Emanuel BS - Search Results

1

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium. Herman SB, et al. Among authors: emanuel bs. Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3. Am J Med Genet A. 2012. PMID: 23034814 Free PMC article.

2

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

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

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.

5

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

6

Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.

Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH. Robins DB, et al. Among authors: emanuel bs. Am J Med Genet. 1989 Mar;32(3):390-4. doi: 10.1002/ajmg.1320320325. Am J Med Genet. 1989. PMID: 2658590 Review.

7

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.

Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS. Donnenfeld AE, et al. Among authors: emanuel bs. Am J Med Genet. 1989 Apr;32(4):461-7. doi: 10.1002/ajmg.1320320405. Am J Med Genet. 1989. PMID: 2773986

8

Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.

Münke M, Emanuel BS, Zackai EH. Münke M, et al. Among authors: emanuel bs. Am J Med Genet. 1988 Aug;30(4):929-38. doi: 10.1002/ajmg.1320300409. Am J Med Genet. 1988. PMID: 3055987 Review.

9

Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families.

Gorski JL, Kistenmacher ML, Punnett HH, Zackai EH, Emanuel BS. Gorski JL, et al. Among authors: emanuel bs. Am J Med Genet. 1988 Feb;29(2):247-61. doi: 10.1002/ajmg.1320290202. Am J Med Genet. 1988. PMID: 3354596

10

Deletion of 2p: a cytogenetic and clinical update.

Neidich J, Zackai E, Aronson M, Emanuel BS. Neidich J, et al. Among authors: emanuel bs. Am J Med Genet. 1987 Jul;27(3):707-10. doi: 10.1002/ajmg.1320270326. Am J Med Genet. 1987. PMID: 3477100

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