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Items: 29

1.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.

Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D.

J Hum Genet. 2018 Mar;63(3):349-356. doi: 10.1038/s10038-017-0387-6. Epub 2017 Dec 26.

PMID:
29279609
2.

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC.

Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26.

PMID:
28548707
3.

A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

Schwartz E, Wilkens A, Noon SE, Krantz ID, Wu Y.

Am J Med Genet A. 2017 Mar;173(3):809-812. doi: 10.1002/ajmg.a.38071. No abstract available.

PMID:
28211976
4.

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

Kline AD, Krantz ID, Deardorff MA, Shirahige K, Dorsett D, Gerton JL, Wu M, Mehta D, Mills JA, Carrico CS, Noon S, Herrera PS, Horsfield JA, Bettale C, Morgan J, Huisman SA, Moss J, McCleery J, Grados M, Hansen BD, Srivastava S, Taylor-Snell E, Kerr LM, Katz O, Calof AL, Musio A, Egense A, Haaland RE.

Am J Med Genet A. 2017 May;173(5):1172-1185. doi: 10.1002/ajmg.a.38161. Epub 2017 Feb 12.

5.

Empathy survey.

Noon S.

Vet Rec. 2016 Dec 17;179(24):634. doi: 10.1136/vr.i6560. No abstract available.

PMID:
27980155
6.

CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?

Noonan KY, Russo J, Shen J, Rehm H, Halbach S, Hopp E, Noon S, Hoover J, Eskey C, Saunders JE.

Otol Neurotol. 2016 Dec;37(10):1583-1588.

PMID:
27631835
7.

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.

Mehta D, Noon SE, Schwartz E, Wilkens A, Bedoukian EC, Scarano I, Crenshaw EB 3rd, Krantz ID.

Am J Med Genet A. 2016 Oct;170(10):2523-30. doi: 10.1002/ajmg.a.37855. Epub 2016 Aug 2.

PMID:
27480936
8.

Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.

Cacioppo CN, Conway LJ, Mehta D, Krantz ID, Noon SE.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):229-36. doi: 10.1002/ajmg.c.31504. Epub 2016 May 10.

PMID:
27163126
9.

Dr. Laird G. Jackson Festschrift.

Noon SE, Deardorff MA, Krantz ID.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):72-5. doi: 10.1002/ajmg.c.31499. Epub 2016 May 5. No abstract available.

PMID:
27148798
10.

Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.

January K, Conway LJ, Deardorff M, Harrington A, Krantz ID, Loomes K, Pipan M, Noon SE.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):237-45. doi: 10.1002/ajmg.c.31500. Epub 2016 May 4.

PMID:
27145433
11.

NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.

Kaur M, Mehta D, Noon SE, Deardorff MA, Zhang Z, Krantz ID.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):163-70. doi: 10.1002/ajmg.c.31495. Epub 2016 Apr 29.

PMID:
27125329
12.

Characterization of limb differences in children with Cornelia de Lange Syndrome.

Mehta D, Vergano SA, Deardorff M, Aggarwal S, Barot A, Johnson DM, Miller NF, Noon SE, Kaur M, Jackson L, Krantz ID.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):155-62. doi: 10.1002/ajmg.c.31498. Epub 2016 Apr 27.

PMID:
27120260
13.

Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.

Katz OL, Krantz ID, Noon SE.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):92-101. doi: 10.1002/ajmg.c.31485. Epub 2016 Apr 20. Review.

PMID:
27096924
14.

A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.

Zhao J, Noon SE, Krantz ID, Wu Y.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):102-8. doi: 10.1002/ajmg.c.31488. Epub 2016 Apr 13.

PMID:
27075776
15.

Cornelia de Lange Syndrome.

Deardorff MA, Noon SE, Krantz ID.

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.
2005 Sep 16 [updated 2016 Jan 28].

16.

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.

Hao YH, Fountain MD Jr, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR.

Mol Cell. 2015 Sep 17;59(6):956-69. doi: 10.1016/j.molcel.2015.07.033. Epub 2015 Sep 10.

17.

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL.

Hum Genomics. 2015 Jul 19;9:15. doi: 10.1186/s40246-015-0038-y.

18.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F.

Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6.

19.

Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype.

Izumi K, Kellogg E, Fujiki K, Kaur M, Tilton RK, Noon S, Wilkens A, Shirahige K, Krantz ID.

Am J Med Genet A. 2015 Jun;167(6):1268-74. doi: 10.1002/ajmg.a.36976. Epub 2015 Apr 21.

PMID:
25900123
20.

Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.

Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland RE.

Am J Med Genet A. 2015 Jun;167(6):1179-92. doi: 10.1002/ajmg.a.37056. Epub 2015 Apr 21.

PMID:
25899772
21.

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.

Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID.

Nat Genet. 2015 Apr;47(4):338-44. doi: 10.1038/ng.3229. Epub 2015 Mar 2.

22.

NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.

Izumi K, Noon S, Wilkens A, Krantz ID.

Eur J Med Genet. 2014 Oct;57(10):558-61. doi: 10.1016/j.ejmg.2014.08.003. Epub 2014 Aug 10.

PMID:
25118008
23.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.

Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.

24.

Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.

Finegold DN, Baty CJ, Knickelbein KZ, Perschke S, Noon SE, Campbell D, Karlsson JM, Huang D, Kimak MA, Lawrence EC, Feingold E, Meriney SD, Brufsky AM, Ferrell RE.

Clin Cancer Res. 2012 Apr 15;18(8):2382-90. doi: 10.1158/1078-0432.CCR-11-2303. Epub 2012 Feb 20.

25.

Effects of head extension and tongue protrusion on voice perturbation measures.

Lin E, Jiang J, Noon SD, Hanson DG.

J Voice. 2000 Mar;14(1):8-16.

PMID:
10764112
26.

Oral flora of elderly patients following acute medical admission.

Preston AJ, Gosney MA, Noon S, Martin MV.

Gerontology. 1999 Jan-Feb;45(1):49-52.

PMID:
9852381
27.

Nursing Mirror clinical forum. Orthopaedic care.

Noon S.

Nurs Mirror. 1984 Jan 18;158(3):i-ii. No abstract available.

PMID:
6560554
28.

The formulation of a district laundry policy.

Noon SE, Noy MF.

Nurs Times. 1981 Jun 4;77(23):979-82. No abstract available.

PMID:
6909833
29.

Antibiotic usage in Kupat Holim (Sick Fund) clinics. A pilot survey and evaluation.

Cohen SR, Friedland G, Noon SB, Glick S.

Isr J Med Sci. 1979 Oct;15(10):811-6.

PMID:
521258

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