Works matching DE "DYSKERATOSIS congenita"

Results: 141

A Vietnamese case of dyskeratosis congenita.
Published in:
2018
By:
- Phuong Hoang Thi;
- Doanh Le Huu;
- Ha Vu Thai;
- Tam Tran Thanh;
- Hoa Pham Dinh;
- Khang Tran Hau;
- Koji Sugawara;
- Daisuke Tsuruta
Publication type:
Letter to the Editor
Hereditary benign intraepithelial dyskeratosis: Is this the first African case?
Published in:
2018
By:
- Omahsan, Loubab;
- Bazouti, Sabah;
- Zerrouki, Nassiba;
- Zizi, Nada;
- Dikhaye, Siham
Publication type:
Case Study
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
Long-Term Follow-Up of a Case with Dyskeratosis Congenita Caused by NHP2-V126M/X154R Mutation: Genotype-Phenotype Association.
Published in:
2019
By:
- Erdem, Melek;
- Tüfekçi, Özlem;
- Yılmaz, Şebnem;
- Alacacıoğlu, İnci;
- Ören, Hale
Publication type:
Case Study
TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity.
Published in:
International Journal of Laboratory Hematology, 2020, v. 42, n. 3, p. 316, doi. 10.1111/ijlh.13176
By:
- Terada, Kazuki;
- Miyake, Koichi;
- Yamaguchi, Hiroki;
- Miyake, Noriko;
- Yamanaka, Keiichiro;
- Kojima, Seiji;
- Ito, Etsuro;
- Inokuchi, Koiti;
- Okada, Takashi
Publication type:
Article
Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes.
Published in:
2017
By:
- Li, Qian;
- Luo, Changying;
- Luo, Chengjuan;
- Wang, Jianmin;
- Li, Benshang;
- Ding, Lixia;
- Chen, Jing
Publication type:
journal article
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 473, doi. 10.1007/s00439-013-1265-8
By:
- Ballew, Bari;
- Yeager, Meredith;
- Jacobs, Kevin;
- Giri, Neelam;
- Boland, Joseph;
- Burdett, Laurie;
- Alter, Blanche;
- Savage, Sharon
Publication type:
Article
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
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 805, doi. 10.1002/mgg3.314
By:
- Bizarro, Jonathan;
- Meier, U. Thomas
Publication type:
Article
Histopathological diagnosis of persistent pruritic eruptions associated with adult‐onset Still's disease.
Published in:
Histopathology, 2019, v. 74, n. 5, p. 759, doi. 10.1111/his.13785
By:
- Qiao, Jianjun;
- Zhou, Sha;
- Li, Sheng;
- Xue, Ruzeng;
- Pan, Yunlei;
- Tang, Shunli;
- Sun, Qingmiao;
- Wu, Yanyan;
- Wang, Su;
- Wu, Yinhua;
- Bai, Juan;
- Qu, Tingting;
- Zhang, Xiuming;
- Sun, Chuanyin;
- Fang, Hong
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
Papular acantholytic dyskeratosis of the vulva associated with familial Hailey-Hailey disease.
Published in:
Clinical & Experimental Dermatology, 2016, v. 41, n. 6, p. 628, doi. 10.1111/ced.12848
By:
- Yu, W. Y.;
- Ng, E.;
- Hale, C.;
- Hu, S.;
- Pomeranz, M. K.
Publication type:
Article
A case for diagnosis.
Published in:
Clinical & Experimental Dermatology, 2015, v. 40, n. 6, p. 697, doi. 10.1111/ced.12599
By:
- Samuelov, L.;
- Sarig, O.;
- Goldsmith, T.;
- Pavlovsky, M.;
- Goldberg, I.;
- Sagie, S.;
- Selig, S.;
- Sprecher, E.
Publication type:
Article
White papules on the anogenital area.
Published in:
Clinical & Experimental Dermatology, 2014, v. 39, n. 6, p. 766, doi. 10.1111/ced.12377
By:
- Dessinioti, C.;
- Soura, E.;
- Kittas, C.;
- Antoniou, C.
Publication type:
Article
X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora.
Published in:
Clinical & Experimental Dermatology, 2014, v. 39, n. 3, p. 310, doi. 10.1111/ced.12272
By:
- Powell, J. B.;
- Dokal, I.;
- Carr, R.;
- Taibjee, S.;
- Cave, B.;
- Moss, C.
Publication type:
Article
Dyskeratosis Congenita Dermal Fibroblasts are Defective in Supporting the Clonogenic Growth of Epidermal Keratinocytes.
Published in:
Aging & Disease, 2012, v. 3, n. 6, p. 427
By:
- Buckingham, Erin M.;
- Goldman, Frederick D.;
- Klingelhutz, Aloysius J.
