SONODA;
Ikuo KOBAYASHI;
Go KITAHARA;
Masahiro IKEDA

Publication type:

Article

Facial cutaneous pigmentation pattern helps differentiate between Griscelli syndrome and Chediak–Higashi syndrome.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15839

By:

Yamazaki‐Nakashimada, Marco Antonio;
Solis‐Gamboa, María Isabel;
Murata, Chiharu;
Saez‐de‐Ocariz, Marimar

Publication type:

Article

A Rare Cause of Recurrent Oral Lesions: Chediak-Higashi Syndrome.

Published in:

2014

By:

Karabel, Müsemma;
Kelekçi, Selvi;
Şen, Velat;
Karabel, Duran;
Aliosmanoğlu, Çiğdem;
Söker, Murat

Publication type:

Case Study

A case of Chediak-Higashi syndrome presented with accelerated phase could be treated effectively by unrelated cord blood transplantation.

Published in:

Pediatric Transplantation, 2017, v. 21, n. 7, p. n/a, doi. 10.1111/petr.13014

By:

Zhang, Yan;
Gao, Zhiyong;
Yu, Xinjian

Publication type:

Article

Allogeneic hematopoietic stem cell transplantation for Chediak- Higashi syndrome.

Published in:

Pediatric Transplantation, 2016, v. 20, n. 2, p. 271, doi. 10.1111/petr.12626

By:

Umeda, Katsutsugu;
Adachi, Souichi;
Horikoshi, Yasuo;
Imai, Kohsuke;
Terui, Kiminori;
Endo, Mikiya;
Mitsui, Tetsuo;
Kato, Keisuke;
Koh, Katsuyoshi;
Kajiwara, Ryosuke;
Ito, Rieko;
Otsuka, Yoshitoshi;
Inoue, Masami;
Ishii, Eiichi;
Yabe, Hiromasa

Publication type:

Article

IDENTIFICATION OF LYST GENE IN IRAQI WATER BUFFALOES (BUBALUS BUBALIS) WITH CHEDIAK-HIGASHI SYNDROME BY RFLPPCR METHOD.

Published in:

Biochemical & Cellular Archives, 2020, v. 20, n. 2, p. 5021

By:

Al-Autaish, Hassanin H. N.;
Hasso, Saleem A.

Publication type:

Article

Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis.

Published in:

2014

By:

Elevli, Murat;
Hatipoğlu, Halil Uğur;
Civilibal, Mahmut;
Duru, Nilgün Selçuk;
Celkan, Tiraje

Publication type:

Case Study

Chediak-Higashi Syndrome: A Rare Case Report.

Published in:

2015

By:

Garg, A.;
Nigwekar, P.;
Shrikhande, D.;
Kumar, C. Ashok;
Singh, V.;
Singh, A.

Publication type:

Case Study

Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-019-56896-9

By:

Buckley, R. M.;
Grahn, R. A.;
Gandolfi, B.;
Herrick, J. R.;
Kittleson, M. D.;
Bateman, H. L.;
Newsom, J.;
Swanson, W. F.;
Prieur, D. J.;
Lyons, L. A.

Publication type:

Article

Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.

Published in:

International Journal of Trichology, 2015, v. 7, n. 3, p. 133, doi. 10.4103/0974-7753.167462

By:

Raghuveer, Chekuri;
Murthy, Sambasiviah Chidambara;
Mithuna, Mallur N.;
Suresh, Tamraparni

Publication type:

Article

Silvery Hair Syndrome in Two Cousins: Chediak-Higashi Syndrome vs Griscelli Syndrome, with Rare Associations.

Published in:

2011

By:

Reddy, R. Raghunatha;
Babu, Balaji M.;
Venkateshwaramma, B.;
Hymavathi, C. H.

Publication type:

Case Study

Erratum to: Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.

Published in:

2015

By:

Lolli, Valentina;
Soto Ares, Gustavo;
Pruvo, Jean-Pierre;
Abou Chahla, Wadih;
Jissendi-Tchofo, Patrice

Publication type:

Erratum

Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder.

Published in:

Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 12, p. 13, doi. 10.7860/JCDR/2015/15430.6906

By:

JAISWAL, POOJA;
YADAV, YOGESH KUMAR;
BHASKER, NILAM;
KUSHWAHA, RASHMI

Publication type:

Article

Ultrastructural aspects of hairs of Chediak‐Higashi syndrome.

Published in:

2018

By:

De Almeida, Jr, H. L.;
Kiszewski, A. E.;
Vicentini Xavier, T.;
Pirolli, F.;
Antônio Suita De Castro, L. A.

Publication type:

Case Study

Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 486, doi. 10.1186/s13023-014-0212-7

By:

Le Wang;
Kantovitz, Kamila Rosamilia;
Cullinane, Andrew Robert;
Humberto Nociti Junior, Francisco;
Lee Foster, Brian;
Concepcion Roney, Joseph;
Bich Tran, Anne;
Introne, Wendy Jewell;
Somerman, Martha Joan

Publication type:

Article

A case report of a Chediak‐Higashi syndrome diagnosed by peripheral blood smear.

