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Page 1
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM. Vocke CD, et al. Among authors: pellegrino j. Am J Med Genet A. 2023 Feb;191(2):490-497. doi: 10.1002/ajmg.a.63049. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36513625 Free PMC article.
Clinical and molecular analysis in Joubert syndrome.
Pellegrino JE, Lensch MW, Muenke M, Chance PF. Pellegrino JE, et al. Am J Med Genet. 1997 Oct 3;72(1):59-62. doi: 10.1002/(sici)1096-8628(19971003)72:1<59::aid-ajmg12>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9295076
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D. Guenzel AJ, et al. Among authors: pellegrino je. Genet Med. 2020 Jun;22(6):1108-1118. doi: 10.1038/s41436-020-0764-y. Epub 2020 Feb 24. Genet Med. 2020. PMID: 32089546 Free article.
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium. Orsini JJ, et al. Among authors: pellegrino je. Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21. Genet Med. 2016. PMID: 26795590 Free article.
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M. Wasserstein MP, et al. Among authors: pellegrino je. Genet Med. 2016 Dec;18(12):1235-1243. doi: 10.1038/gim.2016.35. Epub 2016 May 12. Genet Med. 2016. PMID: 27171547 Free article.
Oculo-palatal-cerebral syndrome: a second case.
Pellegrino JE, Engel JM, Chavez D, Day-Salvatore D. Pellegrino JE, et al. Am J Med Genet. 2001 Mar 15;99(3):200-3. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1152>3.0.co;2-6. Am J Med Genet. 2001. PMID: 11241490 Review.
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