Works matching DE "ROTHMUND-Thomson syndrome"

Results: 60

How to identify pediatric cerebral and pulmonary arteriovenous malformation earlier: non-hereditary hemorrhagic telangiectasia case.

Published in:

Child's Nervous System, 2015, v. 31, n. 2, p. 337, doi. 10.1007/s00381-014-2507-3

By:

Zhang, Yuhai;
Chen, Weijie;
Qin, Meihua;
Zhao, Chao;
Xu, Zhen;
Dong, Jun;
Sun, Guoqing;
Yang, Yunxue

Publication type:

Article

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 359, doi. 10.1002/mgg3.209

By:

Suter, Aude‐Annick;
Itin, Peter;
Heinimann, Karl;
Ahmed, Munaza;
Ashraf, Tazeen;
Fryssira, Helen;
Kini, Usha;
Lapunzina, Pablo;
Miny, Peter;
Sommerlund, Mette;
Suri, Mohnish;
Vaeth, Signe;
Vasudevan, Pradeep;
Gallati, Sabina

Publication type:

Article

Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome.

Published in:

2018

By:

Nadeau, Kara;
Brule, Michele

Publication type:

Case Study

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

Published in:

2017

By:

Rij, M.;
Grijsen, M.;
Appelman-Dijkstra, N.;
Hansson, K.;
Ruivenkamp, C.;
Mulder, K.;
Doorn, R.;
Oranje, A.;
Kant, S.;
van Rij, M C;
Grijsen, M L;
Appelman-Dijkstra, N M;
Hansson, K B M;
Ruivenkamp, C A L;
van Doorn, R;
Oranje, A P;
Kant, S G

Publication type:

journal article

Gender Differences in Soft Tissue and Bone Sarcoma: A Narrative Review.

Published in:

Cancers, 2024, v. 16, n. 1, p. 201, doi. 10.3390/cancers16010201

By:

Cosci, Ilaria;
Del Fiore, Paolo;
Mocellin, Simone;
Ferlin, Alberto

Publication type:

Article

Giant congenital facial melanocytic nevus.

Published in:

Oman Journal of Ophthalmology, 2018, v. 11, n. 3, p. 265, doi. 10.4103/ojo.OJO_216_2017

By:

Meel, Rachna;
Wadhwani, Meenakshi;
Pushker, Neelam

Publication type:

Article

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Published in:

2015

By:

Mercier, Sandra;
Küry, Sébastien;
Salort-Campana, Emmanuelle;
Magot, Armelle;
Agbim, Uchenna;
Besnard, Thomas;
Bodak, Nathalie;
Bou-Hanna, Chantal;
Bréhéret, Flora;
Brunelle, Perrine;
Caillon, Florence;
Chabrol, Brigitte;
Cormier-Daire, Valérie;
David, Albert;
Eymard, Bruno;
Faivre, Laurence;
Figarella-Branger, Dominique;
Fleurence, Emmanuelle;
Ganapathi, Mythily;
Gherardi, Romain

Publication type:

journal article

A typical red neck.

Published in:

2019

By:

Fernández-Nieto, Diego;
de Perosanz-Lobo, Darío;
Jiménez-Cauhé, Juan;
Ortega-Quijano, Daniel;
Bea-Ardebol, Sonia

Publication type:

Case Study

Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject.

Published in:

Journal of Law, Medicine & Ethics, 2015, v. 43, n. 3, p. 529, doi. 10.1111/jlme.12295

By:

Scollon, Sarah;
Bergstrom, Katie;
McCullough, Laurence B.;
McGuire, Amy L.;
Gutierrez, Stephanie;
Kerstein, Robin;
Parsons, D. Williams;
Plon, Sharon E.

Publication type:

Article

Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.

Published in:

British Journal of Dermatology, 2017, v. 176, n. 2, p. 534, doi. 10.1111/bjd.14845

By:

Takeichi, T.;
Nanda, A.;
Yang, H. ‐ S.;
Hsu, C. ‐ K.;
Lee, J.Y. ‐ Y.;
Al ‐ Ajmi, H.;
Akiyama, M.;
Simpson, M.A.;
McGrath, J.A.

Publication type:

Article

A case of hyperpigmentation and acanthosis nigricans by testosterone injections.

