Zackai E - Search Results

1

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB. Zarate YA, et al. Among authors: zackai e. Clin Genet. 2017 Oct;92(4):423-429. doi: 10.1111/cge.12982. Epub 2017 Mar 7. Clin Genet. 2017. PMID: 28139846

2

Holt-Oram syndrome associated with the hypoplastic left heart syndrome.

Glauser TA, Zackai E, Weinberg P, Clancy R. Glauser TA, et al. Among authors: zackai e. Clin Genet. 1989 Jul;36(1):69-72. doi: 10.1111/j.1399-0004.1989.tb03369.x. Clin Genet. 1989. PMID: 2766565

3

X-linked recessive aqueductal stenosis without macrocephaly.

Kelley RI, Mennuti MT, Hickey WF, Zackai EH. Kelley RI, et al. Among authors: zackai eh. Clin Genet. 1988 May;33(5):390-4. doi: 10.1111/j.1399-0004.1988.tb03467.x. Clin Genet. 1988. PMID: 3378368

4

De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1).

Robin NH, Magnusson M, McDonald-McGinn D, Zackai EH, Spinner NB. Robin NH, et al. Among authors: zackai eh. Clin Genet. 1993 Dec;44(6):335-7. doi: 10.1111/j.1399-0004.1993.tb03911.x. Clin Genet. 1993. PMID: 8131307

5

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Among authors: zackai eh. Genet Med. 2001 Jan-Feb;3(1):23-9. doi: 10.1097/00125817-200101000-00006. Genet Med. 2001. PMID: 11339373 Free article.

6

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH. Ming JE, et al. Among authors: zackai eh. Am J Med Genet A. 2003 Dec 15;123A(3):249-52. doi: 10.1002/ajmg.a.20277. Am J Med Genet A. 2003. PMID: 14608645 Review.

7

Autosomal dominant inheritance of infantile myofibromatosis.

Zand DJ, Huff D, Everman D, Russell K, Saitta S, McDonald-McGinn D, Zackai EH. Zand DJ, et al. Am J Med Genet A. 2004 Apr 30;126A(3):261-6. doi: 10.1002/ajmg.a.20598. Am J Med Genet A. 2004. PMID: 15054839 Review.

8

Symptomatic Chiari I malformation in Kabuki syndrome.

Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE. Ciprero KL, et al. Among authors: zackai eh. Am J Med Genet A. 2005 Jan 30;132A(3):273-5. doi: 10.1002/ajmg.a.30387. Am J Med Genet A. 2005. PMID: 15523623

9

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.

Hoffman JD, Zhang Y, Greshock J, Ciprero KL, Emanuel BS, Zackai EH, Weber BL, Ming JE. Hoffman JD, et al. Among authors: zackai eh. J Med Genet. 2005 Jan;42(1):49-53. doi: 10.1136/jmg.2004.024372. J Med Genet. 2005. PMID: 15635075 Free PMC article.

10

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Among authors: zackai e. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370

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