Wyniki wyszukiwania

1

Molekularne podloze Zespolu Huntera

100%

Popowska E.

Kosmos

|

1994

|

tom 43

|

nr 3-4

445-458

2

Über die Möglichkeit der Verwendung des Sulfatablaugen-Lignins als Bindemittel bei der Herstellung von Holzwerkstoffen

100%

Popowska E.

Annals of Warsaw Agricultural University. Forestry and Wood Technology

|

1988

|

tom 38

3

Guaiaccum sanctum L.

63%

Matejak M., Popowska E.

Annals of Warsaw Agricultural University. Forestry and Wood Technology

|

2002

|

tom 52

4

Artykuł dostępny w postaci pełnego tekstu - kliknij by otworzyć plik

Właściwości kompleksu 99mTc-Fitynianu - badania in vitro i in vivo

63%

Popowska E., Baltrukiewicz Z.

Roczniki Państwowego Zakładu Higieny

|

1984

|

tom 35

|

nr 2

5

The N4-hydroxycytidine reduction system in toluenized cells of Salmonella typhimurium

63%

Popowska E., Janion C.

Acta Biochimica Polonica

|

1977

|

tom 24

|

nr 3

6

Nowoczesne zabezpieczenia drewna w budownictwie

63%

Popowska E., Bernatowicz G.

Przemysł Drzewny

|

1998

|

tom 49

|

nr 03

5-12

7

Zum Trocknungsprozess von Holzfasern

63%

Popowska E., Meyer B.

Annals of Warsaw Agricultural University. Forestry and Wood Technology

|

1987

|

tom 35

8

Uber die Verwertung des Sulfatablaugen - Lignins als Bindemittel

51%

Popowska E., Kuhe G., Pecina H.

Annals of Warsaw Agricultural University. Forestry and Wood Technology

|

1991

|

tom 41

9

Quellung von Teerölimpregniertem Holz

51%

Kaminski A., Matejak M., Popowska E.

Annals of Warsaw Agricultural University. Forestry and Wood Technology

|

1988

|

tom 38

10

Patogeneza zespolu Coffina i Lowry'ego

51%

Jurkiewicz D., Popowska E., Krajewska-Walasek M.

Postępy Biologii Komórki

|

2008

|

tom 35

|

nr 3

303-313

11

Molekularne podloze zespolu Alagille'a.

51%

Jurkiewicz D., Popowska E., Krajewska-Walasek M.

Postępy Biologii Komórki

|

2003

|

tom 30

|

nr 3

419-432

12

Molekularne mechanizmy powstania zespolu Retta

51%

Jurkiewicz D., Popowska E., Tylki-Szymanska A., Krajewska-Walasek M.

Postępy Biologii Komórki

|

2006

|

tom 33

|

nr 2

183-196

13

Zespol Smitha, Lemlego i Opitza w badaniach klinicznych, biochemicznych i molekularnych.

51%

Ciara E., Popowska E., Krajewska-Walasek M.

Postępy Biologii Komórki

|

2003

|

tom 30

|

nr 2

293-310

14

Ornithine transcarbamylase gene mutations and genotype-phenotype correlation in Polish patients with hyperammonemia type 2

51%

Popowska E., Ciara E., Rokicki D., Pronicka E.

Journal of Applied Genetics

|

1999

|

tom 40

|

nr 1

15

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene

39%

Popowska E., Pronicka E., Sulek A., Jurkiewicz D., Rowe P., Rowinska E., Krajewska-Walasek M.

Journal of Applied Genetics

|

2000

|

tom 41

|

nr 4

16

SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome

39%

Piekutowska-Abramczuk D., Popowska E., Pronicka E., Karczmarewicz E., Pronicki M., Kmiec T., Krajewska-Walasek M.

Journal of Applied Genetics

|

2001

|

tom 42

|

nr 1

17

X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation

33%

Popowska E., Pronicka E., Sulek A., Jurkiewicz D., Rowinska E., Sykut-Cegielska J., Rump Z., Arasimowicz E., Krajewska-Walasek M.

