Works matching DE "DYSKERATOSIS congenita"

Results: 142

Case report of a solitary fibrofolliculoma on the alar rim.

Published in:

Archives of Craniofacial Surgery, 2021, v. 22, n. 4, p. 214, doi. 10.7181/acfs.2021.00276

By:

Ho Yoon Jeong;
Yong Chan Bae

Publication type:

Article

Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease.

Published in:

British Journal of Dermatology, 2012, v. 167, n. 1, p. 210, doi. 10.1111/j.1365-2133.2012.10810.x

By:

Pernet, C.;
Bessis, D.;
Savignac, M.;
Tron, E.;
Guillot, B.;
Hovnanian, A.

Publication type:

Article

Malignant Transformation of Buccal Mucosa Leukoplakia in a Patient With Dyskeratosis Congenita.

Published in:

ENT: Ear, Nose & Throat Journal, 2022, v. 101, n. 1, p. 27, doi. 10.1177/0145561320938908

By:

Ohashi, Nobuhide;
Iwai, Toshinori;
Ogawa, Masaru;
Yokoo, Satoshi;
Mitsudo, Kenji

Publication type:

Article

Grover's Disease after Heart Transplantation: A Case Report.

Published in:

Case Reports in Transplantation, 2012, p. 1, doi. 10.1155/2012/126592

By:

Ippoliti, Giovanbattista;
Paulli, Marco;
Lucioni, Marco;
D'Armini, Andrea Maria;
Lauriola, Marinella;
Haleem Saaleb, Rany Mahrous

Publication type:

Article

Reduced intensity conditioning is effective for hematopoietic SCT in dyskeratosis congenita-related BM failure.

Published in:

Bone Marrow Transplantation, 2013, v. 48, n. 9, p. 1168, doi. 10.1038/bmt.2013.35

By:

Ayas, M;
Nassar, A;
Hamidieh, A A;
Kharfan-Dabaja, M;
Othman, T B;
Elhaddad, A;
Seraihy, A;
Hussain, F;
Alimoghaddam, K;
Ladeb, S;
Fahmy, O;
Bazarbachi, A;
Mohamed, S Y;
Bakr, M;
Korthof, E;
Aljurf, M;
Ghavamzadeh, A

Publication type:

Article

A reduced intensity conditioning regimen of fludarabine, cyclophosphamide, antithymocyte globulin, plus 2 Gy TBI facilitates successful hematopoietic cell engraftment in an adult with dyskeratosis congenita.

Published in:

Bone Marrow Transplantation, 2012, v. 47, n. 9, p. 1254, doi. 10.1038/bmt.2011.257

By:

Kharfan-Dabaja, M A;
Otrock, Z K;
Bacigalupo, A;
Mahfouz, R A;
Geara, F;
Bazarbachi, A

Publication type:

Article

Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita.

Published in:

Case Reports in Dermatology, 2015, v. 7, n. 2, p. 212, doi. 10.1159/000439042

By:

Panichareon, Benjaporn;
Seedapan, Thanawat;
Thongnoppakhun, Wanna;
Limwongse, Chanin;
Pithukpakorn, Manop;
Limjindaporn, Thawornchai

Publication type:

Article

Dyskeratosis Congenita Without Oral Involvement: A Rare Hereditary Disease.

Published in:

Oman Medical Journal, 2015, v. 30, n. 3, p. 212, doi. 10.5001/omj.2015.44

By:

Iraji, Fariba;
Jamshidi, Kioumars;
Pourazizi, Mohsen;
Abtahi-Naeini, Bahareh

Publication type:

Article

Kindler Syndrome: A Close Mimic of Dyskeratosis Congenita and the Need to Distinguish the Two Clinical Entities.

Published in:

2014

By:

Kapoor, Shailendra

Publication type:

Letter to the Editor

Dyskeratosis Congenita- Management and Review of Complications: A Case Report.

