Works matching DE "BLAU syndrome"

Results: 55

Camptodactyly and rash: Common clues for Blau syndrome and H syndrome.

Published in:

Ümraniye Pediatri Dergisi, 2022, v. 2, n. 3, p. 121, doi. 10.14744/upd.2022.98598

By:

Çakan, Mustafa;
Yener, Gülçin Otar

Publication type:

Article

RETROSPECTIVE DIAGNOSIS OF BLAU SYNDROME.

Published in:

2018

By:

Ellis, Jessica;
Faber, Ben;
Emerson, Sarah

Publication type:

Case Study

BLAU SYNDROME TREATED WITH SEQUENTIAL BIOLOGICS.

Published in:

2018

By:

Yong, Cee Yi;
Mukhtyar, Chetan;
Armon, Kate

Publication type:

Case Study

Foreign Body Synovitis in the Pacific.

Published in:

Hawaii Journal of Medicine & Public Health, 2014, v. 73, p. 37

By:

Anderson, Caleb;
Stitt, Rodger;
Roberts, Jefferson

Publication type:

Article

Listeriosis During Pregnancy and in Newborns: 18 Years of Data From a Large Tertiary Hospital in Singapore.

Published in:

Journal of the Pediatric Infectious Diseases Society, 2020, v. 9, n. 4, p. 498, doi. 10.1093/jpids/piz059

By:

Vidal, Eleah N;
Rajadurai, Victor Samuel;
Anand, Amudha Jayanthi;
Chandran, Suresh

Publication type:

Article

A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis.

Published in:

2018

By:

Ebrahimiadib, Nazanin;
Samra, Khawla Abu;
Domina, Aaron M.;
Stiles, Ethan R.;
Ewer, Roger;
Bocian, Charlie P.;
Foster, C. Stephen

Publication type:

journal article

Immunohistochemical Evidence of Specific Iris Involvement in Blau Syndrome.

Published in:

Ocular Immunology & Inflammation, 2012, v. 20, n. 6, p. 471, doi. 10.3109/09273948.2012.726391

By:

Paparizos, Stella C.;
Goldstein, Debra A.;
Bouhenni, Rachida A.;
Steiner, Scott;
Dunmire, Jeffrey J.;
Edward, Deepak P.

Publication type:

Article

A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome.

Published in:

Clinical & Experimental Dermatology, 2018, v. 43, n. 1, p. 57, doi. 10.1111/ced.13217

By:

Oda, F.;
Murakami, M.;
Hanakawa, Y.;
Tohyama, M.;
Nakano, N.;
Nishikomori, R.;
Kambe, N.;
Sayama, K.

Publication type:

Article

A rare systemic granulomatous disorder.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 1, p. 111, doi. 10.1111/ced.12006

By:

Patel, A. N.;
Khan, M.;
Murphy, R.

Publication type:

Article

Blau syndrome and latent tubercular infection: an unresolved partnership.

Published in:

International Journal of Rheumatic Diseases, 2014, v. 17, n. 5, p. 586, doi. 10.1111/1756-185X.12330

By:

Caso, Francesco;
Wouters, Carine H.;
Rose, Carlos D.;
Costa, Luisa;
Tognon, Sofia;
Sfriso, Paolo;
Cantarini, Luca;
Rigante, Donato;
Punzi, Leonardo

Publication type:

Article

A long-term follow-up of Japanese mother and her daughter with Blau syndrome: Effective treatment of anti-TNF inhibitors and useful diagnostic tool of joint ultrasound examination.

Published in:

Modern Rheumatology, 2017, v. 27, n. 1, p. 169, doi. 10.3109/14397595.2014.964388

By:

Yoshikazu Otsubo;
Ikuo Okafuji;
Toshimasa Shimizu;
Fumiaki Nonaka;
Kei Ikeda;
Katsumi Eguchi

Publication type:

Article

A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?

Published in:

Modern Rheumatology, 2013, v. 23, n. 4, p. 837, doi. 10.3109/s10165-012-0720-z

By:

Inoue, Yuzaburo;
Kawaguchi, Yasushi;
Shimojo, Naoki;
Yamaguchi, Kenichi;
Morita, Yoshinori;
Nakano, Taiji;
Arima, Takayasu;
Tomiita, Minako;
Kohno, Yoichi

Publication type:

Article

Multimodal imaging in pediatric uveitis.

