Home » Research » Faculty Publications » Human Genetics

John Pappas, M.D.

Publications

Publications

1. Palmquist, M; Pappas, JG; Petrikovsky, B; Blakemore, K; Roshan, D. "Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type". Journal of maternal-fetal & neonatal medicine. 2009; 22: 924 (#J0180638)
2. Bicknell, Louise S; Farrington-Rock, Claire; Shafeghati, Yousef; Rump, Patrick; Alanay, Yasemin; Alembik, Yves; Al-Madani, Navid; Firth, Helen; Karimi-Nejad, Mohammad Hassan; Kim, Chong Ae; Leask, Kathryn; Maisenbacher, Melissa; Moran, Ellen; Pappas, John G; Prontera, Paolo; de Ravel, Thomy; Fryns, Jean-Pierre; Sweeney, Elizabeth; Fryer, Alan; Unger, Sheila; Wilson, L C; Lachman, Ralph S; Rimoin, David L; Cohn, Daniel H; Krakow, Deborah; Robertson, Stephen P. "A molecular and clinical study of Larsen syndrome caused by mutations in FLNB". Journal of medical genetics. 2007; 44: 89 (#J0163698)
3. Fiske J; Patel R; Kau E; Pappas JG; Garcia RA; Taneja SS. "Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation". Urology. 2005; 66: 1320 (#J0111046)
4. Moran, E; Hovanes, K; Perle, M; Kaffe, S; Pappas, J. "Langer mesomelic dysplasia in a patient with 45, X/46, X, idic(X) [Abstract]". Genetics in medicine. 2004; 6: 304 (#J0077979)
5. Vuoristo MM; Pappas JG; Jansen V; Ala-Kokko L. "A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome". American journal of medical genetics. Pt A. 2004; 130: 160 (#J0078739)
6. Pappas, J; Borsuk, J; Das, S; Bennett, H. "Missense mutation in the PANK2 gene in a patient with atypical Pantothenate kinase associated neurodegeneration [Abstract]". American journal of human genetics. 2003; 73: 276 (#J0101766)
7. Allan KM; Perle M; Pappas JG. "Phenotypic and molecular cytogenetic characterization of a girl with mosaicism for terminal deletions of Chromosome 5p [abstract]". American journal of human genetics. 2002; 71: 293 (#J0078743)
8. Moran ES; Vepa S; Pappas JG. "A Puerto Rican boy with dislocated hips and radial heads and carpal coalition: a new case of syndrome described only in Puerto Rican children [abstract]". American journal of human genetics. 2002; 71: 274 (#J0078742)
9. Pappas JG; Duncan C; Genovese M; Gu H; Jenkins EC. "Deletion 3p25 in a mother and child [abstract]". American journal of human genetics. 2002; 71: 301 (#J0078744)
10. Pappas JG; Reich E; Allan K; McMorrow ELE; Perle M; Wyandt HE; Milunski JM. "Phenotypic and molecular cytogenetic characterization of a child with a terminal deletion of 7q [Del(7) (Q36.2)] [abstract]". American journal of human genetics. 2002; 71: 298 (#J0078745)
11. Pappas JG; Punales-Morejon D; Penchaszadeh VB. "Huntington's disease with childhood onset of mental retardation and possible late onset disease in the father [abstract]". American journal of human genetics. 2000; 67: 113 (#J0078753)
12. Pappas JG; Rimar E; Penchaszadeh VB. "Possible mother-daughter transmission of Wildrervank syndrome [abstract]". American journal of human genetics. 1999; 65: A337 (#J0078752)
13. Pappas JG; Sadiq A; Bhatt J; Babu A; Penchaszadeh VB. "De novo terminal deletion of 11q [del(11)(q24.2)] [abstract]". American journal of human genetics. 1998; 63: A146 (#J0078751)
14. Zhang YH; Guo W; Wagner RL; Huang BL; McCabe L; Vilain E; Burris TP; Anyane-Yeboa K; Burghes AH; Chitayat D; Chudley AE; Genel M; Gertner JM; Klingensmith GJ; Levine SN; Nakamoto J; New MI; Pagon RA; Pappas JG; Quigley CA; Rosenthal IM; Baxter JD; Fletterick RJ; McCabe ER. "DAX1 mutations map to putative structural domains in a deduced three-dimensional model". American journal of human genetics. 1998; 62: 855 (#J0078740)
15. Pappas JG; Hina SL; Bogosian V; Bhatt J; Babu A; Penchaszadeh VB. "De novo duplication of distal 10q[dup(10)(q25.3q26.2] [abstract]". American journal of human genetics. 1997; 61: A137 (#J0078750)
16. Zhang Y-H; Huang BL; Guo W; Vilain E; McCabe L; Buris TP; Anyane-Yeboa K; Burghes A; Chitayat D; Chudley AE; Gerner JM; Klingensmith G; Nakamoto J; New M; Pappas JG; Quigley CA; Rosenthal JM; Salisbury S; McCabe ERB. "Mutations in DAX1 identified by sequencing of genomic DNA from patients with Adrenal Hypoplasia Congenita (AHC) [abstract]". American journal of human genetics. 1996; 59: A296 (#J0078749)
17. Pappas JG; Havens G; Bogosian V; Batt J; Paka K; Babu A; Penchaszadeh VB. "Trisomy 2 mosaicism [abstract]". American journal of human genetics. 1995; 57: A286 (#J0078747)
18. Colp C; Pappas J; Moran D; Lieberman J. "Variants of alpha 1-antitrypsin in Puerto Rican children with asthma". Chest. 1993; 103: 812 (#J0078737)

All data from NYU School of Medicine Ehrman Medical Library Faculty Bibliography

NYU Faculty may edit their publications and access other personalized services at http://myinfo.med.nyu.edu

For more information contact: facbib@library.med.nyu.edu
or see: http://library.med.nyu.edu/library/eresources/faculty/bib-faq.html