Published in:

Oman Medical Journal, 2013, v. 28, n. 4, p. 281, doi. 10.5001/omj.2013.78

By:

Sinha, Shivam;
Trivedi, Vikas;
Krishna, Arvind;
Rao, Nidhi

Publication type:

Article

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.

Published in:

2018

By:

Trotta, Luca;
Norberg, Anna;
Taskinen, Mervi;
Béziat, Vivien;
Degerman, Sofie;
Wartiovaara-Kautto, Ulla;
Välimaa, Hannamari;
Jahnukainen, Kirsi;
Casanova, Jean-Laurent;
Seppänen, Mikko;
Saarela, Janna;
Koskenvuo, Minna;
Martelius, Timi;
Béziat, Vivien;
Välimaa, Hannamari;
Seppänen, Mikko

Publication type:

journal article

X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene.

Published in:

Indian Journal of Dermatology, 2024, v. 69, n. 1, p. 95, doi. 10.4103/ijd.ijd_556_23

By:

Oktem, Ayse;
Kocyigit, Pelin;
Tuncalı, Timur;
Kahraman, Ulviyye;
Ozbolat, Sumeyra

Publication type:

Article

Dyskeratosis congenita with portal hypertension and oesophageal webs: A case report.

Published in:

2021

By:

Khuraiya, Sandeep;
Raidas, Ramesh;
Jain, Vinod;
Kachhwaha, Dilip

Publication type:

Case Study

Dyskeratosis congenita with DKC1 mutation: A case report.

Published in:

2020

By:

Zhao, Xing-Yun;
Zhong, Wei-Long;
Zhang, Jie;
Ma, Gang;
Hu, Hao;
Yu, Bo

Publication type:

Case Study

A CASE OF DYSKERATOSIS CONGENITA WITH PRIMARY AMENORRHEA AND ADENOCARCINOMA OF STOMACH.

Published in:

Indian Journal of Dermatology, 2011, v. 56, n. 5, p. 594, doi. 10.4103/0019-5154.87167

By:

Chakrabarti, Nandini;
Sarma, Nilendu;
Chattopadhyay, Chandan;
Chowdhuri, Atanu Roy;
Das, Chanchal;
Pal, Salil K.

Publication type:

Article

Highly atypical myeloblasts in acute myeloid leukaemia with myelodysplasia‐related changes in a patient with short telomere syndrome.

Published in:

2018

By:

Li, Yi;
Dorfman, David M.

Publication type:

Case Study

Reconsidering the indication of haematopoietic stem cell transplantation for dyskeratosis congenita.

Published in:

British Journal of Haematology, 2018, v. 183, n. 1, p. 11, doi. 10.1111/bjh.15493

By:

Kojima, Seiji;
Ehlert, Karoline

Publication type:

Article

Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita.

Published in:

British Journal of Haematology, 2018, v. 183, n. 1, p. 110, doi. 10.1111/bjh.15495

By:

Fioredda, Francesca;
Iacobelli, Simona;
Korthof, Elisabeth T.;
Knol, Cora;
Biezen, Anja;
Bresters, Dorine;
Veys, Paul;
Yoshimi, Ayami;
Fagioli, Franca;
Mats, Brune;
Zecca, Marco;
Faraci, Maura;
Miano, Maurizio;
Arcuri, Luca;
Maschan, Michael;
O'Brien, Tracey;
Diaz, Miguel A.;
Sevilla, Julian;
Smith, Owen;
Peffault de Latour, Regis

Publication type:

Article

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Published in:

British Journal of Haematology, 2015, v. 170, n. 4, p. 457, doi. 10.1111/bjh.13442

By:

Glousker, Galina;
Touzot, Fabien;
Revy, Patrick;
Tzfati, Yehuda;
Savage, Sharon A.

Publication type:

Article

Response to androgen therapy in patients with dyskeratosis congenita.

