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Results: 1 to 20 of 388

1.

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, Boerkoel CF.

Orphanet J Rare Dis. 2015 Mar 7;10(1):27. [Epub ahead of print]

2.

MED23-associated intellectual disability in a non-consanguineous family.

Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ.

Am J Med Genet A. 2015 Apr 2. doi: 10.1002/ajmg.a.37047. [Epub ahead of print]

PMID:
25845469
3.

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH.

Hum Mol Genet. 2015 Feb 12. pii: ddv057. [Epub ahead of print]

PMID:
25678555
4.

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

Markello T, Chen D, Kwan JY, Horkayne-Szakaly I, Morrison A, Simakova O, Maric I, Lozier J, Cullinane AR, Kilo T, Meister L, Pakzad K, Bone W, Chainani S, Lee E, Links A, Boerkoel C, Fischer R, Toro C, White JG, Gahl WA, Gunay-Aygun M.

Mol Genet Metab. 2015 Mar;114(3):474-82. doi: 10.1016/j.ymgme.2014.12.307. Epub 2014 Dec 24.

PMID:
25577287
5.

Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy.

Nesterova G, Williams C, Bernardini I, Gahl WA.

Pediatr Nephrol. 2015 Jun;30(6):945-51. doi: 10.1007/s00467-014-3018-x. Epub 2014 Dec 20.

PMID:
25526929
6.

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Ikawa Y, Hess R, Dorward H, Cullinane AR, Huizing M, Gochuico BR, Gahl WA, Candotti F.

Mol Genet Metab. 2015 Jan;114(1):62-5. doi: 10.1016/j.ymgme.2014.11.006. Epub 2014 Nov 12.

PMID:
25468649
7.

Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome.

Trimble A, Gochuico BR, Markello TC, Fischer R, Gahl WA, Lee JK, Kim Y, Burdick MD, Strieter RM, Mehrad B.

Am J Respir Crit Care Med. 2014 Dec 15;190(12):1395-401. doi: 10.1164/rccm.201407-1287OC.

PMID:
25347450
8.

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA.

Am J Med Genet A. 2014 Nov;164A(11):2892-900. doi: 10.1002/ajmg.a.36709. Epub 2014 Sep 22.

PMID:
25251875
9.

Pregnancy in autosomal recessive polycystic kidney disease.

Banks N, Bryant J, Fischer R, Huizing M, Gahl WA, Gunay-Aygun M.

Arch Gynecol Obstet. 2015 Mar;291(3):705-8. doi: 10.1007/s00404-014-3445-8. Epub 2014 Sep 12.

10.

Atypical presentation of GNE myopathy with asymmetric hand weakness.

de Dios JK, Shrader JA, Joe GO, McClean JC, Williams K, Evers R, Malicdan MC, Ciccone C, Mankodi A, Huizing M, McKew JC, Bluemke DA, Gahl WA, Carrillo-Carrasco N.

Neuromuscul Disord. 2014 Dec;24(12):1063-7. doi: 10.1016/j.nmd.2014.07.006. Epub 2014 Aug 7.

PMID:
25182749
11.

Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.

Leoyklang P, Malicdan MC, Yardeni T, Celeste F, Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M.

Biomark Med. 2014;8(5):641-52. doi: 10.2217/bmm.14.2.

PMID:
25123033
12.

Important role of translational science in rare disease innovation, discovery, and drug development.

Pariser AR, Gahl WA.

J Gen Intern Med. 2014 Aug;29 Suppl 3:S804-7. doi: 10.1007/s11606-014-2881-2.

PMID:
25029971
13.

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Mankodi A, Vanderver A, Schindler A, Toro C, Gahl WA, Mahuran DJ, Blackstone C, Pierson TM.

Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389.

14.

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA.

Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13.

PMID:
24863970
15.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC; PhD for the NISC Comparative Sequencing Program, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA.

Ann Clin Transl Neurol. 2014 Mar 1;1(3):190-198.

16.

Mutation update for GNE gene variants associated with GNE myopathy.

Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M.

Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Review.

PMID:
24796702
17.

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, Wolfe L, Gahl WA, Boerkoel CF.

Genet Med. 2014 Oct;16(10):741-50. doi: 10.1038/gim.2014.29. Epub 2014 May 1.

PMID:
24784157
18.

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

Lam C, Gallo LK, Dineen R, Ciccone C, Dorward H, Hoganson GE, Wolfe L, Gahl WA, Huizing M.

Mol Genet Metab Rep. 2014 Jan 1;1:114-123.

19.

GNE myopathy: new name and new mutation nomenclature.

Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I.

Neuromuscul Disord. 2014 May;24(5):387-9. doi: 10.1016/j.nmd.2014.03.004. Epub 2014 Mar 13. No abstract available.

20.

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.

Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF.

Nat Commun. 2014;5:3251. doi: 10.1038/ncomms4251.

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