Published in:

Therapeutic Advances in Ophthalmology, 2021, p. 1, doi. 10.1177/25158414211059244

By:

Diala, Fitz Gerald I.;
McCarthy, Kayne;
Chen, Judy L.;
Tsui, Edmund

Publication type:

Article

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.

Published in:

Arthritis & Rheumatology, 2016, v. 68, n. 4, p. 1039, doi. 10.1002/art.39519

By:

Mensa‐Vilaro, Anna;
Tarng Cham, Weng;
Ping Tang, Swee;
Chin Lim, Sern;
González‐Roca, Eva;
Ruiz‐Ortiz, Estibaliz;
Ariffin, Roziana;
Yagüe, Jordi;
Aróstegui, Juan I.

Publication type:

Article

A60: Optic Nerve and Retinal Features in Uveitis Associated With Juvenile Systemic Granulomatous Disease (Blau Syndrome).

Published in:

Arthritis & Rheumatology, 2014, v. 66, p. S89, doi. 10.1002/art.38476

By:

Carreno, Ester;
Guly, Catherine M;
Chilov, Michael;
Hinchcliffe, Annie;
Aróstegui, Juan Ignacio;
Lee, Richard W;
Dick, Adrew D;
Ramanan, Athimalaipet V

Publication type:

Article

An Interesting Case of Blau Syndrome - A Rare Autoinflammatory Disease.

Published in:

Indian Journal of Medical Specialities, 2024, v. 15, n. 2, p. 137, doi. 10.4103/injms.injms_145_23

By:

Nagpal, Swapan;
Singh, Veer

Publication type:

Article

Acute Pain and a Motivational Pathway in Adult Rats: Influence of Early Life Pain Experience.

Published in:

PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0034316

By:

Low, Lucie A.;
Fitzgerald, Maria

Publication type:

Article

Frontal cranial modeling using endocranial resorbable plate fixation in 27 consecutive plagiocephaly and trigonocephaly patients.

Published in:

Child's Nervous System, 2015, v. 31, n. 7, p. 1121, doi. 10.1007/s00381-015-2657-y

By:

Salokorpi, Niina;
Sinikumpu, Juha-Jaakko;
Iber, Tarja;
Zibo, Heleia;
Areda, Tarmo;
Ylikontiola, Leena;
Sándor, George;
Serlo, Willy

Publication type:

Article

A Boy With Blau Syndrome Misdiagnosed as Refractory Kawasaki Disease.

Published in:

Pediatric Infection & Vaccine, 2022, v. 29, n. 3, p. 166, doi. 10.14776/piv.2022.29.e22

By:

Kyungwon Cho;
Yoonsun Yoon;
Joon-sik Choi;
Sang Jin Kim;
Hirokazu Kanegane;
Yae-Jean Kim

Publication type:

Article

Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity.

Published in:

2017

By:

Rose, Carlos D.

Publication type:

Editorial

A Case of Blau Syndrome with NOD2 E383K Mutation.

Published in:

Pediatric Dermatology, 2016, v. 33, n. 6, p. e385, doi. 10.1111/pde.12908

By:

Harada, Jun;
Nakajima, Takeshi;
Kanazawa, Nobuo

Publication type:

Article

Blau syndrome: An under-reported condition in India?

Published in:

2022

By:

Agarwal, A;
Karande, S

Publication type:

Editorial

Primary synovial epithelioid sarcoma of the knee: distinctly unusual location leading to its confusion with pigmented villonodular synovitis.

Published in:

APMIS, 2015, v. 123, n. 4, p. 350, doi. 10.1111/apm.12352

By:

Chow, Louis Tsun Cheung

Publication type:

Article

Nietypowe zmiany rumieniowe w przebiegu leczenia biologicznego uogólnionej łuszczycy krostkowej.

Published in:

Dermatology Review / Przeglad Dermatologiczny, 2012, v. 99, n. 3, p. 216

By:

Słowińska, Monika;
Czuwara, Joanna;
Rakowska, Adriana;
Sicińska, Justyna;
Warszawik, Olga;
Kardynał, Agnieszka;
Kurzeja, Marta;
Kłujszo, Elżbieta

Publication type:

Article

A case of generalized lichen planus pigmentosus: an atypical clinical variety.

Published in:

2022

By:

Rong Li;
Jia-an Zhang;
Yi-qun Jiang;
Kun Chen

Publication type:

Case Study

A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function.

