Emanuel BS - Search Results

1

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Cohen JL, Crowley TB, McGinn DE, McDougall C, Unolt M, Lambert MP, Emanuel BS, Zackai EH, McDonald-McGinn DM. Cohen JL, et al. Among authors: emanuel bs. Am J Med Genet A. 2018 Oct;176(10):2203-2214. doi: 10.1002/ajmg.a.40494. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244528 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. 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. 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. Clin Genet. 1979 Nov;16(5):340-6. doi: 10.1111/j.1399-0004.1979.tb01013.x. Clin Genet. 1979. PMID: 293234

5

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Driscoll DA, Budarf ML, Emanuel BS. Driscoll DA, et al. Among authors: emanuel bs. Am J Hum Genet. 1992 May;50(5):924-33. Am J Hum Genet. 1992. PMID: 1349199 Free PMC article.

6

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: emanuel bs. Am J Med Genet. 1992 Dec 1;44(6):790-4. doi: 10.1002/ajmg.1320440614. Am J Med Genet. 1992. PMID: 1481848

7

Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome.

Ramos FJ, Emanuel BS, Spinner NB. Ramos FJ, et al. Among authors: emanuel bs. Am J Med Genet. 1992 Apr 1;42(6):835-8. doi: 10.1002/ajmg.1320420618. Am J Med Genet. 1992. PMID: 1532475

8

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: emanuel bs. Am J Med Genet. 1992 Mar 1;42(5):700-5. doi: 10.1002/ajmg.1320420515. Am J Med Genet. 1992. PMID: 1632442

9

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.

Weiss BJ, Kamholz J, Ritter A, Zackai EH, McDonald-McGinn DM, Emanuel B, Fischbeck KH. Weiss BJ, et al. Ann Neurol. 1991 Sep;30(3):419-23. doi: 10.1002/ana.410300316. Ann Neurol. 1991. PMID: 1719916

10

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: emanuel bs. Am J Med Genet. 1991 Jul 1;40(1):77-9. doi: 10.1002/ajmg.1320400115. Am J Med Genet. 1991. PMID: 1887853 Review.

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