Emanuel BS - Search Results

1

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Among authors: emanuel bs. Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. Am J Hum Genet. 2018. PMID: 30193139 Free PMC article. No abstract available.

2

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

3

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

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

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.

7

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

8

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

9

Complex chromosomal rearrangement and multiple spontaneous abortions.

Gorski JL, Emanuel BS, Zackai EH, Mennuti M. Gorski JL, et al. Among authors: emanuel bs. Hum Genet. 1986 Nov;74(3):326. doi: 10.1007/BF00282560. Hum Genet. 1986. PMID: 3781562

10

Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.

Emanuel BS, Zackai EH, Tucker SH. Emanuel BS, et al. J Med Genet. 1983 Dec;20(6):461-3. doi: 10.1136/jmg.20.6.461. J Med Genet. 1983. PMID: 6655672 Free PMC article.

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