Zackai EH - Search Results

1

Molecular analysis of congenital scoliosis: a candidate gene approach.

Maisenbacher MK, Han JS, O'brien ML, Tracy MR, Erol B, Schaffer AA, Dormans JP, Zackai EH, Kusumi K. Maisenbacher MK, et al. Among authors: zackai eh. Hum Genet. 2005 Apr;116(5):416-9. doi: 10.1007/s00439-005-1253-8. Epub 2005 Feb 17. Hum Genet. 2005. PMID: 15717203

2

Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male.

Münke M, Page DC, Brown LG, Armson BA, Zackai EH, Mennuti MT, Emanuel BS. Münke M, et al. Among authors: zackai eh. Hum Genet. 1988 Nov;80(3):219-23. doi: 10.1007/BF01790089. Hum Genet. 1988. PMID: 3192211

3

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Pellegrino JE, Schnur RE, Kline R, Zackai EH, Spinner NB. Pellegrino JE, et al. Among authors: zackai eh. Hum Genet. 1995 Oct;96(4):485-9. doi: 10.1007/BF00191813. Hum Genet. 1995. PMID: 7557977

4

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

Budarf ML, Konkle BA, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zackai EH, Driscoll DA. Budarf ML, et al. Among authors: zackai eh. Hum Mol Genet. 1995 Apr;4(4):763-6. doi: 10.1093/hmg/4.4.763. Hum Mol Genet. 1995. PMID: 7633430 No abstract available.

5

A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM, Siegel-Bartelt J, Gasser DL, Bailey LC, Zackai EH, Muenke M. Feldman GJ, et al. Among authors: zackai eh. Am J Hum Genet. 1995 Apr;56(4):938-43. Am J Hum Genet. 1995. PMID: 7717404 Free PMC article.

6

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, et al. Schell U, et al. Among authors: zackai eh. Hum Mol Genet. 1995 Mar;4(3):323-8. doi: 10.1093/hmg/4.3.323. Hum Mol Genet. 1995. PMID: 7795583

7

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS. Goldmuntz E, et al. Among authors: zackai eh. J Med Genet. 1993 Oct;30(10):807-12. doi: 10.1136/jmg.30.10.807. J Med Genet. 1993. PMID: 7901419 Free PMC article.

8

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

Cheng SD, Spinner NB, Zackai EH, Knoll JH. Cheng SD, et al. Among authors: zackai eh. Am J Hum Genet. 1994 Oct;55(4):753-9. Am J Hum Genet. 1994. PMID: 7942854 Free PMC article.

9

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

Boghosian-Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, Davis-Keppen L, Hudgins L, Overhauser J. Boghosian-Sell L, et al. Among authors: zackai eh. Am J Hum Genet. 1994 Sep;55(3):476-83. Am J Hum Genet. 1994. PMID: 8079991 Free PMC article.

10

Human malformations similar to those in the mouse mutation disorganization (Ds).

Robin NH, Adewale OO, McDonald-McGinn D, Nadeau JH, Zackai EH, Bućan M. Robin NH, et al. Among authors: zackai eh. Hum Genet. 1993 Nov;92(5):461-4. doi: 10.1007/BF00216451. Hum Genet. 1993. PMID: 8244336

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