Journal of Applied Genetics

|

2001

|

tom 42

|

nr 1

18

Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

33%

Popowska E., Sulek A., Kubalska J., Pronicka E., Jezewska M., Trembacz H., Goryluk-Kozakiewicz B., Krajewska-Walasek M.

Journal of Applied Genetics

|

1998

|

tom 39

|

nr 1

Five families with the Lesch-Nyhan syndrome (LNS) and two families with the Kelley-Seegmiller syndrome (KSS) were studied. Seven different mutations were identified. Two transitions, C526→ T (Prol76Ser) and G481→A (Ala161Thr), in patients with a milder form of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) deficiency were detected. In patients with the Lesch-Nyhan syndrome two transitions, G569→A (Glyl90Glu) and C508→T (Arg170Ter), two transversions, C222→A (Phe74Leu) and C482→A (Ala161Glu), and a deletion of seven nucleotides (from A394 to G400) were observed. All except two of the identified mutations are novel. The C222→A substitution in exon III is located within one of the clusters of hot spots of the HPRT gene and has been previously described in four unrelated patients. The other recurrent mutation C508→T in exon VII has been reported in eight families.

19

A clinical, cytogenetic and molecular study in Prader-Willi patients

33%

Krajewska-Walasek M., Popowska E., Gutkowska A., Bielinska B., Chrzanowska K., Rump Z., Mospinek-Krasnopolska M., Rysiewski H.

Journal of Applied Genetics

|

1997

|

tom 38

|

nr 2

Twenty-three patients with a putative diagnosis of Prader-Willi syndrome (PWS) were reassessed clinically and then examined by cytogenetic and molecular techniques. Nineteen patients fulfilled the diagnostic criteria for PWS and the remaining four were judged to have atypical PWS. Definite molecular defects were detected in all clinically typical PWS patients but one. A deletion of part of chromosome 15q could be identified molecularly in 14 patients (74%) and maternal disomy for chromosome 15 in four (21%). In all, except one, PWS patients with molecularly detected deletions, the deletion was also identified by cytogenetic studies. Cytogenetic deletions were suspected in two of the atypical PWS patients. However, based on the results of scoring the diagnostic criteria for PWS and on the PW71B methylation test, we were able to rule out PWS in all of our atypical patients. Our study confirms observations that both clinical and cytogenetic investigations can provide misdiagnoses of PWS in some patients, and the first, simple and fast investigation, which can confirm the PWS in most, if not all PWS patients, is molecular analysis by the methylation test.

20

Pseudohipertriglicerydemia w deficycie kinazy glicerolowej spowodowana wysokim stężeniem wolnego glicerolu

27%

Adamowicz M., Casselius E., Hellerud C., Taybert J., Jurkiewicz D., Szaplyko J., Kubalska J., Gradowska W., Popowska E., Lindstedt S., Pronicka E.

Diagnostyka Laboratoryjna

|

2002

|

tom 38

|

nr 2

Ograniczanie wyników

Molekularne podloze Zespolu Huntera

Über die Möglichkeit der Verwendung des Sulfatablaugen-Lignins als Bindemittel bei der Herstellung von Holzwerkstoffen

Guaiaccum sanctum L.

Właściwości kompleksu 99mTc-Fitynianu - badania in vitro i in vivo

The N4-hydroxycytidine reduction system in toluenized cells of Salmonella typhimurium

Nowoczesne zabezpieczenia drewna w budownictwie

Zum Trocknungsprozess von Holzfasern

Uber die Verwertung des Sulfatablaugen - Lignins als Bindemittel

Quellung von Teerölimpregniertem Holz

Patogeneza zespolu Coffina i Lowry'ego

Molekularne podloze zespolu Alagille'a.

Molekularne mechanizmy powstania zespolu Retta

Zespol Smitha, Lemlego i Opitza w badaniach klinicznych, biochemicznych i molekularnych.

Ornithine transcarbamylase gene mutations and genotype-phenotype correlation in Polish patients with hyperammonemia type 2

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene

SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome

X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation

Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

A clinical, cytogenetic and molecular study in Prader-Willi patients

Pseudohipertriglicerydemia w deficycie kinazy glicerolowej spowodowana wysokim stężeniem wolnego glicerolu