Published in:

Human & Experimental Toxicology, 2014, v. 33, n. 12, p. 1297, doi. 10.1177/0960327113514099

By:

Karadag, AS;
Kavala, M;
Demir, FT;
Turkoğlu, Z;
Kartal, İ;
Zemheri, E

Publication type:

Article

Rare skeletal abnormalities in Rothmund-Thomson syndrome: a case report.

Published in:

International Journal of Dermatology, 2016, v. 55, n. 4, p. 460, doi. 10.1111/ijd.12723

By:

Pasagadugula, Krishnarao V.;
Chennamsetty, Teja;
Avvaru, Krishnaveni;
Chennamsetty, Kavya

Publication type:

Article

RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex.

Published in:

Carcinogenesis, 2014, v. 35, n. 11, p. 2415, doi. 10.1093/carcin/bgu137

By:

Shamanna, Raghavendra A.;
Singh, Dharmendra Kumar;
Lu, Huiming;
Mirey, Gladys;
Keijzers, Guido;
Salles, Bernard;
Croteau, Deborah L.;
Bohr, Vilhelm A.

Publication type:

Article

Rothmund-Thomson syndrome, a disorder far from solved.

Published in:

Frontiers in Aging Neuroscience, 2023, p. 1, doi. 10.3389/fragi.2023.1296409

By:

Martins, Davi Jardim;
Di Lazzaro Filho, Ricardo;
Romeo Bertola, Debora;
Carlos Hoch, Nícolas

Publication type:

Article

Primary Diffuse Large B-cell Lymphoma Arising in the Tongue Accompanied by Ataxia-telangiectasia: A Case Report.

Published in:

2015

By:

HIROFUMI TOMIOKA;
AYANO KANEOYA;
YUMI MOCHIZUKI;
HIROYUKI HARADA

Publication type:

Case Study

Hyperpigmentation Therapy: A Review.

Published in:

Journal of Clinical & Aesthetic Dermatology, 2014, v. 7, n. 8, p. 13

By:

Desai, Seemal R.

Publication type:

Article

Two histopathological patterns of postinflammatory hyperpigmentation: epidermal and dermal.

Published in:

Journal of Cutaneous Pathology, 2017, v. 44, n. 2, p. 118, doi. 10.1111/cup.12849

By:

Park, Ji‐Youn;
Park, Ji‐Hye;
Kim, Sang Jin;
Kwon, Ji Eun;
Kang, Hee Young;
Lee, Eun‐So;
Kim, You Chan

Publication type:

Article

TRANSIENT CUTANEOUS HYPERPIGMENTATION OF EXTREMITIES FOLLOWING DENGUE FEVER.

Published in:

2014

By:

Aroor, Shrikiran;
Kumar, Sandeep;
Mundkur, Suneel

Publication type:

Case Study

At-Risk Populations for Osteosarcoma: The Syndromes and Beyond.

Published in:

Sarcoma, 2012, p. 1, doi. 10.1155/2012/152382

By:

Calvert, George T.;
Lor Randall, R.;
Jones, Kevin B.;
Cannon-Albright, Lisa;
Lessnick, Stephen;
Schiffman, Joshua D.

Publication type:

Article

Adermatoglyphia in the era of biometrics.

Published in:

Indian Journal of Dermatology, 2022, v. 67, n. 4, p. 465, doi. 10.4103/ijd.ijd_54_21

By:

De, Abhishek;
Dhar, Subhra;
Sarda, Aarti;
Dhar, Sandipan

Publication type:

Article

Novel frameshift mutations in XPC gene underlie xeroderma pigmentosum in Pakistani families.

Published in:

Indian Journal of Dermatology, 2021, v. 66, n. 2, p. 220, doi. 10.4103/ijd.IJD_63_20

By:

Ijaz, Ambreen;
Shah, Khadim;
Aziz, Abdul;
Rehman, Fazal;
Ali, Yasir;
Tareen, Abdul;
Khan, Kafaitullah;
Ayub, Muhammad;
Wali, Abdul

Publication type:

Article

IJD WINDOW.

Published in:: 2016
Publication type:: Image

Poikiloderma Vasculare Atrophicans: A Distinct Clinical Entity?

Published in:

Indian Journal of Dermatology, 2015, v. 60, n. 2, p. 1, doi. 10.4103/0019-5154.152566

By:

Mahajan, Vikram K.;
Chauhan, Pushpinder S.;
Mehta, Karaninder S.;
Sharma, Anju Lath

Publication type:

Article

Minocycline-induced hyperpigmentation.

