Works matching Rothmund-Thomson syndrome

Results: 232

Rothmund–Thomson syndrome: anaesthesia considerations.

Published in:

2016

By:

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

Publication type:

Case Study

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

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

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

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

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

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

Published in:

2015

By:

Beckmann, Nicholas

Publication type:

Case Study

A Rare Case Report of Rothmund Thomson Syndrome.

Published in:

2017

By:

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

Publication type:

Case Study

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

Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 2, p. 227, doi. 10.1111/ced.12476

By:

Alshami, M.

Publication type:

Article

Rothmund – Thomson syndrome with bronchiectasis: An uncommon phenotype?

Published in:

2015

By:

Mahajan, Vikram K.;
Sharma, Vikas;
Chauhan, Pushpinder S.;
Mehta, Karaninder S.;
Raina, Rashmi

Publication type:

Letter to the Editor

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

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

The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.

Published in:

Journal of Clinical Investigation, 2014, v. 124, n. 8, p. 3551, doi. 10.1172/JCI75334

By:

Smeets, Monique F.;
DeLuca, Elisabetta;
Wall, Meaghan;
Quach, Julie M.;
Chalk, Alistair M.;
Deans, Andrew J.;
Heierhorst, Jörg;
Purton, Louise E.;
Izon, David J.;
Walkley, Carl R.

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

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

Rothmund-Thomson syndrome.

Published in:

2014

By:

Manavi, Sujaya;
Mahajan, Vikram K.

Publication type:

Letter to the Editor

Síndrome de Rothmund-Thomson o poiquilodermia congénita.

Published in:

Dermatología Revista Mexicana, 2012, v. 56, n. 5, p. 354

By:

Romero Flórez, Alexandra

Publication type:

Article

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

Published in:

2008

By:

Sznajer, Yves;
Siitonen, H. Annika;
Roversi, Gaia;
Dangoisse, Chantal;
Scaillon, Michèle;
Ziereisen, France;
Tenoutasse, Sylvie;
Kestilä, Marjo;
Larizza, Lidia;
Scaillon, Michèle;
Kestilä, Marjo

Publication type:

journal article

Osteosarcoma in Patients with Rothmund-Thomson Syndrome.

Published in:

Pediatric Hematology & Oncology, 2015, v. 32, n. 1, p. 32, doi. 10.3109/08880018.2014.987939

By:

Zils, Katja;
Klingebiel, Thomas;
Behnisch, Wolfgang;
Mueller, Hermann L.;
Schlegel, Paul-Gerhardt;
Fruehwald, Michael;
Suttorp, Meinolf;
Simon, Thorsten;
Werner, Mathias;
Bielack, Stefan

Publication type:

Article

Rothmund-Thomson Syndrome with Malignant Fibrous Histiocytoma: Report of a Case and Review of Literature.

Published in:

2012

By:

Jalali, MirHadi Aziz;
Tabaie, Mehdi

Publication type:

Case Study

Rothmund-Thomson syndrome: Unpacking a rare diagnosis.

Published in:

Romanian Medical Journal, 2024, v. 71, n. 1, p. 55, doi. 10.37897/RMJ.2024.1.14

By:

Gökten, Dilara Bulut;
Mercan, Rıdvan

Publication type:

Article

Rothmund-Thomson Syndrome: A 13-Year Follow-Up.

Published in:

Case Reports in Dermatology, 2014, v. 6, n. 2, p. 176, doi. 10.1159/000365625

By:

Guerrero-González, Guillermo Antonio;
Martínez-Cabriales, Sylvia Aideé;
Hernández-Juárez, Aideé Alejandra;
Lugo-Trampe, José de Jesús;
Espinoza-González, Nelly Alejandra;
Gómez-Flores, Minerva;
Ocampo-Candiani, Jorge

Publication type:

Article

Limb Preservation with Free Latissimus Dorsi Myocutaneous Flap in a Patient with Rothmund-Thomson Syndrome.

