Zackai EH - Search Results

1

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH. Wenger TL, et al. Among authors: zackai eh. Am J Med Genet A. 2014 Oct;164A(10):2557-66. doi: 10.1002/ajmg.a.36696. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25123255

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

Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter.

Gutmann DH, Zackai EH, McDonald-McGinn DM, Fischbeck KH, Kamholz J. Gutmann DH, et al. Among authors: zackai eh. Am J Med Genet. 1991 Oct 1;41(1):18-20. doi: 10.1002/ajmg.1320410106. Am J Med Genet. 1991. PMID: 1659191

6

On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome.

Muenke M, Ruchelli ED, Rorke LB, McDonald-McGinn DM, Orlow MK, Isaacs A, Craparo FJ, Dunn LK, Zackai EH. Muenke M, et al. Among authors: zackai eh. Am J Med Genet. 1991 Dec 15;41(4):548-56. doi: 10.1002/ajmg.1320410436. Am J Med Genet. 1991. PMID: 1776653

7

Interstitial deletion of 4(q21q25) in a liveborn male.

Rose NC, Schneider A, McDonald-McGinn DM, Caserta C, Emanuel BS, Zackai EH. Rose NC, et al. Among authors: zackai eh. Am J Med Genet. 1991 Jul 1;40(1):77-9. doi: 10.1002/ajmg.1320400115. Am J Med Genet. 1991. PMID: 1887853 Review.

8

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

9

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation.

Münke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH. Münke M, et al. Among authors: zackai eh. Am J Med Genet. 1990 Mar;35(3):360-9. doi: 10.1002/ajmg.1320350310. Am J Med Genet. 1990. PMID: 2309783

10

New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma.

Robin NH, Grace K, DeSouza TG, McDonald-McGinn D, Zackai EH. Robin NH, et al. Among authors: zackai eh. Am J Med Genet. 1993 Nov 1;47(6):852-6. doi: 10.1002/ajmg.1320470611. Am J Med Genet. 1993. PMID: 7506484

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