Published in:

International Journal of Laboratory Hematology, 2024, v. 46, n. 6, p. 994, doi. 10.1111/ijlh.14329

By:

Eskioglou, Stefanos;
Gheorghe, Loredana‐Mariana;
Tsagarakis, Nikolaos J.;
Chaliori, Ioulia;
Chaniotaki, Sofia

Publication type:

Article

A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.

Published in:

International Journal of Dermatology, 2016, v. 55, n. 3, p. 317, doi. 10.1111/ijd.13019

By:

Singh, Ankur;
Bryan, Melanie M.;
Roney, Joseph C.;
Cullinane, Andrew R.;
Gahl, William A.;
Khurana, Nita;
Kapoor, Seema

Publication type:

Article

Chediak-Higashi syndrome presenting in the accelerated phase.

Published in:

South African Journal of Child Health, 2017, v. 11, n. 2, p. 104, doi. 10.7196/SAJCH.2017.v11i2.1277

By:

Palaniyandi, S.;
Sivaprakasam, E.;
Pasupathy, U.;
Ravichandran, L.;
Rajendran, A.;
Suman, F. R.;
Rajendra Prasad, S.

Publication type:

Article

Accelerated Phase at Initial Presentation in Chédiak-Higashi Syndrome: Is It Really Uncommon ?

Published in:

Pediatric Hematology & Oncology, 2014, v. 31, n. 4, p. 382, doi. 10.3109/08880018.2013.848386

By:

Gajendra, Smeeta;
Das, Rashmi Ranjan;
Chopra, Anita;
Singh, Amitabh;
Seth, Rachna

Publication type:

Article

The Accelerated Phase of Chediak-Higashi Syndrome: The Importance of Hematological Evaluation.

Published in:

2013

By:

Bharti, Shreekant;
Bhatia, Prateek;
Bansal, Deepak;
Varma, Neelam

Publication type:

Case Study

Novel MRI Finding of Bilateral Globus Pallidal Involvement in Accelerated Phase of Chédiak -Higashi Syndrome.

Published in:

2020

By:

Kekatpure, Minal V.;
Bhat, Venkatraman

Publication type:

Case Study

Chediak--Higashi Syndrome Presented With Hemophagocytic Lymphohistiocytosis.

Published in:

Indian Journal of Medical & Paediatric Oncology, 2018, v. 39, n. 1, p. 122, doi. 10.4103/ijmpo.ijmpo_54_16

By:

Karaman, Kamuran;
Akbayram, Sinan;
Geylan, Hadi;
Çetin, Mecnun

Publication type:

Article

A Case of Chediak-Higashi Syndrome Presented with Hemophagocytic Lymphohistiocytosis.

Published in:

2011

By:

AKBAYRAM, Sinan;
AKGUN, Cihangir;
BASARANOGLU, Murat;
KAYA, Avni;
BALTA, Gunay;
Lokman USTYOL1;
YESILMEN, Osman;
DEGER, Ibrahim;
ONER, Ahmet F.

Publication type:

Case Study

Hemofagositik Lenfohlstiyositoz ve Chediak Higashi Sendromu.

Published in:

Journal of the Child / Çocuk Dergisi, 2014, v. 14, n. 1, p. 36, doi. 10.5222/j.child.2014.036

By:

VARKAL, Muhammet Ali;
YILMAZ, Cansu;
YILDIZ, İsmail;
KARAMAN, Serap;
KARAMAN, Birsen;
DOĞAN, Öner;
KILIÇ, Ayşe;
OĞUZ, Fatma;
DEVECİOĞLU, Ömer;
ÜNÜVAR, Emin

Publication type:

Article

SILVERY HAIR WITH IMMUNODEFICIENCY: A COMPARATIVE CLINICAL BRIEF OF GRISCELLI SYNDROME TYPE II AND CHEDIAK HIGASHI SYNDROME.

Published in:

Pediatric Oncall Journal, 2023, v. 20, n. 4, p. 149, doi. 10.7199/ped.oncall.2023.43

By:

Jondhale, Sunil;
Jagzape, Tushar;
Goel, Anil Kumar;
Tiwari, Kavita;
Singh, Tripty;
Sahoo, Manas Ranjan

Publication type:

Article

Large Granules in the Peripheral Blood Smear and Bone Marrow Aspirate of a 3-Year-Old Male With Lymphadenopathy and Fever.

Published in:

Laboratory Medicine, 2014, v. 45, n. 3, p. 244, doi. 10.1309/LM7S87YMQFFJFUCB

By:

McCoy, Morgan H.;
Mast, Kelley;
Relich, Ryan F.;
Girgis, George;
Nassiri, Mehdi

Publication type:

Article

Features of severe periodontal disease in a teenager with Chédiak-Higashi syndrome.

