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Items: 24

1.

Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome.

MacFarlane EG, Parker SJ, Shin JY, Kang BE, Ziegler SG, Creamer TJ, Bagirzadeh R, Bedja D, Chen Y, Calderon JF, Weissler K, Frischmeyer-Guerrerio PA, Lindsay ME, Habashi JP, Dietz HC.

J Clin Invest. 2019 Feb 1;129(2):659-675. doi: 10.1172/JCI123547. Epub 2019 Jan 7.

2.

Hypercementosis Associated with ENPP1 Mutations and GACI.

Thumbigere-Math V, Alqadi A, Chalmers NI, Chavez MB, Chu EY, Collins MT, Ferreira CR, FitzGerald K, Gafni RI, Gahl WA, Hsu KS, Ramnitz MS, Somerman MJ, Ziegler SG, Foster BL.

J Dent Res. 2018 Apr;97(4):432-441. doi: 10.1177/0022034517744773. Epub 2017 Dec 15.

3.

Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.

Ziegler SG, Ferreira CR, MacFarlane EG, Riddle RC, Tomlinson RE, Chew EY, Martin L, Ma CT, Sergienko E, Pinkerton AB, Millán JL, Gahl WA, Dietz HC.

Sci Transl Med. 2017 Jun 7;9(393). pii: eaal1669. doi: 10.1126/scitranslmed.aal1669.

4.

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C.

Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622.

5.

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C.

Neurology. 2016 Apr 5;86(14):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Erratum in: Neurology. 2017 Feb 14;88(7):720. Neurology. 2017 Feb 14;88(7):721. Corrected and republished in: Neurology. 2017 Feb 14;88(7):e57-e65.

6.

Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.

Ferreira CR, Ziegler SG, Gupta A, Groden C, Hsu KS, Gahl WA.

Am J Med Genet A. 2016 May;170A(5):1308-11. doi: 10.1002/ajmg.a.37574. Epub 2016 Feb 9.

7.

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B.

Am J Med Genet A. 2016 Jan;170A(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.

8.

Cellular and clinical report of new Griscelli syndrome type III cases.

Westbroek W, Klar A, Cullinane AR, Ziegler SG, Hurvitz H, Ganem A, Wilson K, Dorward H, Huizing M, Tamimi H, Vainshtein I, Berkun Y, Lavie M, Gahl WA, Anikster Y.

Pigment Cell Melanoma Res. 2012 Jan;25(1):47-56. doi: 10.1111/j.1755-148X.2011.00901.x. Epub 2011 Oct 3.

9.

Reply to Professor Lefthériotis et al.

Markello TC, St Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA.

Mol Genet Metab. 2011 Jul;103(3):305. doi: 10.1016/j.ymgme.2011.04.008. Epub 2011 Apr 22. No abstract available.

PMID:
21592834
10.

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.

Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA.

Mol Genet Metab. 2011 May;103(1):44-50. doi: 10.1016/j.ymgme.2011.01.018. Epub 2011 Feb 3.

11.

NT5E mutations and arterial calcifications.

St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M.

N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923.

12.

Natural history of pulmonary fibrosis in two subjects with the same telomerase mutation.

El-Chemaly S, Ziegler SG, Calado RT, Wilson KA, Wu HP, Haughey M, Peterson NR, Young NS, Gahl WA, Moss J, Gochuico BR.

Chest. 2011 May;139(5):1203-1209. doi: 10.1378/chest.10-2048. Epub 2010 Oct 21.

13.

Low luteinizing hormone enhances spatial memory and has protective effects on memory loss in rats.

Ziegler SG, Thornton JE.

Horm Behav. 2010 Nov;58(5):705-13. doi: 10.1016/j.yhbeh.2010.07.002. Epub 2010 Aug 5.

PMID:
20691694
14.

In silico and functional studies of the regulation of the glucocerebrosidase gene.

Blech-Hermoni YN, Ziegler SG, Hruska KS, Stubblefield BK, Lamarca ME, Portnoy ME; NISC Comparative Sequencing Program, Green ED, Sidransky E.

Mol Genet Metab. 2010 Mar;99(3):275-82. doi: 10.1016/j.ymgme.2009.10.189. Epub 2009 Nov 4.

15.

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA.

Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20.

16.

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG.

N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.

17.

Epirubicin exhibits potent anti-tumor activity in an animal model of malignant glioma when administered via controlled-release polymers.

Recinos VR, Bekelis K, Ziegler SG, Vick D, Hertig S, Tyler BM, Li KW, Kosztowski T, Legnani FG, Brem H, Olivi A.

J Neurooncol. 2010 Mar;97(1):1-10. doi: 10.1007/s11060-009-9984-3. Epub 2009 Aug 20.

PMID:
19693439
18.

Hermansky-Pudlak syndrome type 1 in patients of Indian descent.

Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA.

Mol Genet Metab. 2009 Jul;97(3):227-33. doi: 10.1016/j.ymgme.2009.03.011. Epub 2009 Apr 2.

19.

Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.

Goker-Alpan O, Wiggs EA, Eblan MJ, Benko W, Ziegler SG, Sidransky E, Schiffmann R.

J Pediatr. 2008 Jul;153(1):89-94. doi: 10.1016/j.jpeds.2007.12.023. Epub 2008 Feb 14.

PMID:
18571543
20.

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.

Ziegler SG, Eblan MJ, Gutti U, Hruska KS, Stubblefield BK, Goker-Alpan O, LaMarca ME, Sidransky E.

Mol Genet Metab. 2007 Jun;91(2):195-200. Epub 2007 Apr 25.

21.

Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease.

Holleran WM, Ziegler SG, Goker-Alpan O, Eblan MJ, Elias PM, Schiffmann R, Sidransky E.

Clin Genet. 2006 Apr;69(4):355-7. No abstract available.

PMID:
16630170
22.

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

Eblan MJ, Nguyen J, Ziegler SG, Lwin A, Hanson M, Gallardo M, Weiser R, De Lucca M, Singleton A, Sidransky E.

Mov Disord. 2006 Feb;21(2):282-3. No abstract available.

PMID:
16261622
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