Published in:

Turkish Journal of Plastic Surgery, 2025, v. 33, n. 2, p. 113, doi. 10.4103/tjps.tjps_67_24

By:

Ulukaya, Hüseyin Emre;
Taşan, Alper;
Ekincikli, Burak Tunahan;
Çamlı, Mehmet Fatih

Publication type:

Article

Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome.

Published in:

Contemporary Clinical Dentistry, 2016, v. 7, n. 2, p. 240, doi. 10.4103/0976-237X.183052

By:

HOLANDA DE OLIVEIRA, KATHARINA MORANT;
BEZERRA SILVA, RAQUEL ASSED;
CARVALHO, FABRICIO KITAZONO;
BEZERRA SILVA, LEA ASSED;
NELSON-FILHO, PAULO;
QUEIROZ, ALEXANDRA MUSSOLINO

Publication type:

Article

Successful umbilical cord blood stem cell transplantation in a patient with Rothmund–Thomson syndrome and combined immunodeficiency.

Published in:

Clinical Genetics, 2006, v. 69, n. 4, p. 337, doi. 10.1111/j.1399-0004.2006.00592.x

By:

Broom, M. A.;
Wang, L. L.;
Otta, S. K.;
Knutsen, A. P.;
Siegfried, E.;
Batanian, J. R.;
Kelly, M. E.;
Shah, Maulik

Publication type:

Article

Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.

Published in:

Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15120

By:

Hideo Kaneko;
Minoru Takemoto;
Hiroaki Murakami;
Kenji Ihara;
Rika Kosaki;
Sei-ichiro Motegi;
Akira Taniguchi;
Muneaki Matsuo;
Naoya Yamazaki;
Chikako Nishigori;
Junko Takita;
Masaya Koshizaka;
Yoshiro Maezawa;
Koutaro Yokote

Publication type:

Article

Overlap between Rothmund-Thomson and Baller-Gerold syndrome.

Published in:

European Journal of Pediatric Dermatology, 2022, v. 32, n. 2, p. 98

By:

S., Rabba;
F., Hali;
S., Chiheb

Publication type:

Article

A Chinese patient with Rothmund–Thomson syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2347

By:

Zeng, Juan;
Li, Jiayi;
Liu, Yuwei;
Liang, Rui;
Wang, Lin;
Zhou, Qing;
Sun, Jinghua;
Liu, Zhongzhen;
Wang, Wen‐Jing;
Zhu, Sujun

Publication type:

Article

Rothmundův-Thomsonův syndrom sdružený s anaplastickým velkobuněčným T lymfomem - popis případu.

Published in:

Czecho-Slovak Dermatology / Cesko-Slovenska Dermatologie, 2018, v. 93, n. 1, p. 20

By:

Vachatová, S.;
Salavec, M.;
Krejčí, L.

Publication type:

Article

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

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

Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.

Published in:

European Journal of Haematology, 2011, v. 86, n. 6, p. 536, doi. 10.1111/j.1600-0609.2011.01609.x

By:

Carlson, Aaron M.;
Lindor, Noralane M.;
Litzow, Mark R.

Publication type:

Article

The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy.

Published in:

Indian Journal of Paediatric Dermatology, 2022, v. 23, n. 4, p. 322, doi. 10.4103/ijpd.ijpd_149_21

By:

Goyal, Manisha;
Bharadia, Lalit;
Gupta, Ashok;
Kotecha, Udhaya

Publication type:

Article

Rothmund–Thomson syndrome presenting with bullous eruption: A rare case report.

Published in:

Indian Journal of Paediatric Dermatology, 2019, v. 20, n. 3, p. 243, doi. 10.4103/ijpd.IJPD_104_18

By:

Tamta, Akshat;
Bist, Jitendra;
Gupta, Gunjan;
Saini, Sumeet;
Singh, Anant

Publication type:

Article

Dual DNA unwinding activities of the Rothmund–Thomson syndrome protein, RECQ4.