Published in:

2000

By:

Delcourt-Debruyne, Elisabeth M. C.;
Boutigny, Hervé R. A.;
Hildebrand, Hartmut F.;
Delcourt-Debruyne, E M;
Boutigny, H R;
Hildebrand, H F

Publication type:

journal article

Chediak–Higashi syndrome in the intensive care unit.

Published in:

Pediatric Anesthesia, 2004, v. 14, n. 8, p. 685, doi. 10.1111/j.1460-9592.2004.01257.x

By:

Demirkiran, Oktay;
Utku, Tughan;
Urkmez, Seval;
Dikmen, Yalim

Publication type:

Article

Localization of the locus responsible for Chediak–Higashi syndrome in cattle to bovine chromosome 28.

Published in:

Animal Genetics, 2000, v. 31, n. 2, p. 87, doi. 10.1046/j.1365-2052.2000.00607.x

By:

Kunieda, T;
Ide, H;
Nakagiri, M;
Yoneda, K;
Konfortov, B;
Ogawa, H

Publication type:

Article

Cardiac failure in an infant with Chediak–Higashi syndrome: A hypothesis of the effect of diadenosine polyphosphates.

Published in:

Pediatric Allergy & Immunology, 2002, v. 13, n. 4, p. 307, doi. 10.1034/j.1399-3038.2002.01052.x

By:

Ganschow, Rainer;
Grabhorn, Enke;
Lemke, Joachim;
Lepler, Rudolf

Publication type:

Article

Secretory Lysosome Biogenesis in Cytotoxic T Lymphocytes from Normal and Chediak Higashi Syndrome Patients.

Published in:

Traffic, 2000, v. 1, n. 5, p. 435, doi. 10.1034/j.1600-0854.2000.010508.x

By:

Stinchcombe, Jane C.;
Page, Lesley J.;
Griffiths, Gillian M.

Publication type:

Article

Influence of Azithromycin and Other Macrolides on the Intracellular Killing of Staphylococcusaureus by Human Polymorphonuclear Leucocytes of Healthy Donors and a Patient with Chédiak-Higashi Syndrome.

Published in:

Chemotherapy (0009-3157), 1992, v. 38, n. 3, p. 185, doi. 10.1159/000238961

By:

Paulsen, P.;
Simon, C.;
Peters, O.;
Hedderich, J.;
Heim, P.

Publication type:

Article

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.

Published in:

Pathology International, 2005, v. 55, n. 3, p. 137, doi. 10.1111/j.1440-1827.2005.01811.x

By:

Xiaoyan Tang;
Yamanaka, Shoji;
Miyagi, Yohei;
Nagashima, Yoji;
Nakatani, Yukio

Publication type:

Article

A thiol proteinase inhibitor, E-64-d, corrects the abnormalities in concanavalin A cap formation and the lysosomal enzyme activity in leucocytes from patients with Chediak–Higashi syndrome by reversing the down-regulated protein kinase C activity.

Published in:

Clinical & Experimental Immunology, 2001, v. 125, n. 2, p. 283, doi. 10.1046/j.1365-2249.2001.01598.x

By:

Cui, S.-H.;
Tanabe, F.;
Terunuma, H.;
Iwatani, Y.;
Nunoi, H.;
Agematsu, K.;
Komiyama, A.;
Nomura, A.;
Hara, T.;
Onodera, T.;
Iwata, T.;
Ito, M.

Publication type:

Article

Rare inclusion bodies within monocytes at accelerated phase of Chediak-Higashi syndrome.

Published in:

2018

By:

Yifeng Sun;
Yanhui Li;
Jihong Hao

Publication type:

Case Study

Gamma-Delta T Cells in Chediak-Higashi Syndrome.

Published in:

Acta Haematologica, 1990, v. 83, n. 4, p. 193, doi. 10.1159/000205212

By:

Holcombe, Randall F.;
van de Griend, René;
Ang, Siew-Lan;
Bolhuis, Reinder.L.H.;
Seidman, J.G.

Publication type:

Article

Biochemical Studies on the Leukocytes in Chediak-Higashi Syndrome.

Published in:

Acta Haematologica, 1977, v. 58, n. 1, p. 50, doi. 10.1159/000207806

By:

Zabucchi, G.;
Cramer, R.;
Soranzo, M.R.;
Tamaro, P.;
Panizon, F.

Publication type:

Article

Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi Syndrome.

Published in:

Platelets, 2013, v. 24, n. 1, p. 71, doi. 10.3109/09537104.2011.654293

By:

White, James G.;
Hess, Richard A.;
Gahl, William A.;
Introne, Wendy

Publication type:

Article

Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.

Published in:

2017

By:

Chandravathi, P. L.;
Karani, Hetal Deepak;
Siddaiahgari, Sirisha Rani;
Lingappa, Lokesh

Publication type:

Case Study