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Items: 1 to 20 of 41

1.

A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.

Urraca N, Potter B, Hundley R, Pivnick EK, McVicar K, Thibert RL, Ledbetter C, Chamberlain R, Miravalle L, Sirois CL, Chamberlain S, Reiter LT.

Front Genet. 2016 Nov 25;7:205. eCollection 2016.

2.

Neonatal Hospital Course and Outcomes of Live-born Infants with Trisomy 18 at Two Tertiary Care Centers in the United States.

Dereddy NR, Pivnick EK, Upadhyay K, Dhanireddy R, Talati AJ.

Am J Perinatol. 2017 Feb;34(3):270-275. doi: 10.1055/s-0036-1586753. Epub 2016 Aug 4.

PMID:
27490773
3.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U.

Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.

4.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L.

Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21.

5.

Trigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome.

Choudhri AF, Patel RM, Wilroy RS, Pivnick EK, Whitehead MT.

Am J Med Genet A. 2015 Jan;167A(1):238-42. doi: 10.1002/ajmg.a.36830. Epub 2014 Oct 22.

PMID:
25339626
6.

Imaging of acute invasive fungal rhinosinusitis in a patient with gorlin syndrome and acute lymphocytic leukemia.

Donovan ST, Thompson JW, Sandlund JT, Adderson EE, Pivnick EK, Harreld JH.

Case Rep Otolaryngol. 2013;2013:272314. doi: 10.1155/2013/272314. Epub 2013 Jun 18.

7.

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.

Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT.

Autism Res. 2013 Aug;6(4):268-79. doi: 10.1002/aur.1284. Epub 2013 Mar 14.

8.

A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.

Jones KL, Pivnick EK, Hines-Dowell S, Weese-Mayer DE, Berry-Kravis EM, Santiago T, Nnorom C, Pourcyrous M.

Pediatrics. 2012 Nov;130(5):e1382-4. doi: 10.1542/peds.2011-3844. Epub 2012 Oct 8.

PMID:
23045564
9.

Phenocopy of warfarin syndrome in an infant born to a mother with sickle cell anemia and severe transfusional iron overload.

Xie Y, Pivnick EK, Cohen HL, Adams-Graves PE, Pourcyrous M, Aygun B, Hankins JS.

J Pediatr Hematol Oncol. 2013 Aug;35(6):e265-8. doi: 10.1097/MPH.0b013e3182678f68.

PMID:
23018567
10.

Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES).

Robinson WS, Arnold SR, Michael CF, Vickery JD, Schoumacher RA, Pivnick EK, Ward JC, Nagabhushanam V, Lew DB.

Clin Mol Allergy. 2011 Nov 29;9:14. doi: 10.1186/1476-7961-9-14.

11.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR.

Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944.

12.

Wilms tumor in a patient with 22q11.2 microdeletion.

Finch PT, Pivnick EK, Furman W, Odom CC.

Am J Med Genet A. 2011 May;155A(5):1162-4. doi: 10.1002/ajmg.a.33957. Epub 2011 Mar 31.

PMID:
21456030
13.

Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure.

Donepudi SK, Stocks RM, Pivnick EK, Mineck C, Thompson JW.

Int J Pediatr Otorhinolaryngol. 2009 Jun;73(6):861-6. doi: 10.1016/j.ijporl.2009.03.008. Epub 2009 Apr 14.

PMID:
19368978
14.

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS.

Genet Med. 2009 Mar;11(3):210-9. doi: 10.1097/GIM.0b013e31819d0996.

PMID:
19287243
15.

Goltz syndrome: report of two severe cases.

Scott RW, Pivnick EK, Dowell SH, Eubanks JW, Huang EY, Van den Veyver IB, Wang X.

BMJ Case Rep. 2009;2009. pii: bcr09.2008.0909. doi: 10.1136/bcr.09.2008.0909. Epub 2009 Mar 17.

16.

An infant with erythroderma, skin scaling, chronic emesis, and intractable diarrhea.

Redding AR, Lew DB, Conley ME, Pivnick EK.

Clin Pediatr (Phila). 2009 Nov;48(9):978-80. doi: 10.1177/0009922808323121. Epub 2008 Oct 2. No abstract available.

PMID:
18832538
17.

Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy.

Oseroff AR, Shieh S, Frawley NP, Cheney R, Blumenson LE, Pivnick EK, Bellnier DA.

Arch Dermatol. 2005 Jan;141(1):60-7.

PMID:
15655143
18.

Visual evoked potentials in children with neurofibromatosis type 1.

Iannaccone A, McCluney RA, Brewer VR, Spiegel PH, Taylor JS, Kerr NC, Pivnick EK.

Doc Ophthalmol. 2002 Jul;105(1):63-81.

PMID:
12152804
19.

Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities.

Steen RG, Taylor JS, Langston JW, Glass JO, Brewer VR, Reddick WE, Mages R, Pivnick EK.

AJNR Am J Neuroradiol. 2001 May;22(5):810-7.

20.

Long-term survival in Patau syndrome.

Tunca Y, Kadandale JS, Pivnick EK.

Clin Dysmorphol. 2001 Apr;10(2):149-50.

PMID:
11310997

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