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Results: 1 to 20 of 23

Select item 228990091.

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.

Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A.

Genes Dev. 2012 Sep 1;26(17):1911-25. doi: 10.1101/gad.193169.112. Epub 2012 Aug 16.

PMID:: 22899009; [PubMed - indexed for MEDLINE]

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Select item 228851112.

RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.

Croteau DL, Rossi ML, Ross J, Dawut L, Dunn C, Kulikowicz T, Bohr VA.

Biochim Biophys Acta. 2012 Nov;1822(11):1727-34. doi: 10.1016/j.bbadis.2012.07.014. Epub 2012 Jul 31.

PMID:: 22885111; [PubMed - indexed for MEDLINE]

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Select item 228219003.

Chronic tibial nonunion in a Rothmund-Thomson syndrome patient.

Carlson AM, Thomas KB, Kirmani S, Lindor NM.

Am J Med Genet A. 2012 Sep;158A(9):2250-3. doi: 10.1002/ajmg.a.35475. Epub 2012 Jul 20.

PMID:: 22821900; [PubMed - indexed for MEDLINE]

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Select item 227118454.

Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia.

Meier M, Schwarz A.

Rheumatology (Oxford). 2012 Nov;51(11):2109-11. doi: 10.1093/rheumatology/kes143. Epub 2012 Jun 17. No abstract available.

PMID:: 22711845; [PubMed - indexed for MEDLINE]

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Select item 223579445.

RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress.

De S, Kumari J, Mudgal R, Modi P, Gupta S, Futami K, Goto H, Lindor NM, Furuichi Y, Mohanty D, Sengupta S.

J Cell Sci. 2012 May 15;125(Pt 10):2509-22. doi: 10.1242/jcs.101501. Epub 2012 Feb 22.

PMID:: 22357944; [PubMed - indexed for MEDLINE]

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Select item 220390566.

RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance.

Ghosh AK, Rossi ML, Singh DK, Dunn C, Ramamoorthy M, Croteau DL, Liu Y, Bohr VA.

J Biol Chem. 2012 Jan 2;287(1):196-209. doi: 10.1074/jbc.M111.295063. Epub 2011 Oct 28.

PMID:: 22039056; [PubMed - indexed for MEDLINE]

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Select item 219518667.

Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis.

Polese L, Merigliano S, Mungo B, Pennelli G, Norberto L.

Dis Esophagus. 2011 Nov;24(8):E41-4. doi: 10.1111/j.1442-2050.2011.01260.x. Epub 2011 Sep 23.

PMID:: 21951866; [PubMed - indexed for MEDLINE]

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Select item 218726858.

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C.

Eur J Med Genet. 2012 Jan;55(1):8-11. doi: 10.1016/j.ejmg.2011.07.004. Epub 2011 Aug 18.

PMID:: 21872685; [PubMed - indexed for MEDLINE]

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Select item 214181079.

Carlson AM, Lindor NM, Litzow MR.

Eur J Haematol. 2011 Jun;86(6):536-40. doi: 10.1111/j.1600-0609.2011.01609.x.

PMID:: 21418107; [PubMed - indexed for MEDLINE]

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Select item 2125616510.

The N-terminal region of RECQL4 lacking the helicase domain is both essential and sufficient for the viability of vertebrate cells. Role of the N-terminal region of RECQL4 in cells.

Abe T, Yoshimura A, Hosono Y, Tada S, Seki M, Enomoto T.

Biochim Biophys Acta. 2011 Mar;1813(3):473-9. doi: 10.1016/j.bbamcr.2011.01.001. Epub 2011 Jan 20.

PMID:: 21256165; [PubMed - indexed for MEDLINE]

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Select item 2114383511.

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

De Somer L, Wouters C, Morren MA, De Vos R, Van Den Oord J, Devriendt K, Meyts I.

Orphanet J Rare Dis. 2010 Dec 8;5:37. doi: 10.1186/1750-1172-5-37.

PMID:: 21143835; [PubMed - indexed for MEDLINE]

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Select item 2086055712.

Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome.

Altunay I, Fisek N, Gokdemir G, Sakız D, Cetincelik U.

Int Wound J. 2010 Dec;7(6):531-5. doi: 10.1111/j.1742-481X.2010.00734.x. Epub 2010 Sep 21.

PMID:: 20860557; [PubMed - indexed for MEDLINE]

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Select item 2081792413.

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I.

Hum Mol Genet. 2010 Nov 15;19(22):4453-61. doi: 10.1093/hmg/ddq371. Epub 2010 Sep 3.

PMID:: 20817924; [PubMed - indexed for MEDLINE]

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Select item 2061832114.

Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.

Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C.

Br J Dermatol. 2010 Oct;163(4):866-9. doi: 10.1111/j.1365-2133.2010.09929.x. Epub 2010 Sep 7.

PMID:: 20618321; [PubMed - indexed for MEDLINE]

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Select item 2050333815.

Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.

Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F.

Am J Med Genet A. 2010 Jun;152A(6):1575-9. doi: 10.1002/ajmg.a.33427. Review.

PMID:: 20503338; [PubMed - indexed for MEDLINE]

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Select item 2019433316.

Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report.

Padhy D, Madhuri V, Pulimood SA, Danda S, Walter NM, Wang LL.

J Bone Joint Surg Am. 2010 Mar;92(3):726-30. doi: 10.2106/JBJS.I.00478. No abstract available.

PMID:: 20194333; [PubMed - indexed for MEDLINE]

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Select item 2011347917.

Rothmund-Thomson syndrome.

Larizza L, Roversi G, Volpi L.

Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Review.

PMID:: 20113479; [PubMed - indexed for MEDLINE]

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Select item 1895252418.

Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome?

Otsu U, Moriwaki S, Iki M, Nozaki K, Horiguchi Y, Kiyokane K.

Eur J Dermatol. 2008 Nov-Dec;18(6):632-4. doi: 10.1684/ejd.2008.0509. Epub 2008 Oct 27.

PMID:: 18952524; [PubMed - indexed for MEDLINE]

Free Article

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Select item 1892566319.

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.

Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, McGrath J, Taïeb A.

Am J Med Genet A. 2008 Nov 1;146A(21):2762-9. doi: 10.1002/ajmg.a.32524.

PMID:: 18925663; [PubMed - indexed for MEDLINE]

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Select item 1875517720.

Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development.

Wu J, Capp C, Feng L, Hsieh TS.

Dev Biol. 2008 Nov 1;323(1):130-42. doi: 10.1016/j.ydbio.2008.08.006. Epub 2008 Aug 15.

PMID:: 18755177; [PubMed - indexed for MEDLINE]

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7 free full-text articles in PubMed Central

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. [Genes Dev. 2012]
C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.
Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A. Genes Dev. 2012 Sep 1; 26(17):1911-25. Epub 2012 Aug 16.
RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. [J Biol Chem. 2012]
RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance.
Ghosh AK, Rossi ML, Singh DK, Dunn C, Ramamoorthy M, Croteau DL, Liu Y, Bohr VA. J Biol Chem. 2012 Jan 2; 287(1):196-209. Epub 2011 Oct 28.
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. [Orphanet J Rare Dis. 2010]
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.
De Somer L, Wouters C, Morren MA, De Vos R, Van Den Oord J, Devriendt K, Meyts I. Orphanet J Rare Dis. 2010 Dec 8; 5:37. Epub 2010 Dec 8.

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