Works matching DE "GRISCELLI syndrome"

Results: 40

Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion.

Published in:

Pediatric Allergy & Immunology, 2014, v. 25, n. 8, p. 817, doi. 10.1111/pai.12285

By:

Yılmaz, Mustafa;
Çağdaş, Deniz;
Grandin, Virginie;
Altıntaş, Derya Ufuk;
Tezcan, İlhan;
Saint Basile, Geneviève;
Sanal, Özden

Publication type:

Article

Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 10, p. 1527, doi. 10.1007/s00431-012-1765-x

By:

Çağdaş, Deniz;
Özgür, Tuba;
Asal, Gülten;
Tezcan, İlhan;
Metin, Ayşe;
Lambert, Nathalie;
Saint Basile, Geneiveve;
Sanal, Özden

Publication type:

Article

Hemophagocytic Lymphohistiocytosis in Infants: A Single Center Experience from India.

Published in:

Pediatric Hematology & Oncology, 2014, v. 31, n. 3, p. 285, doi. 10.3109/08880018.2013.862754

By:

Ramzan, Mohammed;
Yadav, Satya Prakash;
Kharya, Gaurav;
Chinnabhandar, Vasant;
Enteserian, Miriam;
Henter, J Inge;
Sachdeva, Anupam

Publication type:

Article

Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.

Published in:

Modern Rheumatology, 2021, v. 31, n. 6, p. 1171, doi. 10.1080/14397595.2021.1886627

By:

Al-Mayouf, Sulaiman M.;
Alreefi, Hajar A.;
Alsinan, Tuqa A.;
AlSalmi, Ghada;
AlRowais, Abdulaziz;
Al-Herz, Waleed;
Alazami, Anas M.;
Alsonbul, Abdullah;
Al-Mousa, Hamoud

Publication type:

Article

Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.

Published in:

Pediatric Transplantation, 2017, v. 21, n. 7, p. n/a, doi. 10.1111/petr.13040

By:

Kuskonmaz, Baris;
Ayvaz, Deniz;
Gokce, Muge;
Ozgur, Tuba Turul;
Okur, Fatma V.;
Cetin, Mualla;
Tezcan, Ilhan;
Uckan Cetinkaya, Duygu

Publication type:

Article

Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2.

Published in:

Pediatric Transplantation, 2013, v. 17, n. 5, p. 487, doi. 10.1111/petr.12092

By:

Hamidieh, Amir Ali;
Pourpak, Zahra;
Yari, Kolsoum;
Fazlollahi, Mohammad Reza;
Hashemi, Susan;
Behfar, Maryam;
Moin, Mostafa;
Ghavamzadeh, Ardeshir

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

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

Absence of Platelet Phenotype in Mice Lacking the Motor Protein Myosin Va.

Published in:

PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053239

By:

Harper, Matthew T.;
Van Den Bosch, Marion T. J.;
Hers, Ingeborg;
Poole, Alastair W.

Publication type:

Article

Essential Role of RAB27A in Determining Constitutive Human Skin Color.

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041160

By:

Yoshida-Amano, Yasuko;
Hachiya, Akira;
Ohuchi, Atsushi;
Kobinger, Gary P.;
Kitahara, Takashi;
Takema, Yoshinori;
Fukuda, Mitsunori

Publication type:

Article

Non-Pathogenic Heterozygous Polymorphism in RAB27A Gene in a Case Suspicious to Griscelli Syndrome, Type II.

Published in:

Acta Medica Iranica, 2018, v. 56, n. 8, p. 494

By:

Eghbali, Aziz;
Rahmani, Farzaneh;
Aryan, Zahra;
Borkhardt, Arndt;
Tanzifi, Parin;
Zoghi, Samaneh;
Rezaei, Nima

Publication type:

Article

Griscelli syndrome type 2 - A case report and clinical approach to silver blonde hair.

Published in:

Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 2, p. 229, doi. 10.1016/j.ejmhg.2015.08.008

By:

Durrani, Sana;
Chicka, Michael;
Afroze, Bushra

Publication type:

Article

Griscelli syndrome: A rare disorder.