Published in:

EMBO Journal, 2009, v. 28, n. 5, p. 568, doi. 10.1038/emboj.2009.13

By:

Xiaohua Xu;
Yilun Liu

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

A family with nine siblings showing signs of Rothmund–Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N‐terminal mutation of RECQL4.

Published in:

2024

By:

Yadegari, Fatemeh;
Abed, Aseel Rashid;
Abd Ali, Widad Yadallah;
Al‐Abedi, Haider Hamza;
Zarinfam, Shiva;
Aminian, Solaleh;
Majidzadeh‐A, Keivan

Publication type:

Case Study

Ophthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature.

Published in:

2017

By:

Chinmayee, J. T.;
Meghana, G. R.;
Prathiba, R. K.;
Ramesh, T. K.

Publication type:

journal article

Rothmund-Thomson syndrome.

Published in:

British Journal of Dermatology, 1991, v. 125, n. 3, p. 279

By:

Houwing, R. H.;
Oosterkamp, R. F.;
Berghuis, M.;
Beemer, F. A.;
van Vloten, W. A.

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 Associated with Annular Pancreas and Duodenal Stenosis: A Case Report.

Published in:

Pediatric Dermatology, 1993, v. 10, n. 2, p. 159, doi. 10.1111/j.1525-1470.1993.tb00046.x

By:

Blaustein, Howard S.;
Stevens, Amy W.;
Stevens, Peter D.;
Grossman, Marc E.

Publication type:

Article

Rothmund-Thomson syndrome and osteogenic sarcoma.

Published in:

Clinical & Experimental Dermatology, 1982, v. 7, n. 1, p. 119, doi. 10.1111/j.1365-2230.1982.tb02395.x

By:

Dick, D.C.;
Morley, W.N.;
Watson, J.T.

Publication type:

Article

Excision Repair Defect in Rothmund Thomson Syndrome.

Published in:

Acta Dermato-Venereologica, 1999, v. 79, n. 2, p. 150, doi. 10.1080/000155599750011417

By:

Vasseur, F.;
Delaporte, E.;
Zabot, M. T.;
Sturque, M. N.;
Barrut, D.;
Savary, J. B.;
Thomas, L.;
Thomas, P.

Publication type:

Article

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.

Published in:

2010

By:

De Somer, Lien;
Wouters, Carine;
Morren, Marie-Anne;
Vos, Rita De;
Van Den Oord, Joost;
Devriendt, Koenraad;
Meyts, Isabelle

Publication type:

Case Study

Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.

Published in:

PLoS Genetics, 2021, v. 17, n. 12, p. 1, doi. 10.1371/journal.pgen.1009971

By:

Jewell, Brittany E.;
Xu, An;
Zhu, Dandan;
Huang, Mo-Fan;
Lu, Linchao;
Liu, Mo;
Underwood, Erica L.;
Park, Jun Hyoung;
Fan, Huihui;
Gingold, Julian A.;
Zhou, Ruoji;
Tu, Jian;
Huo, Zijun;
Liu, Ying;
Jin, Weidong;
Chen, Yi-Hung;
Xu, Yitian;
Chen, Shu-Hsia;
Rainusso, Nino;
Berg, Nathaniel K.

Publication type:

Article

ROTHMUND THOMSON SYNDROME.

Published in:

2014

By:

BSOUL, THAMER MOHAMMAD;
AL-RAWASHDEH, TALAL NSER;
AL-WESHAH, MUE'N MAHMOOD;
OTHMAN, ENAS FAWAZ;
SHAWEBKEH, AYMEN DAOUD

Publication type:

Case Study

Genetic Disorder Reference Sheet: RECQL4.

Published in:

ONS Voice, 2024, p. 1

By:

Mahon, Suzanne M.

Publication type:

Article

An unusual patient with Rothmund–Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

Published in:

Clinical & Experimental Dermatology, 2006, v. 31, n. 3, p. 401, doi. 10.1111/j.1365-2230.2006.02080.x

By:

Mak, Rose K. H.;
Griffiths, W. A. D.;
Mellerio, J. E.

Publication type:

Article