Emanuel BS - Search Results

1

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).

Sullivan KE, McDonald-McGinn DM, Driscoll DA, Zmijewski CM, Ellabban AS, Reed L, Emanuel BS, Zackai EH, Athreya BH, Keenan G. Sullivan KE, et al. Among authors: emanuel bs. Arthritis Rheum. 1997 Mar;40(3):430-6. doi: 10.1002/art.1780400307. Arthritis Rheum. 1997. PMID: 9082929

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 culture with a derivative chromosome 10 from a paternal (10;16) translocation. Repository identification no. GM-1396.

Emanuel B, Zackai EH, Mellman WJ, Aronson MM, Greene AE, Coriell LL. Emanuel B, et al. Cytogenet Cell Genet. 1977;19(4):240. doi: 10.1159/000130815. Cytogenet Cell Genet. 1977. PMID: 598254 No abstract available.

6

Deletion of the short arm of chromosome 2 from a subject with congenital anomalies. Repository identification no. GM-1138.

Zackai E, Emanuel B, Mellman WJ, Aronson MM, Bozarth B, Greene AE, Coriell LL. Zackai E, et al. Cytogenet Cell Genet. 1977;18(2):108. doi: 10.1159/000130755. Cytogenet Cell Genet. 1977. PMID: 862431 No abstract available.

7

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.

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: 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

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: 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

10

Antenatal diagnosis of DiGeorge syndrome.

Driscoll DA, Budarf ML, Emanuel BS. Driscoll DA, et al. Among authors: emanuel bs. Lancet. 1991 Nov 30;338(8779):1390-1. doi: 10.1016/0140-6736(91)92264-3. Lancet. 1991. PMID: 1682750 No abstract available.

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