Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 97

Similar articles for PubMed (Select 24268661)

1.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, Mayosi BM.

Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21.

2.

[Hereditary fibrosing poikiloderma with contractures, myopathy and pulmonary fibrosis: The role of mutations in FAM111B].

Dereure O.

Ann Dermatol Venereol. 2014 Jun-Jul;141(6-7):478-9. doi: 10.1016/j.annder.2014.03.017. Epub 2014 Apr 22. French. No abstract available.

PMID:
24951152
3.

Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?

Khumalo NP, Pillay K, Beighton P, Wainwright H, Walker B, Saxe N, Mayosi BM, Bateman ED.

Br J Dermatol. 2006 Nov;155(5):1057-61.

PMID:
17034542
4.

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.

Concolino D, Roversi G, Muzzi GL, Sestito S, Colombo EA, Volpi L, Larizza L, Strisciuglio P.

Am J Med Genet A. 2010 Oct;152A(10):2588-94. doi: 10.1002/ajmg.a.33600.

PMID:
20734427
5.

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
6.

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
7.

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.

8.

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F.

Ann Neurol. 2000 Aug;48(2):170-80.

PMID:
10939567
9.

Congenital poikiloderma with features of hereditary acrokeratotic poikiloderma.

Draznin MB, Esterly NB, Fretzin DF.

Arch Dermatol. 1978 Aug;114(8):1207-10.

PMID:
150259
10.

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
11.

Hereditary acrokeratotic poikiloderma.

Weary PE, Manley WF Jr, Graham GF.

Arch Dermatol. 1971 Apr;103(4):409-22. No abstract available.

PMID:
4253719
12.

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean WH, Wen Y, Bagatell R, Griffin TA, Shwayder TA, Plon SE, Wang LL.

Am J Med Genet A. 2011 Feb;155A(2):337-42. doi: 10.1002/ajmg.a.33807. Epub 2010 Dec 22.

13.

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH.

Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14.

14.

Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome?

Antiñolo G, Nieto M, Borrego S, Sierra J, Rufo M, Siljeström ML.

Clin Genet. 1992 Jun;41(6):281-4.

PMID:
1623621
15.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE.

Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1.

16.

[Congenital poikiloderma of the verrucous type in Thomson syndrome with associated myopathy].

Blaheta HJ, Dummer W, Machetanz G, Drosner M.

Hautarzt. 1994 Jul;45(7):499-503. German.

PMID:
7928348
17.

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.

18.

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.

19.

[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].

Durand F, Castorina P, Morant C, Delobel B, Barouk E, Modiano P.

Ann Dermatol Venereol. 2002 Jun-Jul;129(6-7):892-5. French.

PMID:
12218919
20.

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S.

Am J Med Genet. 2000 Jan 31;90(3):223-8.

PMID:
10678659
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk