Wyniki wyszukiwania

1

Zasady diagnostyki molekularnej w chorobie Pelizaeusa-Merzbachera

100%

Hoffman-Zacharska D.

Diagnostyka Laboratoryjna

|

2013

|

tom 49

|

nr 3

2

Myszy swietego Wita

100%

Hoffman-Zacharska D.

Wiedza i Życie

|

2000

|

nr 08

54-56

3

Ataksja Friedreicha - zastosowanie różnych metod opartych na technice PCR w diagnostyce molekularnej ekspansji powtórzeń [GAA]n

63%

Hoffman-Zacharska D., Mazurczak T.

Diagnostyka Laboratoryjna

|

2008

|

tom 44

|

nr 4

4

Characterization of the CAG repeats expansion in families with molecularly confirmed Spinocerebellar ataxia type 1

51%

Hoffman-Zacharska D., Milewska D., Szirkowiec W., Zaremba J.

Acta Neurobiologiae Experimentalis

|

1999

|

tom 59

|

nr 3

5

Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance

51%

Duszyc K., Terczynska I., Hoffman-Zacharska D.

Journal of Applied Genetics

|

2015

|

tom 56

|

nr 1

6

The isolated case of Huntington's disease - confirmed de novo mutation in the IT15 gene

51%

Hoffman-Zacharska D., Koziol P., Kuran W., Zaremba J.

Acta Neurobiologiae Experimentalis

|

1999

|

tom 59

|

nr 3

7

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group

45%

Sulek A., Hoffman-Zacharska D., Bednarska-Makaruk M., Szirkowiec W., Zaremba J.

Journal of Applied Genetics

|

2004

|

tom 45

|

nr 1

8

Wytwarzanie glukoamylazy przez skonstruowane metodami inzynierii genetycznej transformanty Aspergillus w warunkach hodowli w podlozach cieklych i stalych

39%

Ryszka L., Czakaj J., Sawicka-Zujowska R., Stepien P. P., Weglenski P., Jedrychowska B., Hoffman-Zacharska D.

Prace Instytutów i Laboratoriów Badawczych Przemysłu Spożywczego

|

2002

|

tom 57

7-26

9

Genomic instability in the PARK2 locus is associated with Parkinson’s disease

39%

Ambroziak W., Koziorowski D., Gorka-Skoczylas P., Potulska-Chromik P., Slawek J., Hoffman-Zacharska D.

Journal of Applied Genetics

|

2015

|

tom 56

|

nr 4

10

The influence of genetic modifying factors on the age of onset in patients with spinocerebellar ataxia type 1 and 2 (SCA1 and SCA2)

39%

Sulek A., Hoffman-Zacharska D., Bednarksa-Makaruk M., Zdzienicka E., Szirkowiec W., Zaremba J.

Acta Biochimica Polonica

|

2003

|

tom 50

|

nr Supplement 1

11

Dynamic mutations as a molecular basis of Huntington disease (HD)

39%

Sulek A., Krysa W., Hoffman-Zacharska D., Zdzienicka W., Fidzianska E., Zaremba J.

Acta Biochimica Polonica

|

2003

|

tom 50

|

nr Supplement 1

12

CAG repeat polymorphism in the androgen receptor [AR] gene of SBMA patients and a control group

39%

Sulek A., Hoffman-Zacharska D., Krysa W., Szirkowiec W., Fidzianska E., Zaremba J.

Journal of Applied Genetics

|

2005

|

tom 46

|

nr 2

Spinobulbar muscular atrophy (SBMA) is an X-linked form of motor neuron disease characterized by progressive atrophy of the muscles, dysphagia, dysarthria and mild androgen insensitivity. SBMA is caused by CAG repeat expansion in the androgen receptor gene. CAG repeat polymorphism was analysed in a Polish control group (n = 150) and patients suspected of SBMA (n = 60). Normal and abnormal ranges of CAG repeats were established in the control group and in 21 patients whose clinical diagnosis of SBMA was molecularly confirmed. The ranges are similar to those reported for other populations.

13

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

33%

Hoffman-Zacharska D., Mazurczak T., Zajkowski T., Tataj R., Gorka-Skoczylas P., Polatynska K., Kepczynski L., Stasiolek M., Bal J.

Journal of Applied Genetics

|

2016

|

tom 57

|

nr 3

14

Multimodal evoked potentials in huntington's disease patients

27%

Rakowicz M., Zdzienicka E., Kuran W., Niedzielska K., Waliniowska E., Hoffman-Zacharska D., Poniatowska R., Habib N., Mierzewska H., Kulczycki J., Zaremba J., Rzeski M., Wieclawska M.

Acta Neurobiologiae Experimentalis

|

1999

|

tom 59

|

nr 3

Ograniczanie wyników

Zasady diagnostyki molekularnej w chorobie Pelizaeusa-Merzbachera

Myszy swietego Wita

Ataksja Friedreicha - zastosowanie różnych metod opartych na technice PCR w diagnostyce molekularnej ekspansji powtórzeń [GAA]n

Characterization of the CAG repeats expansion in families with molecularly confirmed Spinocerebellar ataxia type 1

Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance

The isolated case of Huntington's disease - confirmed de novo mutation in the IT15 gene

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group

Wytwarzanie glukoamylazy przez skonstruowane metodami inzynierii genetycznej transformanty Aspergillus w warunkach hodowli w podlozach cieklych i stalych

Genomic instability in the PARK2 locus is associated with Parkinson’s disease

The influence of genetic modifying factors on the age of onset in patients with spinocerebellar ataxia type 1 and 2 (SCA1 and SCA2)

Dynamic mutations as a molecular basis of Huntington disease (HD)

CAG repeat polymorphism in the androgen receptor [AR] gene of SBMA patients and a control group

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

Multimodal evoked potentials in huntington's disease patients