Works matching DE "CHEDIAK-Higashi syndrome"

Results: 62

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 neuropsychological phenotype of Chediak-Higashi disease.

Published in:

2019

By:

Shirazi, Talia N.;
Snow, Joseph;
Ham, Lillian;
Raglan, Greta B.;
Wiggs, Edythe A.;
Summers, Angela C.;
Toro, Camilo;
Introne, Wendy J.

Publication type:

journal 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

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

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

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 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

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

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 Grey Hair: Clue to Diagnose Immunodeficiency.

Published in:

International Journal of Trichology, 2012, v. 4, n. 2, p. 83, doi. 10.4103/0974-7753.96910

By:

Sahana, M. S.;
Sacchidanand, S.;
Hiremagalore, R.;
Asha, G. S.

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

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

Variants of LYST and Novel STK4 Gene Mutation in a Child With Accelerated Chediak Higashi Syndr.

Published in:

2024

By:

Bakar, Asrar Abu;
Shunmugarajoo, Haema;
Nachiappan, Jeyaseelan P.;
Ismail, Intan Hakimah

Publication type:

Case Study

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

Morphological abnormalities of blood and bone marrow leukocytes and age-related changes in different leukocyte counts in the American mink (Neovison vison).

Published in:

Turkish Journal of Veterinary & Animal Sciences, 2017, v. 41, n. 4, p. 570, doi. 10.3906/vet-1610-82

By:

KIZHINA, Aleksandra;
UZENBAEVA, Lyudmila;
ILYUKHA, Viktor;
TYUTYUNNIK, Nikolay

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

Patient‐derived induced pluripotent stem cells underlie the pathogenesis of the diseases.

Published in:

2023

By:

Kanegane, Hirokazu

Publication type:

Editorial

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

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 sendromu: Bir vaka takdimi.

Published in:

2013

By:

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

Publication type:

Case Study

Photoclinic.

Published in:

2019

By:

Mozafari, Rambod;
Rajabnia, Mohsen;
Naleini, Seyyed Nima

Publication type:

Case Study

Giant granules in white blood cells.

Published in:

2025

By:

Schuff-Werner, Peter;
Junghanss, Christian

Publication type:

Case Study

Granulocyte transfusion vs. neutropenia - is there a chance to win this battle?

Published in:

Medical Research Journal (2451-2591), 2022, v. 7, n. 4, p. 321, doi. 10.5603/MRJ.a2022.0048

By:

Szumowski, Artur;
Radziwon, Piotr Marek

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 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

Molecular determinants of platelet delta storage pool deficiencies: an update.

Published in:

British Journal of Haematology, 2013, v. 160, n. 1, p. 5, doi. 10.1111/bjh.12064

By:

Masliah‐Planchon, Julien;
Darnige, Luc;
Bellucci, Sylvia

Publication type:

Article

Síndrome de Chediak-Higashi, o propósito de un coso clínico.

Published in:

2012

By:

Hernández, Armando Quer;
Solís, Rubén M Alvarez;
Navarro, Luis Manuel Sánchez

Publication type:

Case Study

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

Multiple Pseudo-Chediak-Higashi Inclusions Associated with MYC Deletion in a Patient with Acute Myeloid Leukemia.

Published in:

Acta Haematologica, 2015, v. 133, n. 4, p. 321, doi. 10.1159/000366095

By:

Vargas, Maria Teresa;
Escamilla, Virginia;
Morales-Camacho, Rosario M.;
Prats, Concepcion;
Caballero-Velázquez, Teresa;
Bernal, Ricardo;
Pérez Simón, Jose A.

Publication type:

Article

Boy with silvery grey hair and immunodeficiency.

Published in:: 2016
Publication type:: journal 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

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

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

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

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

Inherited platelet disorders.

Published in:

Haemophilia, 2012, v. 18, p. 154, doi. 10.1111/j.1365-2516.2012.02856.x

By:

NURDEN, A. T.;
FRESON, K.;
SELIGSOHN, U.

Publication type:

Article

A Girl with Gray Hair and Pyogenic Infections.

Published in:

Pediatric Dermatology, 2017, v. 34, n. 5, p. 607, doi. 10.1111/pde.13202

By:

Palencia‐Pérez, Sara;
Tous‐Romero, Fátima;
Delgado‐Márquez, Ana María

Publication type:

Article

Comparative genomics and host resistance against infectious diseases.

Published in:

1999

By:

Qureshi, Salman T.;
Skamene, Emil;
Malo, Danielle;
Qureshi, S T;
Skamene, E;
Malo, D

Publication type:

journal article

A case report of unresolved pneumonia in an adult patient in ICU.

Published in:

2024

By:

Alshimemeri, A.;
Al-Mishari, H.;
Ibrahim, G.;
Aly, IE;
Al-Shimemeri, S.;
Almajid, F.

Publication type:

Case Study

Lessons Learned from Phagocytic Function Studies in a Large Cohort of Patients with Recurrent Infections.

Published in:

Journal of Clinical Immunology, 2012, v. 32, n. 3, p. 454, doi. 10.1007/s10875-011-9633-4

By:

Wolach, Baruch;
Gavrieli, Ronit;
Roos, Dirk;
Berger-Achituv, Sivan

Publication type:

Article

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

Recurrent childhood PRES.

Published in:

Neurological Sciences, 2015, v. 36, n. 9, p. 1603, doi. 10.1007/s10072-015-2212-3

By:

Donmez, Fuldem;
Agildere, Ahmet

Publication type:

Article

Cover Image: A dashed hair.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 3, p. 697, doi. 10.1111/bjd.14363

By:

Pirmez, R.;
Rei, M.

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

Acute lymphoblastic leukemia with pseudo‐Chediak‐Higashi granules in the initial diagnosis and relapse.

Published in:

International Journal of Laboratory Hematology, 2024, v. 46, n. 5, p. 766, doi. 10.1111/ijlh.14271

By:

Li, Rongjie;
Xia, Shimei;
Liao, Yingyan;
Zhou, Bailing

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