Published in:

British Journal of Haematology, 2014, v. 165, n. 3, p. 349, doi. 10.1111/bjh.12748

By:

Khincha, Payal P.;
Wentzensen, Ingrid M.;
Giri, Neelam;
Alter, Blanche P.;
Savage, Sharon A.

Publication type:

Article

Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.

Published in:

British Journal of Haematology, 2013, v. 163, n. 1, p. 81, doi. 10.1111/bjh.12475

By:

Matsui, Ken;
Giri, Neelam;
Alter, Blanche P.;
Pinto, Ligia A.

Publication type:

Article

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.

Published in:

British Journal of Haematology, 2013, v. 162, n. 4, p. 542, doi. 10.1111/bjh.12399

By:

Alter, Blanche P.;
Rosenberg, Philip S.;
Day, Thomas;
Menzel, Stephan;
Giri, Neelam;
Savage, Sharon A.;
Thein, Swee Lay

Publication type:

Article

Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.

Published in:

British Journal of Haematology, 2012, v. 159, n. 5, p. 498, doi. 10.1111/bjh.12088

By:

Gleeson, Mary;
O'Marcaigh, Aengus;
Cotter, Melanie;
Brosnahan, Donal;
Vulliamy, Tom;
Smith, Owen P.

Publication type:

Article

Erythrodermic Darier disease associated with metastatic lung adenocarcinoma.

Published in:

Dermatology Online Journal, 2020, v. 26, n. 7, p. 1, doi. 10.5070/d3267049555

By:

Hendricks, Aleksi J.;
Maarouf, Melody;
Mills, Brandy W.;
Bertoch, Spencer T.;
Davis, Tracy L.;
Shi, Vivian Y.

Publication type:

Article

Molecular mechanisms of ageing and related diseases.

Published in:

Clinical & Experimental Pharmacology & Physiology, 2014, v. 41, n. 7, p. 445, doi. 10.1111/1440-1681.12247

By:

Liu, Jun‐Ping

Publication type:

Article

Bone Marrow and Blood Diseases.

Published in:: 2013
Publication type:: Abstract

Stem cell expansion during carcinogenesis in stem cell-depleted conditional telomeric repeat factor 2 null mutant mice.

Published in:

Oncogene, 2013, v. 32, n. 43, p. 5156, doi. 10.1038/onc.2012.555

By:

Bojovic, B;
Ho, H-Y;
Wu, J;
Crowe, D L

Publication type:

Article

Pachyonychia congenita: Affecting three generations!

Published in:

Indian Journal of Paediatric Dermatology, 2018, v. 19, n. 3, p. 261, doi. 10.4103/ijpd.IJPD_11_17

By:

Singla, Rohit;
Sethi, Pihu;
Savitha, T;
Kanwar, Amrinder

Publication type:

Article

Hoyeraal-Hreidarsson Syndrome: A Rare Dyskeratosis Congenita Phenotype.

Published in:

2018

By:

Abdulla, Mansoor C.

Publication type:

Letter to the Editor

Incidental Cutaneous Reaction Patterns: Epidermolytic Hyperkeratosis, Acantholytic Dyskeratosis, and Hailey-Hailey-Like Acantholysis: A Potential Marker of Premalignant Skin Change.

Published in:

Journal of Skin Cancer, 2011, p. 1, doi. 10.1155/2011/645743

By:

Gaertner, Erich M.

Publication type:

Article

A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism.

Published in:

2015

By:

Kutbay, Nilüfer Özdemir;
Erdemir, Zehra;
Yürekli, Banu Şarer;
Karaca, Emin;
Erdoğan, Mehmet;
Çetinkalp, Şevki;
Kandiloğlu, Gülşen;
Özgen, A. Gökhan;
Özkınay, Ferda;
Saygılı, L. Füsun

Publication type:

Abstract

A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 42

By:

Kutbay, Nilüfer Özdemir;
Erdemir, Zehra;
Yürekli, Banu Şarer;
Karaca, Emin;
Erdoğan, Mehmet;
Çetinkalp, Şevki;
Kandiloğlu, Gülşen;
Özgen, A. Gökhan;
Özkınay, Ferda;
Saygılı, L. Füsun

Publication type:

Article

Revesz syndrome.