Published in:

Innate Immunity, 2017, v. 23, n. 7, p. 578, doi. 10.1177/1753425917727063

By:

Ong, Lawrence T. C.;
Nachbur, Ueli;
Rowczenio, Dorota;
Ziegler, John B.;
Fischer, Eddy;
Ming Wei Lin

Publication type:

Article

Unilateral Sixth Cranial Nerve Palsy Following C/S as a Complication of Spinal Anaesthesia.

Published in:

Turkish Journal of Anesthesia & Reanimation, 2014, v. 42, n. 3, p. 151, doi. 10.5152/TJAR.2014.52724

By:

Adaklı, Barış;
Özgencil, Enver;
Özünlü, Gülen Nevin;
Aybar, Refiye Selin;
Uysalel, Asuman

Publication type:

Article

Aberrant interleukin-1 signalling does not increase susceptibility of mice to NOD2-dependent uveitis.

Published in:

Clinical & Experimental Ophthalmology, 2015, v. 43, n. 4, p. 349, doi. 10.1111/ceo.12438

By:

Lee, Ellen J;
Allensworth, Jordan J;
Clowers, Jenna S;
Rosenzweig, Holly L

Publication type:

Article

Advancing virtual patient simulations through design research and interPLAY: part I: design and development.

Published in:

Educational Technology Research & Development, 2016, v. 64, n. 4, p. 763, doi. 10.1007/s11423-016-9429-6

By:

Hirumi, Atsusi;
Kleinsmith, Andrea;
Johnsen, Kyle;
Kubovec, Stacey;
Eakins, Michael;
Bogert, Kenneth;
Rivera-Gutierrez, Diego;
Reyes, Ramsamooj;
Lok, Benjamin;
Cendan, Juan

Publication type:

Article

Pattern of skin diseases in a tertiary care private hospital, Karachi.

Published in:

Journal of Pakistan Association of Dermatologists, 2014, v. 24, n. 4, p. 292

By:

Maryum, Humaira;
Alam, M. Zafar;
Ahmed, Ijaz

Publication type:

Article

Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesis.

Published in:

Pediatric Rheumatology, 2012, v. 10, n. 1, p. 21, doi. 10.1186/1546-0096-10-21

By:

Belot, Alexandre;
Cimaz, Rolando

Publication type:

Article

Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature.

Published in:

2015

By:

La Torre, Francesco;
Lapadula, Giovanni;
Cantarini, Luca;
Lucherini, Orso;
Iannone, Florenzo

Publication type:

Case Study

Sustained Surface ICAM-1 Expression and Transient PDGF-B Production by Phorbol Myristate Acetate-Activated THP-1 Cells Harboring Blau Syndrome-Associated NOD2 Mutations.

Published in:

Children, 2021, v. 8, n. 5, p. 1, doi. 10.3390/children8050335

By:

Mizuho Nishiyama;
Hong-jin Li;
Ikuo Okafuji;
Akihiko Fujisawa;
Mizue Ehara;
Naotomo Kambe;
Fukumi Furukawa;
Nobuo Kanazawa

Publication type:

Article

NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination.

Published in:

Children, 2021, v. 8, n. 2, p. 1, doi. 10.3390/children8020117

By:

Akiko Arakawa;
Naotomo Kambe;
Ryuta Nishikomori;
Akiyo Tanabe;
Masamichi Ueda;
Chikako Nishigori;
Yoshiki Miyachi;
Nobuo Kanazawa

Publication type:

Article

Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature.

Published in:

Archives of Rheumatology, 2020, v. 35, n. 1, p. 117, doi. 10.5606/ArchRheumatol.2020.7060

By:

PAÇ KISAARSLAN, Ayşenur;
SÖZERİ, Betül;
ŞAHİN, Nihal;
ÖZDEMİR ÇİÇEK, Sümeyra;
GÜNDÜZ, Zübeyde;
DEMİRKAYA, Erkan;
BERDELİ, Afig;
SADET ÖZCAN, Serdal;
PORAZOĞLU, Hakan;
DÜŞÜNSEL, Ruhan

Publication type:

Article

Effect of clinical and laboratory parameters on quality of life in celiac patients using celiac disease-specific quality of life scores.

Published in:

Scandinavian Journal of Gastroenterology, 2017, v. 52, n. 11, p. 1235, doi. 10.1080/00365521.2017.1350283

By:

Lee, Jungmin;
Clarke, Kofi

Publication type:

Article

Familial Blau syndrome:First molecularly confirmed report from India.

