Works matching DE "DYSKERATOSIS congenita"

Results: 142

Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.

Published in:

2014

By:

Gueye, Ndeye-Aicha;
Jalas, Chaim;
Tao, Xin;
Taylor, Deanne;
Scott, Richard;
Treff, Nathan

Publication type:

Report

Multiple bilateral hip fractures in a patient with dyskeratosis congenita caused by a novel mutation in the PARN gene.

Published in:

Osteoporosis International, 2021, v. 32, n. 6, p. 1227, doi. 10.1007/s00198-020-05758-6

By:

Belaya, Z.;
Golounina, O.;
Nikitin, A.;
Tarbaeva, N.;
Pigarova, E.;
Mamedova, E.;
Vorontsova, M.;
Shafieva, I.;
Demina, I.;
Van Hul, W.

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

Progression of penile cutaneous horn to squamous cell carcinoma: A case report.

Published in:

Oncology Letters, 2014, v. 8, n. 3, p. 1211, doi. 10.3892/ol.2014.2247

By:

YIHONG ZHOU;
YUXIN TANG;
JIN TANG;
BING XIA;
YINGBO DAI

Publication type:

Article

The diagnosis and treatment of dyskeratosis congenita: a review.

Published in:

Journal of Blood Medicine, 2014, v. 5, p. 157, doi. 10.2147/JBM.S47437

By:

Fernández García, M. Soledad;
Teruya-Feldstein, Julie

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

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

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

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

Cytomegalovirus Retinitis as a Presenting Feature of Multisystem Disorder: Dyskeratosis Congenita.

Published in:

Middle East African Journal of Ophthalmology, 2017, v. 24, n. 4, p. 219, doi. 10.4103/meajo.MEAJO_230_15

By:

Parchand, Swapnil;
Barwad, Adarsh

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

Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome.

Published in:

2019

By:

Garrelfs, Mark R.;
Hoppenreijs, Esther;
Tanke, Ronald B.

Publication type:

journal article

Telomeres and Psychological Stress: Perspective on Psychopathologies.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2022, v. 59, n. 4, p. 330, doi. 10.29399/npa.28125

By:

AKAY, Güvem GÜMÜŞ

Publication type:

Article

Dyskeratosis congenita: a case repot.

Published in:

2014

By:

Mirnezami, Mina;
Pakbaz, Behfar;
Saidinejad, Zeinab

Publication type:

Case Study

DYSKERATOSIS CONGENITA AND A RARE BRAIN ABSCESS.

Published in:

Medicina (Buenos Aires), 2021, v. 81, n. 5, p. 850

By:

BAUTISTA BLAQUIER, JUAN;
IGNACIO CASTIGLIONE, JUAN;
DELORME, RICARDO;
WAINSZTEIN, NÉSTOR A.

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

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

Disqueratosis congénita.

Published in:

Dermatología Revista Mexicana, 2011, v. 55, n. 5, p. 296

By:

Díaz Mirón, Dulce Nazar;
Franco, Gisela Navarrete

Publication type:

Article

Cutaneous toxicity of a new BRAF inhibitor, LGX818 (encorafenib).

Published in:

2017

By:

Pascual, Leire Loidi;
Muruzábal, Raquel Santesteban;
Gigli, Maria Laura Álvarez;
Bayona, Juan Ignacio Yanguas;
Muruzàbal, Raquel Santesteban

Publication type:

Case Study

A novel missense mutation of the ATP2C1 gene in a Chinese patient with papular acantholytic dermatosis of the anogenital area.

Published in:

2016

By:

Xuemin Xiao;
LiHong Chen;
Baoxi Wang;
Chengrang Li;
Xiao, Xuemin;
Chen, LiHong;
Wang, Baoxi;
Li, Chengrang

Publication type:

Case Study

The wide-ranging clinical implications of the short telomere syndromes.

Published in:

Internal Medicine Journal, 2016, v. 46, n. 4, p. 393, doi. 10.1111/imj.12868

By:

Barbaro, P. M.;
Ziegler, D. S.;
Reddel, R. R.

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

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

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 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

Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.

Published in:

PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127414

By:

Gu, Bai-Wei;
Apicella, Marisa;
Mills, Jason;
Fan, Jian-Meng;
Reeves, Dara A.;
French, Deborah;
Podsakoff, Gregory M.;
Bessler, Monica;
Mason, Philip J.

Publication type:

Article

Inhibition of Human Dyskerin as a New Approach to Target Ribosome Biogenesis.

Published in:

PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101971

By:

Rocchi, Laura;
Barbosa, Arménio J. M.;
Onofrillo, Carmine;
Del Rio, Alberto;
Montanaro, Lorenzo

Publication type:

Article

Expression of the Genetic Suppressor Element 24.2 (GSE24.2) Decreases DNA Damage and Oxidative Stress in X-Linked Dyskeratosis Congenita Cells.

Published in:

PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101424

By:

Manguan-Garcia, Cristina;
Pintado-Berninches, Laura;
Carrillo, Jaime;
Machado-Pinilla, Rosario;
Sastre, Leandro;
Pérez-Quilis, Carme;
Esmoris, Isabel;
Gimeno, Amparo;
García-Giménez, Jose Luis;
Pallardó, Federico V.;
Perona, Rosario

Publication type:

Article

DNA Damage Responses and Oxidative Stress in Dyskeratosis Congenita.

Published in:

PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076473

By:

Pereboeva, Larisa;
Westin, Erik;
Patel, Toral;
Flaniken, Ian;
Lamb, Lawrence;
Klingelhutz, Aloysius;
Goldman, Frederick

Publication type:

Article

Zebrafish Models for Dyskeratosis Congenita Reveal Critical Roles of p53 Activation Contributing to Hematopoietic Defects through RNA Processing.

Published in:

PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030188

By:

Zhang, Ying;
Morimoto, Kenji;
Danilova, Nadia;
Zhang, Bo;
Lin, Shuo

Publication type:

Article

Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations.

Published in:

PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024383

By:

Vulliamy, Tom J.;
Kirwan, Michael J.;
Beswick, Richard;
Hossain, Upal;
Baqai, Charlotte;
Ratcliffe, Anna;
Marsh, Judith;
Walne, Amanda;
Dokal, Inderjeet

Publication type:

Article

A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations.

Published in:: PLoS ONE, 2009, v. 4, n. 11, p. 1, doi. 10.1371/journal.pone.0007926
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

Posterior pharyngeal wall squamous cell carcinoma arising in a patient with dyskeratosis congenita.

Published in:

Journal of Laryngology & Otology, 2012, v. 126, n. 12, p. 1299, doi. 10.1017/S0022215112001685

By:

Qureishi, A;
Lamyman, A;
Silva, P;
Cox, G

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

Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.

Published in:

Pediatric Dermatology, 2015, v. 32, n. 6, p. e263, doi. 10.1111/pde.12693

By:

Bakar, Özgür;
Işik, Ugˇur;
Canpolat, Cengiz;
Alanay, Yasemin

Publication type:

Article

Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita.

Published in:

Pediatric Dermatology, 2015, v. 32, n. 4, p. e165, doi. 10.1111/pde.12589

By:

Samuel, Bennett P.;
Duffner, Ulrich A.;
Abdel‐Mageed, Aly S.;
Vettukattil, Joseph 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