Published in:

Revista Brasileira de Oftalmologia, 2015, v. 74, n. 2, p. 110, doi. 10.5935/0034-7280.20150025

By:

Issaho, Dayane Cristine;
Ramos Moreira, Ana Tereza;
Ribeiro, Lisandro Lima;
Zago, Rommel Josué;
Ribeiro, Christie Graf

Publication type:

Article

Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves.

Published in:

Australian Veterinary Journal, 2012, v. 90, n. 12, p. 499, doi. 10.1111/j.1751-0813.2012.00998.x

By:

Kessell, AE;
Hanshaw, DM;
Finnie, JW;
Nosworthy, P

Publication type:

Article

Human ribosomes from cells with reduced dyskerin levels are intrinsically altered in translation.

Published in:

FASEB Journal, 2015, v. 29, n. 8, p. 3472, doi. 10.1096/fj.15-270991

By:

Penzo, Marianna;
Rocchi, Laura;
Brugiere, Sabine;
Carnicelli, Domenica;
Onofrillo, Carmine;
Couté, Yohann;
Brigotti, Maurizio;
Montanaro, Lorenzo

Publication type:

Article

Anaesthesia recommendations for Dyskeratosis congenita.

Published in:

Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. S20, doi. 10.19224/ai2023.S020

By:

Wong, Mike;
Wong, Chrison;
Macaulay, Bruce;
Dokal, Inderjeet;
Savage, Sharon A.

Publication type:

Article

Anaesthesia recommendations for Dyskeratosis congenita.

Published in:

Anaesthesiologie & Intensivmedizin, 2023, v. 64, n. 2, p. S20, doi. 10.19224/ai2023.S020

By:

Wong, Mike;
Wong, Chrison;
Macaulay, Bruce

Publication type:

Article

Olanzapine in the Treatment of Refractory Nausea and Vomiting: A Case Report and Review of the Literature.

Published in:

Journal of Pain & Palliative Care Pharmacotherapy, 2015, v. 29, n. 2, p. 148, doi. 10.3109/15360288.2015.1035831

By:

Langley-DeGroot, Michael;
Ma, Joseph D.;
Hirst, Jeremy;
Roeland, Eric J.

Publication type:

Article

A new role for human dyskerin in vesicular trafficking.

Published in:

FEBS Open Bio, 2017, v. 7, n. 10, p. 1453, doi. 10.1002/2211-5463.12307

By:

Di Maio, Nunzia;
Vicidomini, Rosario;
Angrisani, Alberto;
Belli, Valentina;
Furia, Maria;
Turano, Mimmo

Publication type:

Article

Telomerase Regulation from Beginning to the End.

Published in:

Genes, 2016, v. 7, n. 9, p. 64, doi. 10.3390/genes7090064

By:

MacNeil, Deanna Elise;
Bensoussan, Hélène Jeanne;
Autexier, Chantal

Publication type:

Article

Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease.

Published in:

Iranian Journal of Kidney Diseases, 2016, v. 10, n. 6, p. 416

By:

Abidi, Kamel;
Sayari, Taha;
Jallouli, Manel;
Hammi, Yousra;
Goucha Louzir, Rim;
Gargah, Tahar

Publication type:

Article

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Published in:

Nature Genetics, 2012, v. 44, n. 3, p. 338, doi. 10.1038/ng.1084

By:

Anderson, Beverley H;
Kasher, Paul R;
Mayer, Josephine;
Szynkiewicz, Marcin;
Jenkinson, Emma M;
Bhaskar, Sanjeev S;
Urquhart, Jill E;
Daly, Sarah B;
Dickerson, Jonathan E;
O'Sullivan, James;
Leibundgut, Elisabeth Oppliger;
Muter, Joanne;
Abdel-Salem, Ghada M H;
Babul-Hirji, Riyana;
Baxter, Peter;
Berger, Andrea;
Bonafé, Luisa;
Brunstom-Hernandez, Janice E;
Buckard, Johannes A;
Chitayat, David

Publication type:

Article

Connecting complex disorders through biology.