Published in:

2019

By:

Janarthanan, Mahesh;
Poddar, Chanchal;
Sudharshan, S;
Seabra, Luis;
Crow, Yanick J

Publication type:

Case Study

Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab.

Published in:

2018

By:

Naik, Anmol U.;
Annamalai, Radha;
Biswas, Jyotirmay

Publication type:

Case Study

Two Chinese pedigrees of Blau syndrome with thirteen affected members.

Published in:

Clinical Rheumatology, 2018, v. 37, n. 1, p. 265, doi. 10.1007/s10067-017-3758-7

By:

Wu, Di;
Shen, Min

Publication type:

Article

Serum Angiogenesis Markers and Their Correlation with Ultrasound-Detected Synovitis in Juvenile Idiopathic Arthritis.

Published in:

Journal of Immunology Research, 2015, v. 2015, p. 1, doi. 10.1155/2015/741457

By:

Świdrowska, Joanna;
Smolewski, Piotr;
Stańczyk, Jerzy;
Smolewska, Elżbieta

Publication type:

Article

Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide‐binding oligomerization domain‐containing protein 2 gene with good response to infliximab.

Published in:

Pediatric Dermatology, 2018, v. 35, n. 3, p. e180, doi. 10.1111/pde.13475

By:

Toral‐López, Jaime;
González‐Huerta, Luz M.;
Martín‐del Campo, Mónica;
Messina‐Baas, Olga;
Cuevas‐Covarrubias, Sergio A.

Publication type:

Article

A New Mutation in Blau Syndrome.

Published in:

Case Reports in Rheumatology, 2015, v. 2015, p. 1, doi. 10.1155/2015/463959

By:

Zeybek, Cengiz;
Basbozkurt, Gokalp;
Gul, Davut;
Demirkaya, Erkan;
Gok, Faysal

Publication type:

Article

A Case of Blau Syndrome.

Published in:

2014

By:

Chauhan, Krati;
Michet, Clement

Publication type:

Case Study

Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant.

Published in:

2017

By:

ARVESEN, Kristian B.;
HERLIN, Troels;
LARSEN, Dorthe A.;
KOPPELHUS, Uffe;
RAMSING, Mette;
SKYTTE, Anne-Bine;
SOMMERLUND, Mette SOMMERLUND

Publication type:

Case Study

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report.

Published in:

Pediatric Rheumatology, 2017, v. 15, p. 1, doi. 10.1186/s12969-017-0188-7

By:

Dziedzic, Magdalena;
Marjańska, Agata;
Bąbol-Pokora, Katarzyna;
Urbańczyk, Anna;
Grześk, Elżbieta;
Młynarski, Wojciech;
Kołtan, Sylwia

Publication type:

Article

Molecular diagnostic yield for Blau syndrome in previously diagnosed juvenile idiopathic arthritis with uveitis or cutaneous lesions.

Published in:

Rheumatology, 2024, v. 63, p. SI260, doi. 10.1093/rheumatology/kead596

By:

Zhong, Zhenyu;
Dai, Lingyu;
Ding, Jiadong;
Gao, Yu;
Su, Guannan;
Zhu, Yunyun;
Deng, Yang;
Li, Fuzhen;
Gao, Yuan;
Yang, Peizeng

Publication type:

Article

Early onset sarcoidosis (Blau syndrome): erosive and often misdiagnosed.

Published in:

2020

By:

Ellis, Jessica C;
Faber, Benjamin G;
Uri, Ishaq F;
Emerson, Sarah J

Publication type:

Correction Notice

Early onset sarcoidosis (Blau syndrome): erosive and often misdiagnosed.

Published in:

Rheumatology, 2020, v. 59, n. 5, p. 1179, doi. 10.1093/rheumatology/kez484

By:

Ellis, Jessica C;
Faber, Benjamin G;
Uri, Ishaq F;
Emerson, Sarah J.

Publication type:

Article

An unusual cause of deforming erosive arthritis in an adult.

Published in:

2020

By:

Jha, Saket;
Mittal, Sakshi;
Kumar, Rajiv Ranjan;
Dhooria, Aadhaar;
Rawat, Amit;
Dhir, Varun

Publication type:

Case Study

P05 Adalimumab treatment of refractory Blau syndrome: a case report and literature review.

Published in:

2018

By:

Close, Rosie;
Millington, George;
Bale, Peter;
Armon, Kate

Publication type:

Abstract