Emanuel BS - Search Results

1

DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.

Wilson TA, Blethen SL, Vallone A, Alenick DS, Nolan P, Katz A, Amorillo TP, Goldmuntz E, Emanuel BS, Driscoll DA. Wilson TA, et al. Among authors: emanuel bs. Am J Med Genet. 1993 Nov 15;47(7):1078-82. doi: 10.1002/ajmg.1320470729. Am J Med Genet. 1993. PMID: 8291527

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

Antenatal diagnosis of DiGeorge syndrome.

Driscoll DA, Budarf ML, Emanuel BS. Driscoll DA, et al. Among authors: emanuel bs. Lancet. 1991 Nov 30;338(8779):1390-1. doi: 10.1016/0140-6736(91)92264-3. Lancet. 1991. PMID: 1682750 No abstract available.

4

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.

5

Molecular cytogenetics: toward dissection of the contiguous gene syndromes.

Emanuel BS. Emanuel BS. Am J Hum Genet. 1988 Nov;43(5):575-8. Am J Hum Genet. 1988. PMID: 3189328 Free PMC article. No abstract available.

6

Cerebellar atrophy in a patient with velocardiofacial syndrome.

Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. Lynch DR, et al. Among authors: emanuel bs. J Med Genet. 1995 Jul;32(7):561-3. doi: 10.1136/jmg.32.7.561. J Med Genet. 1995. PMID: 7562973 Free PMC article.

7

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.

Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, Michaud D, Driscoll DA, Emanuel BS. Budarf ML, et al. Among authors: emanuel bs. Nat Genet. 1995 Jul;10(3):269-78. doi: 10.1038/ng0795-269. Nat Genet. 1995. PMID: 7670464

8

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.

Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J. Nickel RE, et al. Among authors: emanuel bs. Am J Med Genet. 1994 Oct 1;52(4):445-9. doi: 10.1002/ajmg.1320520410. Am J Med Genet. 1994. PMID: 7747757

9

Classical Noonan syndrome is not associated with deletions of 22q11.

Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA. Robin NH, et al. Among authors: emanuel bs. Am J Med Genet. 1995 Mar 13;56(1):94-6. doi: 10.1002/ajmg.1320560121. Am J Med Genet. 1995. PMID: 7747795

10

"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?

Lipson A, Emanuel B, Colley P, Fagan K, Driscoll DA. Lipson A, et al. J Med Genet. 1994 Sep;31(9):741. doi: 10.1136/jmg.31.9.741. J Med Genet. 1994. PMID: 7815448 Free PMC article. No abstract available.

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