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Items: 27

1.

The neuropsychological phenotype of Chediak-Higashi disease.

Shirazi TN, Snow J, Ham L, Raglan GB, Wiggs EA, Summers AC, Toro C, Introne WJ.

Orphanet J Rare Dis. 2019 May 6;14(1):101. doi: 10.1186/s13023-019-1049-x.

2.

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS.

Am J Hum Genet. 2019 Mar 7;104(3):520-529. doi: 10.1016/j.ajhg.2019.01.006. Epub 2019 Feb 26.

PMID:
30824121
3.

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR.

Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7.

4.

One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.

Adams DR, Menezes S, Jauregui R, Valivullah ZM, Power B, Abraham M, Jeffrey BG, Garced A, Alur RP, Cunningham D, Wiggs E, Merideth MA, Chiang PW, Bernstein S, Ito S, Wakamatsu K, Jack RM, Introne WJ, Gahl WA, Brooks BP.

JCI Insight. 2019 Jan 24;4(2). pii: 124387. doi: 10.1172/jci.insight.124387. [Epub ahead of print]

5.

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR.

Am J Med Genet A. 2018 Dec;176(12):2819-2823. doi: 10.1002/ajmg.a.40514. Epub 2018 Oct 4.

PMID:
30369044
6.

Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.

O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL Jr, Gahl WA, Gochuico BR.

Mol Genet Metab. 2018 Sep;125(1-2):168-173. doi: 10.1016/j.ymgme.2018.07.012. Epub 2018 Jul 23.

PMID:
30055995
7.

Chediak-Higashi Syndrome.

Toro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Mar 3 [updated 2018 Jul 5].

8.

Periodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response.

Thumbigere Math V, Rebouças P, Giovani PA, Puppin-Rontani RM, Casarin R, Martins L, Wang L, Krzewski K, Introne WJ, Somerman MJ, Nociti FH Jr, Kantovitz KR.

JDR Clin Trans Res. 2018 Jan;3(1):35-46. doi: 10.1177/2380084417724117. Epub 2017 Aug 3.

9.

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.

Gil-Krzewska A, Saeed MB, Oszmiana A, Fischer ER, Lagrue K, Gahl WA, Introne WJ, Coligan JE, Davis DM, Krzewski K.

J Allergy Clin Immunol. 2018 Sep;142(3):914-927.e6. doi: 10.1016/j.jaci.2017.10.040. Epub 2017 Dec 11.

10.

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Chiang SCC, Wood SM, Tesi B, Akar HH, Al-Herz W, Ammann S, Belen FB, Caliskan U, Kaya Z, Lehmberg K, Patiroglu T, Tokgoz H, Ünüvar A, Introne WJ, Henter JI, Nordenskjöld M, Ljunggren HG, Meeths M, Ehl S, Krzewski K, Bryceson YT.

Front Immunol. 2017 Apr 18;8:426. doi: 10.3389/fimmu.2017.00426. eCollection 2017.

11.

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program, Gahl WA, Huizing M, Smith ACM.

Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17.

12.

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.

13.

Peripheral nervous system manifestations of Chediak-Higashi disease.

Lehky TJ, Groden C, Lear B, Toro C, Introne WJ.

Muscle Nerve. 2017 Mar;55(3):359-365. doi: 10.1002/mus.25259. Epub 2016 Dec 16.

14.

Alkaptonuria.

Introne WJ, Gahl WA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 May 9 [updated 2016 May 12].

15.

A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.

Porfirio B, Sestini R, Gorelli G, Cordovana M, Mannoni A, Usher JL, Introne WJ, Gahl WA, Vilboux T.

JIMD Rep. 2016;30:45-52. Epub 2016 Mar 10.

16.

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.

17.

Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.

Gil-Krzewska A, Wood SM, Murakami Y, Nguyen V, Chiang SCC, Cullinane AR, Peruzzi G, Gahl WA, Coligan JE, Introne WJ, Bryceson YT, Krzewski K.

J Allergy Clin Immunol. 2016 Apr;137(4):1165-1177. doi: 10.1016/j.jaci.2015.08.039. Epub 2015 Oct 21.

18.

Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response.

Wang L, Kantovitz KR, Cullinane AR, Nociti FH Jr, Foster BL, Roney JC, Tran AB, Introne WJ, Somerman MJ.

Orphanet J Rare Dis. 2014 Dec 21;9:212. doi: 10.1186/s13023-014-0212-7.

19.

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.

Weisfeld-Adams JD, Mehta L, Rucker JC, Dembitzer FR, Szporn A, Lublin FD, Introne WJ, Bhambhani V, Chicka MC, Cho C.

Orphanet J Rare Dis. 2013 Mar 22;8:46. doi: 10.1186/1750-1172-8-46.

20.

Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.

Bhambhani V, Introne WJ, Lungu C, Cullinane A, Toro C.

Mov Disord. 2013 Feb;28(2):127-9. doi: 10.1002/mds.25386. No abstract available.

21.

Aortic stenosis and vascular calcifications in alkaptonuria.

Hannoush H, Introne WJ, Chen MY, Lee SJ, O'Brien K, Suwannarat P, Kayser MA, Gahl WA, Sachdev V.

Mol Genet Metab. 2012 Feb;105(2):198-202. doi: 10.1016/j.ymgme.2011.10.017. Epub 2011 Oct 30.

22.

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M.

PLoS One. 2011;6(8):e22861. doi: 10.1371/journal.pone.0022861. Epub 2011 Aug 8.

23.

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.

Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA.

Mol Genet Metab. 2011 Aug;103(4):307-14. doi: 10.1016/j.ymgme.2011.04.016. Epub 2011 May 6.

24.

Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes.

Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC.

Oral Dis. 2009 Apr;15(3):187-95. doi: 10.1111/j.1601-0825.2009.01521.x. Epub 2009 Feb 19.

25.

Phenotype and course of Hutchinson-Gilford progeria syndrome.

Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ.

N Engl J Med. 2008 Feb 7;358(6):592-604. doi: 10.1056/NEJMoa0706898.

26.

Natural history of alkaptonuria.

Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA.

N Engl J Med. 2002 Dec 26;347(26):2111-21.

27.

Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.

Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl WA.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):136-42.

PMID:
12359141

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