Emanuel BS - Search Results

1

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

2

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.

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: 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

4

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

5

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

6

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.

7

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: emanuel bs. Am J Med Genet. 1991 May 1;39(2):167-9. doi: 10.1002/ajmg.1320390210. Am J Med Genet. 1991. PMID: 2063919

8

Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization.

Donnenfeld AE, Graham JM Jr, Packer RJ, Aquino R, Berg SZ, Emanuel BS. Donnenfeld AE, et al. Among authors: emanuel bs. Am J Med Genet. 1990 Oct;37(2):182-6. doi: 10.1002/ajmg.1320370205. Am J Med Genet. 1990. PMID: 2248284

9

Molecular studies of DiGeorge syndrome.

Fibison WJ, Budarf M, McDermid H, Greenberg F, Emanuel BS. Fibison WJ, et al. Among authors: emanuel bs. Am J Hum Genet. 1990 May;46(5):888-95. Am J Hum Genet. 1990. PMID: 2339689 Free PMC article.

10

A chromosomal breakage syndrome with profound immunodeficiency.

Conley ME, Spinner NB, Emanuel BS, Nowell PC, Nichols WW. Conley ME, et al. Among authors: emanuel bs. Blood. 1986 May;67(5):1251-6. Blood. 1986. PMID: 2421804 Free article.

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