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Items: 33

1.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC.

Genet Med. 2018 Oct 15. doi: 10.1038/s41436-018-0336-6. [Epub ahead of print]

PMID:
30327536
2.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC.

Genet Med. 2018 Sep 24. doi: 10.1038/s41436-018-0137-y. [Epub ahead of print] Erratum in: Genet Med. 2018 Oct 15;:.

PMID:
30245509
3.

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.

Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS.

Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0270-7. [Epub ahead of print]

PMID:
30214072
4.

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Zagnoli-Vieira G, Bruni F, Thompson K, He L, Walker S, de Brouwer APM, Taylor R, Niyazov D, Caldecott KW.

Neurol Genet. 2018 Aug 1;4(4):e262. doi: 10.1212/NXG.0000000000000262. eCollection 2018 Aug.

5.

Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.

Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE.

Mol Diagn Ther. 2018 Oct;22(5):571-593. doi: 10.1007/s40291-018-0352-x. Review.

6.

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bönnemann CG, Dowling JJ, Meilleur KG.

Front Neurol. 2018 Mar 5;9:118. doi: 10.3389/fneur.2018.00118. eCollection 2018.

7.

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT.

J Med Genet. 2018 Aug;55(8):561-566. doi: 10.1136/jmedgenet-2017-104759. Epub 2017 Sep 2.

8.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C.

Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12.

PMID:
28777376
9.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C.

Genet Med. 2016 Nov;18(11):1143-1150. doi: 10.1038/gim.2016.18. Epub 2016 Mar 17. Erratum in: Genet Med. 2017 Aug;19(8):962.

PMID:
26986877
10.

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.

Niyazov DM, Kahler SG, Frye RE.

Mol Syndromol. 2016 Jul;7(3):122-37. doi: 10.1159/000446586. Epub 2016 Jun 3. Review.

11.

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F.

Mol Genet Metab. 2016 Jul;118(3):178-84. doi: 10.1016/j.ymgme.2016.04.009. Epub 2016 Apr 20.

PMID:
27312126
12.

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

Okur V, Cho MT, Henderson L, Retterer K, Schneider M, Sattler S, Niyazov D, Azage M, Smith S, Picker J, Lincoln S, Tarnopolsky M, Brady L, Bjornsson HT, Applegate C, Dameron A, Willaert R, Baskin B, Juusola J, Chung WK.

Hum Genet. 2016 Jul;135(7):699-705. doi: 10.1007/s00439-016-1661-y. Epub 2016 Apr 5.

PMID:
27048600
13.

Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency.

Niyazov D, Africk D.

Mol Syndromol. 2015 Oct;6(4):204-6. doi: 10.1159/000440660. Epub 2015 Sep 18.

14.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK.

Am J Hum Genet. 2015 Sep 3;97(3):457-64. doi: 10.1016/j.ajhg.2015.07.014. Epub 2015 Aug 20.

15.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M.

Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9.

16.

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.

Bettinelli AL, Mulder TJ, Funke BH, Lafferty KA, Longo SA, Niyazov DM.

Am J Med Genet A. 2013 Dec;161A(12):3187-90. doi: 10.1002/ajmg.a.36182. Epub 2013 Aug 16.

PMID:
23956225
17.

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R; Mitochondrial Medicine Society Clinical Directors Working Group; MMS Clinical Director's Work Group, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA.

Mitochondrion. 2014 Jan;14(1):26-33. doi: 10.1016/j.mito.2013.07.116. Epub 2013 Jul 26.

PMID:
23891656
18.

Investigation of NRXN1 deletions: clinical and molecular characterization.

Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG.

Am J Med Genet A. 2013 Apr;161A(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12.

PMID:
23495017
19.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE.

N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12. Erratum in: N Engl J Med. 2012 Dec 13;367(24):2362.

20.

A copy number variation morbidity map of developmental delay.

Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE.

Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. Erratum in: Nat Genet. 2014 Sep;46(9):1040.

21.

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.

Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29.

PMID:
21800092
22.

Assessing low-frequency repetitive transcranial magnetic stimulation with functional magnetic resonance imaging: a case series.

Glielmi CB, Butler AJ, Niyazov DM, Darling WG, Epstein CM, Alberts JL, Hu XP.

Physiother Res Int. 2014 Jun;19(2):117-25. doi: 10.1002/pri.518. Epub 2011 Jul 18.

PMID:
21766399
23.

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham JM Jr.

Am J Med Genet A. 2011 Jun;155A(6):1336-51. doi: 10.1002/ajmg.a.34049. Epub 2011 May 5.

24.

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.

Slavotinek AM, Rosenfeld JA, Chao R, Niyazov D, Eswara M, Bader PI, Stockton DW, Stankiewicz P, Adam MP.

Am J Med Genet A. 2011 May;155A(5):1196-201. doi: 10.1002/ajmg.a.34002. Epub 2011 Apr 7. No abstract available.

PMID:
21480483
25.

Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure.

Homan DJ, Niyazov DM, Fisher PW, Mandras S, Patel H, Bates M, Parrino G, Ventura HO.

Congest Heart Fail. 2011 Mar-Apr;17(2):102-4. doi: 10.1111/j.1751-7133.2011.00211.x. No abstract available.

26.

A newborn with congenital complete atrioventricular block, lissencephaly, and skeletal abnormalities: a case of suspected cytomegalovirus infection.

Mulder TJ, Niyazov DM, Kattash MM, Longo SA, Robichaux Iii AG, Snyder CS.

Congenit Heart Dis. 2010 Sep-Oct;5(5):486-90. doi: 10.1111/j.1747-0803.2010.00390.x.

PMID:
21087439
27.

An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and Noonan syndromes.

DeSena HC, Niyazov DM, Parrino PE, Lucas VW, Shah SB, Moodie DS.

Congenit Heart Dis. 2010 Jan-Feb;5(1):70-5. doi: 10.1111/j.1747-0803.2009.00329.x.

PMID:
20136862
28.

Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.

Hayes LL, Simoneaux SF, Palasis S, Niyazov DM.

Pediatr Radiol. 2008 Sep;38(9):994-8. doi: 10.1007/s00247-008-0877-y. Epub 2008 May 14.

PMID:
18478222
29.

Genotype/phenotype correlations in two patients with 12q subtelomere deletions.

Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP.

Am J Med Genet A. 2007 Nov 15;143A(22):2700-5.

PMID:
17937441
30.

Reductions in interhemispheric motor cortex functional connectivity after muscle fatigue.

Peltier SJ, LaConte SM, Niyazov DM, Liu JZ, Sahgal V, Yue GH, Hu XP.

Brain Res. 2005 Sep 28;1057(1-2):10-6.

PMID:
16140287
31.

Functional magnetic resonance imaging and transcranial magnetic stimulation: effects of motor imagery, movement and coil orientation.

Niyazov DM, Butler AJ, Kadah YM, Epstein CM, Hu XP.

Clin Neurophysiol. 2005 Jul;116(7):1601-10.

PMID:
15953559
32.

Diagnosis of endolymphatic hydrops in vivo with magnetic resonance imaging.

Niyazov DM, Andrews JC, Strelioff D, Sinha S, Lufkin R.

Otol Neurotol. 2001 Nov;22(6):813-7.

PMID:
11698801
33.

Fenestration surgery for otosclerosis: CT findings of an old surgical procedure.

Niyazov D, Borges A, Ishiyama A, Zaragoza E, Lufkin R.

AJNR Am J Neuroradiol. 2000 Oct;21(9):1670-2.

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