Emanuel BS - Search Results

1

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.

Grand K, Levitt Katz LE, Crowley TB, Moss E, Lessig M, Bamba V, Lord K, Zackai EH, Emanuel BS, Valverde K, McDonald-McGinn DM. Grand K, et al. Among authors: emanuel bs. Am J Med Genet A. 2018 Oct;176(10):2167-2171. doi: 10.1002/ajmg.a.40535. Am J Med Genet A. 2018. PMID: 30380188 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

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.

6

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.

7

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

8

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

9

Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma.

Stambolian D, Sellinger B, Derrington D, Sargent R, Emanuel BS. Stambolian D, et al. Among authors: emanuel bs. Am J Med Genet. 1992 Apr 1;42(6):771-6. doi: 10.1002/ajmg.1320420604. Am J Med Genet. 1992. PMID: 1554012

10

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

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