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Items: 24

1.

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Kk C, Krishnan V 5th, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth JJ, Alves S, Coutinho F, Friez MJ, Pauli RM, Unger S, Superti-Furga A, Leroy JG, Cathey SS.

Clin Dysmorphol. 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249.

PMID:
30507725
2.

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.

Huang R, Cathey S, Pollard L, Wood T.

Clin Chem. 2018 Dec;64(12):1772-1779. doi: 10.1373/clinchem.2018.289645. Epub 2018 Sep 10.

PMID:
30201803
3.

Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.

Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L.

JCI Insight. 2018 Jul 26;3(14). pii: 121596. doi: 10.1172/jci.insight.121596. [Epub ahead of print]

4.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C.

Brain. 2018 Jul 9. doi: 10.1093/brain/awy173. [Epub ahead of print]

PMID:
29985992
5.

Marine environment microfiber contamination: Global patterns and the diversity of microparticle origins.

Barrows APW, Cathey SE, Petersen CW.

Environ Pollut. 2018 Jun;237:275-284. doi: 10.1016/j.envpol.2018.02.062. Epub 2018 Feb 26.

PMID:
29494921
6.

Testing the keystone community concept: effects of landscape, patch removal, and environment on metacommunity structure.

Resetarits EJ, Cathey SE, Leibold MA.

Ecology. 2018 Jan;99(1):57-67. doi: 10.1002/ecy.2041. Epub 2017 Dec 7.

PMID:
28990166
7.

Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential.

Om A, Cathey SS, Gathings RM, Hudspeth M, Lee JA, Marzolf S, Wine Lee L.

Pediatr Dermatol. 2017 May;34(3):352-355. doi: 10.1111/pde.13119.

PMID:
28523882
8.
9.

Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis.

Deacon BS, Charles JM, Cheeseman EW, Cathey SS.

Pediatr Neurol. 2016 Sep;62:71-2. doi: 10.1016/j.pediatrneurol.2016.04.001. Epub 2016 Apr 18. No abstract available.

PMID:
27215405
10.

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH.

Hum Mutat. 2015 Nov;36(11):1048-51. doi: 10.1002/humu.22856. Epub 2015 Aug 27.

11.

Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.

Mooneyham KA, Holden KR, Cathey S, Dwivedi A, Dupont BR, Lyons MJ.

Am J Med Genet A. 2014 Nov;164A(11):2887-91. doi: 10.1002/ajmg.a.36708. Epub 2014 Aug 13.

PMID:
25123844
12.

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.

Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, Cathey SS, De Paepe A, Malfait F, Syx D, Hennekam RC, Bonafe L, Unger S, Superti-Furga A.

Am J Med Genet A. 2014 Sep;164A(9):2317-23. doi: 10.1002/ajmg.a.36668. Epub 2014 Jul 14.

PMID:
25044831
13.

Outcomes after hematopoietic stem cell transplantation for children with I-cell disease.

Lund TC, Cathey SS, Miller WP, Eapen M, Andreansky M, Dvorak CC, Davis JH, Dalal JD, Devine SM, Eames GM, Ferguson WS, Giller RH, He W, Kurtzberg J, Krance R, Katsanis E, Lewis VA, Sahdev I, Orchard PJ.

Biol Blood Marrow Transplant. 2014 Nov;20(11):1847-51. doi: 10.1016/j.bbmt.2014.06.019. Epub 2014 Jul 10.

14.

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS.

Eur J Hum Genet. 2014 May;22(5):594-601. doi: 10.1038/ejhg.2013.207. Epub 2013 Sep 18.

15.

Clinical utility of the X-chromosome array.

Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE.

Am J Med Genet A. 2013 Jan;161A(1):120-30. doi: 10.1002/ajmg.a.35698. Epub 2012 Dec 3.

PMID:
23208842
16.

Mucolipidosis III Alpha/Beta.

Leroy JG, Cathey SS, Friez MJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Aug 26 [updated 2012 May 10].

17.

Mucolipidosis II.

Leroy JG, Cathey S, Friez MJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Aug 26 [updated 2012 May 10].

18.

Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.

Kerr DA, Memoli VA, Cathey SS, Harris BT.

Arch Pathol Lab Med. 2011 Apr;135(4):503-10. doi: 10.1043/2010-0236-CR.1.

19.

The natural history and osteodystrophy of mucolipidosis types II and III.

David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D.

J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29.

20.

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ.

J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736. Epub 2009 Jul 16.

21.

Molecular order in mucolipidosis II and III nomenclature.

Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA.

Am J Med Genet A. 2008 Feb 15;146A(4):512-3. doi: 10.1002/ajmg.a.32193. No abstract available.

PMID:
18203164
22.

Newer approaches to the treatment of craniosynostosis.

Chadduck WM, Cathey SL.

J Ark Med Soc. 1986 Mar;82(10):447-51. No abstract available.

PMID:
2939057
23.

Newer concepts in the repair of pediatric cranial defects.

Chadduck WM, Cathey SL, Martin DA.

J Ark Med Soc. 1986 Feb;82(9):417-9. No abstract available.

PMID:
2937770
24.

Paraplegia caused by coarctation of the aorta and hydrocephalus.

Chadduck WM, Cathey SL, Gearhart AT, Cavin L, Glasier CM.

Childs Nerv Syst. 1986;2(3):162-4.

PMID:
3779675

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