Pellegrino JE - Search Results

1

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Pellegrino JE, Schnur RE, Kline R, Zackai EH, Spinner NB. Pellegrino JE, et al. Hum Genet. 1995 Oct;96(4):485-9. doi: 10.1007/BF00191813. Hum Genet. 1995. PMID: 7557977

2

Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.

Spinner NB, Grace KR, Owens NL, Sovinsky L, Pellegrino JE, McDonald-McGinn D, Zackai E. Spinner NB, et al. Among authors: pellegrino je. Am J Med Genet. 1995 Mar 13;56(1):22-4. doi: 10.1002/ajmg.1320560107. Am J Med Genet. 1995. PMID: 7747780

3

Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.

Pellegrino JE, Pellegrino L, Spinner NB, Sladky J, Chance PF, Zackai EH. Pellegrino JE, et al. Among authors: pellegrino l. Am J Med Genet. 1996 Feb 2;61(4):377-81. doi: 10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8834051

4

Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.

Pellegrino JE, Schnur RE, Boghosian-Sell L, Strathdee G, Overhauser J, Spinner NB, Stump T, Grace K, Zackai EH. Pellegrino JE, et al. Hum Genet. 1996 Apr;97(4):532-6. doi: 10.1007/BF02267081. Hum Genet. 1996. PMID: 8834257

5

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?

Pellegrino JE, McDonald-McGinn DM, Schneider A, Markowitz RI, Zackai EH. Pellegrino JE, et al. Am J Med Genet. 1997 May 16;70(2):159-65. Am J Med Genet. 1997. PMID: 9128936

6

Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25.

Pellegrino JE, George RA, Biegel J, Farlow MR, Gardner K, Caress J, Brown MJ, Rebbeck TR, Bird TD, Chance PF. Pellegrino JE, et al. Hum Genet. 1997 Dec;101(3):277-83. doi: 10.1007/s004390050629. Hum Genet. 1997. PMID: 9439655

7

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

8

Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q.

Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF. Pellegrino JE, et al. Neurology. 1996 Apr;46(4):1128-32. doi: 10.1212/wnl.46.4.1128. Neurology. 1996. PMID: 8780104

9

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.

10

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.

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