A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.

著者: Zackai, E H, Stolle, C A
出版事項 1998

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

著者: Emanuel, B S, Zackai, E H, Tucker, S H
出版事項 1983

Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies.

著者: Mulivor, R A, Mennuti, M, Zackai, E H, Harris, H
出版事項 1978

Osteoglophonic dwarfism in two generations.

著者: Kelley, R I, Borns, P F, Nichols, D, Zackai, E H
出版事項 1983

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

著者: Cheng, S. D., Spinner, N. B., Zackai, E. H., Knoll, J. H.
出版事項 1994

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.

著者: Emanuel, B S, Zackai, E H, Aronson, M M, Mellman, W J, Moorhead, P S
出版事項 1976

De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.

著者: Donnenfeld, A E, Zackai, E H, McDonald, D M, Aquino, R, Emanuel, B S
出版事項 1987

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

著者: Saitta, S C, McGrath, J M, Mensch, H, Shaikh, T H, Zackai, E H, Emanuel, B S
出版事項 1999

Physical mapping of the holoprosencephaly critical region in 18p11.3.

著者: Overhauser, J, Mitchell, H F, Zackai, E H, Tick, D B, Rojas, K, Muenke, M
出版事項 1995

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

著者: Ahmad, N N, McDonald-McGinn, D M, Dixon, P, Zackai, E H, Tasman, W S
出版事項 1996

Paternal transmission of congenital myotonic dystrophy.

著者: Bergoffen, J, Kant, J, Sladky, J, McDonald-McGinn, D, Zackai, E H, Fischbeck, K H
出版事項 1994

Overlapping Numerical Cognition Impairments In Children With Chromosome 22q11.2 Deletion Or Turner Syndromes

著者: Simon, T.J., Takarae, Y., DeBoer, T., McDonald-McGinn, Zackai, E.H., Ross, J.L.
出版事項 2007

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

著者: Goldmuntz, E, Driscoll, D, Budarf, M L, Zackai, E H, McDonald-McGinn, D M, Biegel, J A, Emanuel, B S
出版事項 1993

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

著者: Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S
出版事項 1993

Constitutional 1p36 deletion in a child with neuroblastoma.

著者: Biegel, J A, White, P S, Marshall, H N, Fujimori, M, Zackai, E H, Scher, C D, Brodeur, G M, Emanuel, B S
出版事項 1993

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

著者: Boghosian-Sell, L., Mewar, R., Harrison, W., Shapiro, R. M., Zackai, E. H., Carey, J., Davis-Keppen, L., Hudgins, L., Overhauser, J.
出版事項 1994

Cerebellar atrophy in a patient with velocardiofacial syndrome.

著者: Lynch, D R, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Driscoll, D A, Whitaker, L A, Fischbeck, K H
出版事項 1995

The role of cytologic NOR variants in the etiology of trisomy 21.

著者: Spinner, N B, Eunpu, D L, Schmickel, R D, Zackai, E H, McEldrew, D, Bunin, G R, McDermid, H, Emanuel, B S
出版事項 1989

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

著者: Ahmad, N N, McDonald-McGinn, D M, Zackai, E H, Knowlton, R G, LaRossa, D, DiMascio, J, Prockop, D J
出版事項 1993

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review

著者: Verheij, E., Elden, L., Crowley, T.B., Pameijer, F.A., Zackai, E.H., McDonald-McGinn, D.M., Thomeer, H.G.X.M.
出版年 AJNR Am J Neuroradiol (2018)