Emanuel BS - Search Results

1

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.

Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT. Wenger TL, et al. Among authors: emanuel bs. Mol Autism. 2016 May 6;7:27. doi: 10.1186/s13229-016-0090-z. eCollection 2016. Mol Autism. 2016. PMID: 27158440 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

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

A (14;20) translocation, unbalanced, from a subject with severe congenital anomalies. Respository identification No. GM-981.

Emanuel BS, Zackai E, Mellman WJ, Aronson MM, Greene AE, Coriell LL. Emanuel BS, et al. Cytogenet Cell Genet. 1978;21(3):173. doi: 10.1159/000130891. Cytogenet Cell Genet. 1978. PMID: 657847 No abstract available.

7

A (14;20) balanced translocation, 46, XX. Repository identification No. GM-982.

Emanuel BS, Zackai E, Mellman WJ, Aronson MM, Greene AE, Coriell LL. Emanuel BS, et al. Cytogenet Cell Genet. 1978;21(3):174. doi: 10.1159/000130892. Cytogenet Cell Genet. 1978. PMID: 657848 No abstract available.

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

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.

Weiss BJ, Kamholz J, Ritter A, Zackai EH, McDonald-McGinn DM, Emanuel B, Fischbeck KH. Weiss BJ, et al. Ann Neurol. 1991 Sep;30(3):419-23. doi: 10.1002/ana.410300316. Ann Neurol. 1991. PMID: 1719916

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