Published in:: QJM: An International Journal of Medicine, 2017, v. 110, n. 5, p. 323, doi. 10.1093/qjmed/hcx051
Publication type:: Article

Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature.

Published in:

Arquivos Brasileiros de Oftalmologia, 2016, v. 79, n. 3, p. 186, doi. 10.5935/0004-2749.20160053

By:

FILIPA MIRANDA, ANA;
RIVERA-MONGE, MARIA DANIELA;
COSTA FARIAS, CHARLES

Publication type:

Article

Chronic cutaneous graft‐versus‐host disease in children: A report of 14 patients from a tertiary care pediatric dermatology clinic.

Published in:

Pediatric Dermatology, 2018, v. 35, n. 3, p. 343, doi. 10.1111/pde.13432

By:

Nanda, Arti;
Husain, Maitham A. A.;
Al‐Herz, Waleed;
Almekaimi, Adla;
Al‐Sabah, Humoud;
Al‐Otaibi, Mohammad

Publication type:

Article

Treatment of the Poikilodermatous Component of the Rothmund-Thomson Syndrome with the Flashlamp-Pumped Pulsed Dye Laser: A Case Report.

Published in:

Pediatric Dermatology, 1991, v. 8, n. 2, p. 162, doi. 10.1111/j.1525-1470.1991.tb00310.x

By:

Potozkin, Jerome R.;
Geronemus, Roy G.

Publication type:

Article

Oral Findings of Rothmund-Thomson Syndrome.

Published in:

Case Reports in Dentistry, 2013, p. 1, doi. 10.1155/2013/935716

By:

Canger, Emin Murat;
Çelenk, Peruze;
Devrim, Enci;
AvGar, Aysun

Publication type:

Article

A Rare Case Report of Rothmund Thomson Syndrome.

Published in:

2017

By:

Andharia, Payal;
Jadeja, Neeldip;
Raval, Nilesh;
Asrani, Mukesh

Publication type:

Case Study

WHAT IS YOUR DIAGNOSIS?

Published in:

Pediatric Oncall Journal, 2016, v. 13, n. 4, p. 112, doi. 10.7199/ped.oncall.2016.46

By:

Sah, Olcay;
Namdar, Medya;
Sögütlü, Yakup;
Biçer, Suat

Publication type:

Article

Meeting abstracts from the 11th European Cytogenetics Conference: late breaking abstracts.

Published in:: 2017
Publication type:: Abstract

Genetic Disorder Reference Sheet: RECQL4.

Published in:

ONS Voice, 2024, p. 1

By:

Mahon, Suzanne M.

Publication type:

Article

Pitted Depressions on the Hands and Elbows.

Published in:

2021

By:

Batarseh, Paola;
Quigley, Elizabeth

Publication type:

Case Study

Melasma-like hyperpigmentation induced by intense pulsed light treatment in Chinese individuals.

Published in:

Journal of Cosmetic & Laser Therapy, 2014, v. 16, n. 6, p. 296, doi. 10.3109/14764172.2014.953417

By:

Fang, Lin;
Gold, Michael H.;
Huang, Luping

Publication type:

Article

Management of a granulomatous lesion in a patient with Kindler's Syndrome.

Published in:

Journal of Indian Society of Periodontology, 2018, v. 22, n. 1, p. 60, doi. 10.4103/jisp.jisp_372_17

By:

Bhatsange, Anuradha;
Khadse, Yugandhara;
Deshmukh, Sabina;
Karwa, Swapnil

Publication type:

Article

Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome.

Published in:

2015

By:

Beckmann, Nicholas

Publication type:

Case Study

Rothmund syndrome.

Published in:

2015

By:

dos Santos Martins, Thiago Gonçalves;
de Azevedo Costa, Ana Luiza Fontes;
dos Santos Martins, Thomaz Gonçalves

Publication type:

Case Study

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 4, p. 1103, doi. 10.3390/ijms19041103

By:

Colombo, Elisa A.;
Locatelli, Andrea;
Sánchez, Laura Cubells;
Romeo, Sara;
Elcioglu, Nursel H.;
Maystadt, Isabelle;
Martínez, Altea Esteve;
Sironi, Alessandra;
Fontana, Laura;
Finelli, Palma;
Gervasini, Cristina;
Pecile, Vanna;
Larizza, Lidia

Publication type:

Article

Rothmund–Thomson syndrome: anaesthesia considerations.