Published in:

2017

By:

Sahu, Chandradev;
Netam, Satyabhuwan Singh;
Bhutada, Bhagyashri R.;
Jaiswal, Shreyas J.

Publication type:

journal article

Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome.

Published in:

Journal of Pediatric Research, 2019, v. 6, n. 3, p. 252, doi. 10.4274/jpr.galenos.2018.33254

By:

Töret, Ersin;
Ay, Yılmaz;
Aksoylar, Serap;
Karapınar1, Tuba Hilkay;
Oymak, Yeşim

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

Griscelli syndrome with malnutrition: a diagnostic challenge.

Published in:

Dermatology Review / Przeglad Dermatologiczny, 2022, v. 109, n. 2, p. 1, doi. 10.5114/dr.2022.117985

By:

Singh, Jyoti;
Adil, Mohammad;
Amin, Syed Suhail;
Zahra, Fatima Tuz

Publication type:

Article

Griscelli syndrome type-3.

Published in:

Indian Dermatology Online Journal, 2016, v. 7, n. 6, p. 506, doi. 10.4103/2229-5178.193910

By:

Shah, Bela J.;
Jagati, Ashish K.;
Katrodiya, Nilesh K.;
Patel, Sonal M.

Publication type:

Article

Griscelli Syndrome: A Case Report.

Published in:

2014

By:

MANSOURI NEJAD, Seyed Ebrahim;
TAYYEBI MEIBODI, Naser;
ASHRAFZADEH, Farah;
BEIRAGHI TOOSI, Mehran;
ESLAMIEH, Hossein;
AKHONDIAN, Javad;
YAZDAN PANAH, Mohammad Javad

Publication type:

Case Study

End-stage Renal Disease in Griscelli Syndrome.

Published in:: Indian Journal of Nephrology, 2022, v. 32, n. 5, p. 521, doi. 10.4103/ijn.ijn_425_21
Publication type:: Article

Elejalde syndrome: Case presentation.

Published in:

Journal of Pakistan Association of Dermatologists, 2014, v. 24, n. 4, p. 351

By:

Shanehsaz, Siavash M.;
Rezazadeh, Azadeh;
Dandashli, Anwar

Publication type:

Article

Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.

Published in:

2018

By:

Sefsafi, Zakia;
El Hasbaoui, Brahim;
Kili, Amina;
Agadr, Aomar;
Khattab, Mohammed

Publication type:

Case Study

Cellular and clinical report of new Griscelli syndrome type III cases.

Published in:

Pigment Cell & Melanoma Research, 2012, v. 25, n. 1, p. 47, doi. 10.1111/j.1755-148X.2011.00901.x

By:

Westbroek, Wendy;
Klar, Aharon;
Cullinane, Andrew R.;
Ziegler, Shira G.;
Hurvitz, Haggit;
Ganem, Ashraf;
Wilson, Kirkland;
Dorward, Heidi;
Huizing, Marjan;
Tamimi, Haled;
Vainshtein, Igor;
Berkun, Yackov;
Lavie, Moran;
Gahl, William A.;
Anikster, Yair

Publication type:

Article

Boy with silvery grey hair and immunodeficiency.

Published in:: 2016
Publication type:: journal article

Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.

Published in:

Applied Microscopy, 2021, v. 51, n. 1, p. 1, doi. 10.1186/s42649-021-00067-6

By:

Bhattarai, Dharmagat;
Banday, Aaqib Zaffar;
Sadanand, Rohit;
Arora, Kanika;
Kaur, Gurjit;
Sharma, Satish;
Rawat, Amit

Publication type:

Article

Cutaneous granulomas in Griscelli type 2 syndrome.

Published in:

International Journal of Dermatology, 2016, v. 55, n. 7, p. 804, doi. 10.1111/ijd.13147

By:

Navarrete, Carmen L.;
Araníbar, Ligia;
Mardones, Felipe;
Avila, Ricardo;
Velozo, Luis

Publication type:

Article

A 15-year-old boy with silvery white hair, hepatosplenomegaly, and pancytopenia.

