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Items: 1 to 20 of 135

1.

Epidermolysis bullosa: prospects for cell-based therapies.

Uitto J.

J Invest Dermatol. 2008 Sep;128(9):2140-2. doi: 10.1038/jid.2008.216.

2.

Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders.

Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, Wessels A, Van Eyk J, Dietz HC; National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group.

Circulation. 2008 Aug 12;118(7):785-91. doi: 10.1161/CIRCULATIONAHA.108.783753. No abstract available.

3.

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.

Sander CS, Salman N, van Geel M, Broers JL, Al-Rahmani A, Chedid F, Hausser I, Oji V, Al Nuaimi K, Berger TG, Verstraeten VL.

Br J Dermatol. 2008 Sep;159(4):961-7. doi: 10.1111/j.1365-2133.2008.08772.x. Epub 2008 Jul 30.

PMID:
18671782
4.

Osteogenesis imperfecta.

Brusin JH.

Radiol Technol. 2008 Jul-Aug;79(6):535-48; quiz 549-51. Review.

PMID:
18650529
5.

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B.

Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799.

6.

Restrictive dermopathy: a rare laminopathy.

Thill M, Nguyen TD, Wehnert M, Fischer D, Hausser I, Braun S, Jackisch C.

Arch Gynecol Obstet. 2008 Sep;278(3):201-8. doi: 10.1007/s00404-008-0676-6. Epub 2008 May 10.

PMID:
18470519
7.

Osteogenesis Imperfecta: update on presentation and management.

Cheung MS, Glorieux FH.

Rev Endocr Metab Disord. 2008 Jun;9(2):153-60. doi: 10.1007/s11154-008-9074-4. Epub 2008 Apr 11. Review.

PMID:
18404382
8.

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G.

J Am Acad Dermatol. 2008 Jun;58(6):931-50. doi: 10.1016/j.jaad.2008.02.004. Epub 2008 Apr 18.

PMID:
18374450
9.

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C.

Am J Med Genet A. 2008 Apr 15;146A(8):977-83. doi: 10.1002/ajmg.a.32242.

PMID:
18348261
10.

Osteogenesis imperfecta.

Glorieux FH.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):85-100. doi: 10.1016/j.berh.2007.12.012. Review.

PMID:
18328983
11.

Ehlers-Danlos syndrome--a historical review.

Parapia LA, Jackson C.

Br J Haematol. 2008 Apr;141(1):32-5. doi: 10.1111/j.1365-2141.2008.06994.x.

PMID:
18324963
12.

Anaesthetic management of two different modes of delivery in patients with dystrophic epidermolysis bullosa.

Baloch MS, Fitzwilliams B, Mellerio J, Lakasing L, Bewley S, O'Sullivan G.

Int J Obstet Anesth. 2008 Apr;17(2):153-8. doi: 10.1016/j.ijoa.2007.04.008. Epub 2008 Mar 4.

PMID:
18308542
13.

Natural variation in four human collagen genes across an ethnically diverse population.

Chan TF, Poon A, Basu A, Addleman NR, Chen J, Phong A, Byers PH, Klein TE, Kwok PY.

Genomics. 2008 Apr;91(4):307-14. doi: 10.1016/j.ygeno.2007.12.008. Epub 2008 Feb 12.

14.

A 12-bp deletion in the 5'-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans.

Wang H, Sammel MD, Tromp G, Gotsch F, Halder I, Shriver MD, Romero R, Strauss JF 3rd.

Hum Mutat. 2008 Feb;29(2):332. doi: 10.1002/humu.9522.

PMID:
18205191
15.

Genetic and epigenetic mechanisms combine to control MMP1 expression and its association with preterm premature rupture of membranes.

Wang H, Ogawa M, Wood JR, Bartolomei MS, Sammel MD, Kusanovic JP, Walsh SW, Romero R, Strauss JF 3rd.

Hum Mol Genet. 2008 Apr 15;17(8):1087-96. doi: 10.1093/hmg/ddm381. Epub 2008 Jan 4.

PMID:
18178580
16.

Cutis laxa associated with central hypothyroidism owing to isolated thyrotropin deficiency in a newborn.

Koklu E, Gunes T, Ozturk MA, Akcakus M, Buyukkayhan D, Kurtoglu S.

Pediatr Dermatol. 2007 Sep-Oct;24(5):525-8.

PMID:
17958802
17.

Osteogenesis imperfecta:epidemiology and pathophysiology.

Martin E, Shapiro JR.

Curr Osteoporos Rep. 2007 Sep;5(3):91-7. Review.

PMID:
17925189
18.

Pregnancy management in type III maternal osteogenesis imperfecta.

Parasuraman R, Taylor MJ, Liversedge H, Gilg J.

J Obstet Gynaecol. 2007 Aug;27(6):619-21. No abstract available.

PMID:
17896267
19.

Collagen 1Alpha1 and transforming growth factor-beta polymorphisms in women with cervical insufficiency.

Warren JE, Silver RM, Dalton J, Nelson LT, Branch DW, Porter TF.

Obstet Gynecol. 2007 Sep;110(3):619-24.

PMID:
17766609
20.

Ehlers-Danlos syndrome in pregnancy.

Jaleel S, Olah K.

J Obstet Gynaecol. 2007 May;27(4):420-1. No abstract available.

PMID:
17654199

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