Zackai EH - 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. Among authors: zackai eh. Hum Genet. 1995 Oct;96(4):485-9. doi: 10.1007/BF00191813. Hum Genet. 1995. PMID: 7557977

2

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, et al. Driscoll DA, et al. Among authors: zackai eh. Am J Med Genet. 1992 Sep 15;44(2):261-8. doi: 10.1002/ajmg.1320440237. Am J Med Genet. 1992. PMID: 1360769

3

Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.

Ramos FJ, McDonald-McGinn DM, Emanuel BS, Zackai EH. Ramos FJ, et al. Among authors: zackai eh. Am J Med Genet. 1992 Dec 1;44(6):790-4. doi: 10.1002/ajmg.1320440614. Am J Med Genet. 1992. PMID: 1481848

4

Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?

Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH. Rose NC, et al. Among authors: zackai eh. Am J Med Genet. 1992 Mar 1;42(5):700-5. doi: 10.1002/ajmg.1320420515. Am J Med Genet. 1992. PMID: 1632442

5

Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.

Gutmann DH, Brooks ML, Emanuel BS, McDonald-McGinn DM, Zackai EH. Gutmann DH, et al. Among authors: zackai eh. Am J Med Genet. 1991 May 1;39(2):167-9. doi: 10.1002/ajmg.1320390210. Am J Med Genet. 1991. PMID: 2063919

6

The role of cytologic NOR variants in the etiology of trisomy 21.

Spinner NB, Eunpu DL, Schmickel RD, Zackai EH, McEldrew D, Bunin GR, McDermid H, Emanuel BS. Spinner NB, et al. Among authors: zackai eh. Am J Hum Genet. 1989 May;44(5):631-8. Am J Hum Genet. 1989. PMID: 2523191 Free PMC article. Review.

7

Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.

Münke M, Emanuel BS, Zackai EH. Münke M, et al. Among authors: zackai eh. Am J Med Genet. 1988 Aug;30(4):929-38. doi: 10.1002/ajmg.1320300409. Am J Med Genet. 1988. PMID: 3055987 Review.

8

Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities.

Neidich JA, Whitaker LA, Natowicz M, McDonald DM, Schnur R, Zackai EH. Neidich JA, et al. Among authors: zackai eh. Am J Med Genet Suppl. 1988;4:161-6. doi: 10.1002/ajmg.1320310516. Am J Med Genet Suppl. 1988. PMID: 3144983

9

Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male.

Münke M, Page DC, Brown LG, Armson BA, Zackai EH, Mennuti MT, Emanuel BS. Münke M, et al. Among authors: zackai eh. Hum Genet. 1988 Nov;80(3):219-23. doi: 10.1007/BF01790089. Hum Genet. 1988. PMID: 3192211

10

Thrombocytopenia with absent radius in a boy and his uncle.

Schnur RE, Eunpu DL, Zackai EH. Schnur RE, et al. Among authors: zackai eh. Am J Med Genet. 1987 Sep;28(1):117-23. doi: 10.1002/ajmg.1320280117. Am J Med Genet. 1987. PMID: 3314504 Review.

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