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A Jeziorowska

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Articles 12
Citations 255
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Recent Articles
1.
Jeziorowska A, Pniewska-Siark B, Brzezianska E, Pastuszak-Lewandoska D, Lewinski A
Thyroid . 2007 Jan; 16(12):1303-9. PMID: 17199441
Congenital hypothyroidism (CH) occurs approximately with a frequency of 1 in 3000-4000 births, being a disease caused by defects in thyroid hormone synthesis associated either with goiter presence or with...
2.
Rosser Z, Zerjal T, Hurles M, Adojaan M, Alavantic D, Amorim A, et al.
Am J Hum Genet . 2000 Nov; 67(6):1526-43. PMID: 11078479
Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies...
3.
Jakubowski L, Jeziorowska A, Constantinou M, Helszer Z, Baumstark A, Vogel W, et al.
J Med Genet . 2000 Oct; 37(10):E28. PMID: 11015460
No abstract available.
4.
Jakubowski L, Jeziorowska A, Constantinou M, Kaluzewski B
Clin Genet . 2000 Jun; 57(4):291-5. PMID: 10845570
We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ...
5.
Brown W, Houck Jr G, Jeziorowska A, Levinson F, Ding X, Dobkin C, et al.
JAMA . 1993 Oct; 270(13):1569-75. PMID: 8371467
Objective: To develop a rapid, nonradioactive test using the polymerase chain reaction (PCR) capable of detecting full fragile X mutations, premutations, and resolving normal alleles and to apply this to...
6.
Jeziorowska A, Ciesla W, Houck Jr G, Yao X, Harris M, Truszczak B, et al.
Am J Med Genet . 1993 Apr; 46(1):83-7. PMID: 7684191
We report on a 3-year-old boy with moderate developmental retardation, microcephaly, and malformations of ears, lids, mouth, and thumbs. Cytogenetic analysis demonstrated a direct duplication of chromosome subregion 4(q21.3-->q31.3). Confirmation...
7.
Jeziorowska A, Houck Jr G, Yao X, Wisniewski K, Jenkins E, Wisniewski H
Clin Genet . 1992 Sep; 42(3):124-8. PMID: 1395083
We present a case previously described by Jenkins et al. (1983) as atypical Down syndrome (DS). The initial diagnosis was first made on the basis of phenotypic and cytogenetic data....
8.
Ciesla W, Jakubowski L, Jeziorowska A, Kaluzewski B
Ginekol Pol . 1989 Jul; 60(7-9):387-98. PMID: 2484659
Cytological and biochemical investigations were carried out on 60 samples of amniotic fluid obtained from 30 pregnant women with risk for development of fetal central nervous abnormality (FCNA) and 30...
9.
Jeziorowska A, Jakubowski L, Lach J, Kaluzewski B
Clin Genet . 1988 Jan; 33(1):11-9. PMID: 2963717
The Cu-Zn superoxide dismutase (SOD1) activity was estimated in red blood cells in children with regular trisomy 21. We report patients displaying typical Down syndrome clinical features and with SOD1...
10.
Jeziorowska A, Jakubowski L, Armatys A, Kaluzewski B
Clin Chim Acta . 1984 Nov; 143(3):315-20. PMID: 6499226
No abstract available.