Publication type:
Article
Dyskeratosis Congenita Dermal Fibroblasts are Defective in Supporting the Clonogenic Growth of Epidermal Keratinocytes.
Published in:
Aging & Disease, 2012, v. 3, n. 3, p. 427
By:
- Buckingham, Erin M.;
- Goldman, Frederick D.;
- Klingelhutz, Aloysius J.
Publication type:
Article
Zinsser-Cole-Engman Syndrome: A Rare Case Report.
Published in:
Journal of Clinical & Diagnostic Research, 2016, v. 10, n. 6, p. 7, doi. 10.7860/JCDR/2016/18744.7964
By:
- PENMATSA, CHAITANYA;
- JAMPANAPALLI, SHARADA REDDY;
- BEZAWADA, SUSHMA;
- CHOWDARY BIRAPU, UDAY KUMAR;
- RADHARAPU, VASANTHA KUMARI
Publication type:
Article
DYSKERATOSIS CONGENITA AND A RARE BRAIN ABSCESS.
Published in:
Revista Medicina, 2021, v. 81, n. 5, p. 850
By:
- BAUTISTA BLAQUIER, JUAN;
- IGNACIO CASTIGLIONE, JUAN;
- DELORME, RICARDO;
- WAINSZTEIN, NÉSTOR A.
Publication type:
Article
Dyskeratosis Congenita: A Rare Case Report.
Published in:
2013
By:
- Roy, B.;
- Mondal, G.;
- Paul, D.;
- Kalam, A.;
- Basu, K.
Publication type:
Case Study
Papular acantholytic dyskeratosis of the anogenital and genitocrural area: case series and review of the literature.
Published in:
Journal of Cutaneous Pathology, 2016, v. 43, n. 9, p. 749, doi. 10.1111/cup.12736
By:
- Al‐Muriesh, Maher;
- Abdul‐fattah, Bilal;
- Wang, Xia;
- Zhao, Mengjie;
- Chen, Siyuan;
- Huang, Changzheng
Publication type:
Article
Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease.
Published in:
Journal of Cutaneous Pathology, 2015, v. 42, n. 11, p. 853, doi. 10.1111/cup.12551
By:
- Knopp, Eleanor A.;
- Saraceni, Corey;
- Moss, Jeremy;
- McNiff, Jennifer M.;
- Choate, Keith A.
Publication type:
Article
Dyskeratosis congenita: a case repot.
Published in:
2014
By:
- Mirnezami, Mina;
- Pakbaz, Behfar;
- Saidinejad, Zeinab
Publication type:
Case Study
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
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
Telomerase RNA biosynthesis and processing.
Published in:
Biochemistry (00062979), 2012, v. 77, n. 10, p. 1120, doi. 10.1134/S0006297912100045
By:
- Smekalova, E.;
- Shubernetskaya, O.;
- Zvereva, M.;
- Gromenko, E.;
- Rubtsova, M.;
- Dontsova, O.
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
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
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
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
Dyskeratosis of the Face: A Quiz.
Published in:
Acta Dermato-Venereologica, 2016, v. 96, n. 2, p. 96, doi. 10.2340/00015555-2207
By:
- Vuong, Valérie;
- Monsel, Gentiane;
- Cavelier-Balloy, Bénedicte;
- Battistella, Maxime;
- Collet, Evelyne;
- Bagot, Martine;
- Basset-Seguin, Nicole;
- Viguier, Manuelle
Publication type:
Article
Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report.
Published in:
2019
By:
- Watanabe, Motoko;
- Yamamoto, Gou;
- Fujiyoshi, Kenji;
- Akagi, Yoshito;
- Kakuta, Miho;
- Nishimura, Yoji;
- Akagi, Kiwamu
Publication type:
journal article
Acantholytic dyskeratotic acanthoma: a possible skin adverse event of vemurafenib treatment.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 10, p. e474, doi. 10.1111/jdv.14289
By:
- Komori, T.;
- Otsuka, A.;
- Kaku, Y.;
- Honda, T.;
- Kabashima, K.
Publication type:
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
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
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
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
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
Human dyskerin: beyond telomeres.
Published in:
Biological Chemistry, 2014, v. 395, n. 6, p. 593, doi. 10.1515/hsz-2013-0287
By:
- Angrisani, Alberto;
- Vicidomini, Rosario;
- Turano, Mimmo;
- Furia, Maria
Publication type:
Article
The neuroradiological findings in a case of Revesz syndrome.
Published in:
2007
By:
- Scheinfeld, Meir H.;
- Lui, Yvonne W.;
- Kolb, Edward A.;
- Engel, Harry M.;
- Gomes, William A.;
- Weidenheim, Karen M.;
- Bello, Jacqueline A.
Publication type:
journal article