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

Autor Zackai, E H, Stolle, C A
Vydáno 1998

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

Autor Emanuel, B S, Zackai, E H, Tucker, S H
Vydáno 1983

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

Autor Mulivor, R A, Mennuti, M, Zackai, E H, Harris, H
Vydáno 1978

Osteoglophonic dwarfism in two generations.

Autor Kelley, R I, Borns, P F, Nichols, D, Zackai, E H
Vydáno 1983

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

Autor Cheng, S. D., Spinner, N. B., Zackai, E. H., Knoll, J. H.
Vydáno 1994

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.

Autor Emanuel, B S, Zackai, E H, Aronson, M M, Mellman, W J, Moorhead, P S
Vydáno 1976

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

Autor Donnenfeld, A E, Zackai, E H, McDonald, D M, Aquino, R, Emanuel, B S
Vydáno 1987

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

Autor Saitta, S C, McGrath, J M, Mensch, H, Shaikh, T H, Zackai, E H, Emanuel, B S
Vydáno 1999

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

Autor Overhauser, J, Mitchell, H F, Zackai, E H, Tick, D B, Rojas, K, Muenke, M
Vydáno 1995

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

Autor Ahmad, N N, McDonald-McGinn, D M, Dixon, P, Zackai, E H, Tasman, W S
Vydáno 1996

Paternal transmission of congenital myotonic dystrophy.

Autor Bergoffen, J, Kant, J, Sladky, J, McDonald-McGinn, D, Zackai, E H, Fischbeck, K H
Vydáno 1994

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

Autor Simon, T.J., Takarae, Y., DeBoer, T., McDonald-McGinn, Zackai, E.H., Ross, J.L.
Vydáno 2007

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

Autor Goldmuntz, E, Driscoll, D, Budarf, M L, Zackai, E H, McDonald-McGinn, D M, Biegel, J A, Emanuel, B S
Vydáno 1993

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

Autor Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S
Vydáno 1993

Constitutional 1p36 deletion in a child with neuroblastoma.

Autor Biegel, J A, White, P S, Marshall, H N, Fujimori, M, Zackai, E H, Scher, C D, Brodeur, G M, Emanuel, B S
Vydáno 1993

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

Autor Boghosian-Sell, L., Mewar, R., Harrison, W., Shapiro, R. M., Zackai, E. H., Carey, J., Davis-Keppen, L., Hudgins, L., Overhauser, J.
Vydáno 1994

Cerebellar atrophy in a patient with velocardiofacial syndrome.

Autor Lynch, D R, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Driscoll, D A, Whitaker, L A, Fischbeck, K H
Vydáno 1995

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

Autor Spinner, N B, Eunpu, D L, Schmickel, R D, Zackai, E H, McEldrew, D, Bunin, G R, McDermid, H, Emanuel, B S
Vydáno 1989

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

Autor Ahmad, N N, McDonald-McGinn, D M, Zackai, E H, Knowlton, R G, LaRossa, D, DiMascio, J, Prockop, D J
Vydáno 1993

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

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