Published in:

International Journal of Dermatology, 2015, v. 54, n. 4, p. 393, doi. 10.1111/ijd.12696

By:

Jindal, Rashmi;
Shirazi, Nadia

Publication type:

Article

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis.

Published in:

2018

By:

Batrani, Meenakshi;
Thole, Akhilesh;
Kubba, Asha;
Mahajan, Khushbu

Publication type:

Case Study

Abstracts presented at the 49<sup>th</sup> Annual Meeting of the American Society of Dermatopathology October 11-14,2012 Chicago, Illinois USA.

Published in:: 2013
Publication type:: Abstract

Oral features of Griscelli syndrome type II: A rare case report.

Published in:

2018

By:

Tewari, Nitesh;
Rajwar, Anju;
Mathur, Vijay Prakash;
Chaudhari, Prabhat Kumar

Publication type:

Case Study

Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

Published in:

Pediatric Dermatology, 2018, v. 35, n. 6, p. 780, doi. 10.1111/pde.13624

By:

Ridaura‐Sanz, Cecilia;
Durán‐McKinster, Carola;
Ruiz‐Maldonado, Ramón

Publication type:

Article

A case of silvery hair syndrome: Griscelli syndrome.

Published in:

2015

By:

Khemka, Priti;
Kundu, Ritabrata;
Niyogi, Prabal;
Tudu, Joydev

Publication type:

Case Study

Griscelli Syndrome: Hemophagocytic Lymphohistiocytosis with Silvery Hair.

Published in:

2012

By:

Mahalingashetti, Prashant B.;
Krishnappa, Manjunatha H.;
Pawan Kalyan, Pinnamaneni Shameem;
Subramanian, Ramaswamy A.;
Padhy, Suneeta

Publication type:

Letter

Further evidence for genotype-phenotype disparity in Griscelli syndrome.

Published in:

British Journal of Dermatology, 2017, v. 176, n. 4, p. 1086, doi. 10.1111/bjd.14866

By:

Lee, J.Y.W.;
Eldeeb, M.S.;
Hsu, C. ‐ K.;
Saito, R.;
Abouzeid, S.A.;
McGrath, J.A.

Publication type:

Article

Secondary Hemophagocytic Syndrome: The Importance of Clinical Suspicion.

Published in:

2014

By:

Oliveira, Cristina;
Chacim, Sérgio;
Ferreira, Isabel;
Domingues, Nelson;
Mariz, José Mário

Publication type:

Case Study

Familial Gigantic Melanocytosis: A Report of Rare Case.

Published in:

2023

By:

Nair, Veena U.;
Patil, Meghana;
Basavaraju, Jayashree;
Kudligi, Chandramohan;
Choukimath, Sharanabasava M.

Publication type:

Case Study

Griscelli Syndrome in Skin of Color: A Trichoscopic Perspective.

Published in:

Indian Journal of Dermatology, 2023, v. 68, n. 2, p. 192, doi. 10.4103/ijd.ijd_866_22

By:

Shah, Swapnil D.;
Ankad, Balachandra S.;
Smitha, Sankappanavara V.

Publication type:

Article

Case series on silvery hair syndromes: Single center experience.

Published in:

Indian Journal of Dermatology, 2022, v. 67, n. 2, p. 164, doi. 10.4103/ijd.IJD_723_20

By:

Siddiahgari, Sirisharani;
Soma, Santosh;
Penmetcha, Chandravathi;
Vaddadi, Sandhya;
Bandi, Varshini;
Lingappa, Lokesh

Publication type:

Article

Case Review. An Indian Boy with Griscelli Syndrome Type 2: Case Report and Review of Literature.

Published in:

Indian Journal of Dermatology, 2014, v. 59, n. 4, p. 394, doi. 10.4103/0019-5154.135494

By:

Singh, Ankur;
Garg, Amit;
Kapoor, Seema;
Khurana, Nita;
Entesarian, Miriam;
Tesi, Bianca

Publication type:

Article