Zackai EH - Search Results

1

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.

Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT. Wenger TL, et al. Among authors: zackai eh. Mol Autism. 2016 May 6;7:27. doi: 10.1186/s13229-016-0090-z. eCollection 2016. Mol Autism. 2016. PMID: 27158440 Free PMC article.

2

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.

Emanuel BS, Zackai EH, Aronson MM, Mellman WJ, Moorhead PS. Emanuel BS, et al. Among authors: zackai eh. J Med Genet. 1976 Dec;13(6):501-6. doi: 10.1136/jmg.13.6.501. J Med Genet. 1976. PMID: 138742 Free PMC article.

3

Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23.

Emanuel BS, Zackai EH, Van Dyke DC, Swallow DM, Allen FH, Mellman WJ. Emanuel BS, et al. Among authors: zackai eh. Am J Med Genet. 1979;4(2):167-72. doi: 10.1002/ajmg.1320040209. Am J Med Genet. 1979. PMID: 293131

4

Interstitial deletion 13q33 resulting from maternal insertional translocation.

Emanuel BS, Zackai EH, Moreau L, Coates P, Orrechio E. Emanuel BS, et al. Among authors: zackai eh. Clin Genet. 1979 Nov;16(5):340-6. doi: 10.1111/j.1399-0004.1979.tb01013.x. Clin Genet. 1979. PMID: 293234

5

A (14;20) translocation, unbalanced, from a subject with severe congenital anomalies. Respository identification No. GM-981.

Emanuel BS, Zackai E, Mellman WJ, Aronson MM, Greene AE, Coriell LL. Emanuel BS, et al. Cytogenet Cell Genet. 1978;21(3):173. doi: 10.1159/000130891. Cytogenet Cell Genet. 1978. PMID: 657847 No abstract available.

6

A (14;20) balanced translocation, 46, XX. Repository identification No. GM-982.

Emanuel BS, Zackai E, Mellman WJ, Aronson MM, Greene AE, Coriell LL. Emanuel BS, et al. Cytogenet Cell Genet. 1978;21(3):174. doi: 10.1159/000130892. Cytogenet Cell Genet. 1978. PMID: 657848 No abstract available.

7

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

8

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

9

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

10

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

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