Published in:

Nature Genetics, 2012, v. 44, n. 3, p. 238, doi. 10.1038/ng.2206

By:

Savage, Sharon A

Publication type:

Article

Modern Lung Magnetic Resonance Imaging to Screen for Pulmonary Complications in Patients with Dyskeratosis Congenita.

Published in:

2021

By:

Walkup, Laura L.;
Myers, Kasiani C.;
Willmering, Matthew M.;
Mehta, Parinda A.;
Nelson, Adam S.;
Fleck, Robert J.;
Woods, Jason C.;
Davies, Stella M.;
Towe, Christopher T.

Publication type:

Letter

Squamous Cell Carcinomas of the Anterior Oral Cavity Are Commonly Associated With Simplex (or Differentiated) Oral Intraepithelial Neoplasia: Clinical and Pathologic Significance.

Published in:

International Journal of Surgical Pathology, 2014, v. 22, n. 3, p. 231, doi. 10.1177/1066896913512866

By:

Paliga, Aleksandra;
Mai, Kien T.

Publication type:

Article

Posttransplant Lymphoproliferative Disorder Complicating Hematopoietic Stem Cell Transplantation in a Patient With Dyskeratosis Congenita.

Published in:

International Journal of Surgical Pathology, 2013, v. 21, n. 5, p. 520, doi. 10.1177/1066896912468214

By:

Bohn, Olga L.;
Whitten, Joseph;
Spitzer, Barbara;
Kobos, Rachel;
Prockop, Susan;
Boulad, Farid;
Arcila, Maria;
Wang, Lu;
Teruya-Feldstein, Julie

Publication type:

Article

Vulval papules: A case for diagnosis.

Published in:

Australasian Journal of Dermatology, 2015, v. 56, n. 1, p. 44, doi. 10.1111/ajd.12120

By:

Bunce, Penelope AM;
Dixit, Shreya;
Fischer, Gayle O

Publication type:

Article

NÆVOID BASAL CELLED CAECINOMA ASSOCIATED WITH A DYSKERATOSIS OF THE PALMS AND SOLES.

Published in:

Australasian Journal of Dermatology, 1960, v. 5, n. 4, p. 204, doi. 10.1111/j.1440-0960.1960.tb01595.x

By:

Ward, W. H.

Publication type:

Article

Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

Published in:

Frontiers in Immunology, 2017, v. 8, p. 1, doi. 10.3389/fimmu.2017.01250

By:

Speckmann, Carsten;
Sangita Sahoo, Sushree;
Rizzi, Marta;
Hirabayashi, Shinsuke;
Karow, Axel;
Serwas, Nina Kathrin;
Hoemberg, Marc;
Damatova, Natalja;
Schindler, Detlev;
Vannier, Jean-Baptiste;
Boulton, Simon J.;
Pannicke, Ulrich;
Göhring, Gudrun;
Thomay, Kathrin;
Verdu-Amoros, J. J.;
Hauch, Holger;
Woessmann, Wilhelm;
Escherich, Gabriele;
Laack, Eckart;
Rindle, Liliana

Publication type:

Article

The Telomerase Complex Directly Controls Hematopoietic Stem Cell Differentiation and Senescence in an Induced Pluripotent Stem Cell Model of Telomeropathy.

Published in:

Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00345

By:

Jose, Shyam Sushama;
Tidu, Federico;
Burilova, Petra;
Kepak, Tomas;
Bendickova, Kamila;
Fric, Jan

Publication type:

Article