Published in:

2016

By:

Kasat, Neha;
Shah, Harick;
Chhabria, Rachana;
Dave, Nandini

Publication type:

Case Study

34 years' duration of poikilodermatous lesion.

Published in:

2020

By:

Cong Liu;
Cheng Tan

Publication type:

Case Study

Evaluation of Immune Deficiency Disorders in the Clinic—A Case for Routine Testing of Monocyte Subsets with CD14 and CD16 Expression.

Published in:

Pediatric Allergy, Immunology & Pulmonology, 2024, v. 37, n. 4, p. 116, doi. 10.1089/ped.2024.0129

By:

Ravindranath, Yaddanapudi;
Parajuli, Prahlad

Publication type:

Article

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1298, doi. 10.1038/ejhg.2014.18

By:

Colombo, Elisa Adele;
Fontana, Laura;
Roversi, Gaia;
Negri, Gloria;
Castiglia, Daniele;
Paradisi, Mauro;
Zambruno, Giovanna;
Larizza, Lidia

Publication type:

Article

A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 11, p. e159, doi. 10.1111/jdv.13466

By:

Zhang, J.;
Yan, M.;
Cheng, R.;
Ni, C.;
Liang, J.;
Li, M.;
Yao, Z.

Publication type:

Article

RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.

Published in:

Journal of Bone & Mineral Research, 2015, v. 30, n. 6, p. 1077, doi. 10.1002/jbmr.2436

By:

Lu, Linchao;
Harutyunyan, Karine;
Jin, Weidong;
Wu, Jianhong;
Yang, Tao;
Chen, Yuqing;
Joeng, Kyu Sang;
Bae, Yangjin;
Tao, Jianning;
Dawson, Brian C;
Jiang, Ming-Ming;
Lee, Brendan;
Wang, Lisa L

Publication type:

Article

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 244, doi. 10.1111/cge.12361

By:

Piard, J.;
Aral, B.;
Vabres, P.;
Holder‐Espinasse, M.;
Mégarbané, A.;
Gauthier, S.;
Capra, V.;
Pierquin, G.;
Callier, P.;
Baumann, C.;
Pasquier, L.;
Baujat, G.;
Martorell, L.;
Rodriguez, A.;
Brady, A. F.;
Boralevi, F.;
González‐Enseñat, M. A.;
Rio, M.;
Bodemer, C.;
Philip, N.

Publication type:

Article

Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.

Published in:

Journal of Clinical Immunology, 2018, v. 38, n. 4, p. 494, doi. 10.1007/s10875-018-0508-9

By:

Colombo, Elisa A.;
Elcioglu, Nursel H.;
Graziano, Claudio;
Farinelli, Pamela;
Di Fede, Elisabetta;
Neri, Iria;
Facchini, Elena;
Greco, Mariangela;
Gervasini, Cristina;
Larizza, Lidia

Publication type:

Article

Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

Published in:

Journal of Clinical Immunology, 2017, v. 37, n. 4, p. 357, doi. 10.1007/s10875-017-0385-7

By:

Aglaguel, Ayoub;
Abdelghaffar, Houria;
Ailal, Fatima;
Habti, Norddine;
Hesse, Sebastian;
Kohistani, Naschla;
Klein, Christoph;
Bousfiha, Ahmed

Publication type:

Article

The DNA Helicase Recql4 Is Required for Normal Osteoblast Expansion and Osteosarcoma Formation.

Published in:

PLoS Genetics, 2015, v. 11, n. 4, p. 1, doi. 10.1371/journal.pgen.1005160

By:

Ng, Alvin J. M.;
Walia, Mannu K.;
Smeets, Monique F.;
Mutsaers, Anthony J.;
Sims, Natalie A.;
Purton, Louise E.;
Walsh, Nicole C.;
Martin, T. John;
Walkley, Carl R.

Publication type:

Article

An in vivo model for postinflammatory hyperpigmentation: an analysis of histological, spectroscopic, colorimetric and clinical traits.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 4, p. 862, doi. 10.1111/bjd.14184

By:

Isedeh, P.;
Kohli, I.;
Al ‐ Jamal, M.;
Agbai, O.N.;
Chaffins, M.;
Devpura, S.;
Mahan, M.;
Vanderover, G.;
Lim, H.W.;
Matsui, M.S.;
Hamzavi, I.H.

Publication type:

Article

In vivo model for postinflammatory hyperpigmentation: a step forward.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 4, p. 721, doi. 10.1111/bjd.14333

By:

Youn, S.W.

Publication type:

Article