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Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism

100%

Simioni M., Lopes F. E., Paiva V. T., Lopes-Cendes I., Gil-da-Silva-Lopes V. L.

Journal of Applied Genetics

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2010

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tom 51

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nr 2

219-221

Midline facial defects with hypertelorism (MFDH) are mainly characterized by ocular hypertelorism and bifid nose. They are often associated with structural and functional anomalies of the central nervous system similar to those found in 22q11.2 deletion syndromes. In addition, there are some isolated reports of MFDH and 22q11.2 deletion. These findings suggest that MFDH may be part of the spectrum of 22q11.2 deletion syndromes. To test this hypothesis, 10 individuals with MFDH were analyzed by fluorescent in situ hybridization (FISH), but no 22q11.2 deletion was detected. In view of this result, the TBX1 gene located within the 22q11.2 candidate region was screened. A new sequence variant (1132GA) was identified in one patient. This variant was not found in 110 control individuals genotyped. Considering the rarity of this condition and results of this study, the involvement of the 22q11.2 chromosomal region in the pathogenesis of MFDH could not be excluded.

2

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

100%

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

Journal of Applied Genetics

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1998

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tom 39

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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.

3

Molecular genetic diagnosis of the 1.5 Mb deletion causing hereditary neuropathy with liability to pressure palsies [HNPP] in a Polish family

100%

Kochanski A. M., Lofgren A., Timmerman V., Jedrzejowska H., Fidzianska A., Latos-Bielenska A., Van Broeckhoven C., Hausmanowa-Petrusewicz I.

Journal of Applied Genetics

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1999

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tom 40

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nr 3

4

Ultrastructural study of human seminiferous epithelium in cases of patients with DAZ gene deletion

100%

Butowska W., Filipiak K., Jankowska A., Stecewicz D., Warchol J. B.

Acta Biologica Cracoviensia. Series Botanica. Supplement

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2000

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tom 42

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nr 1

5

Carrier-state of D allele in ACE gene insertion deletion polymorphism is associated with coronary artery disease, in contrast to the C677-T transition in the MTHFR gene

100%

Zak I., Niemiec P., Sarecka B., Balcerzyk A., Ciemniewski Z., Rudowska E., Dylag S.

Acta Biochimica Polonica

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2003

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tom 50

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nr 2

Angiotensin I-converting enzyme (ACE), which plays an important role in blood pressure regulation, and methylenetetrahydrofolate reductase (MTHFR) involved in homocysteine metabolism belong to a large group of polypeptides which may be potential risk factors for atherosclerosis and coronary artery disease (CAD). To assess whether polymorphisms of the genes encoding these peptides are associated with CAD in Silesian we conducted a study among 68 individuals suffering from CAD (including 52 cases after myocardial infarction), 51 subjects with positive family history of CAD and 111 controls. We analysed the distribution of genotypes and allele frequencies of the insertion/deletion (I/D) polymorphism in the ACE gene using PCR amplification, and the C677^T polymorphism in the MTHFR gene using PCR-RFLP analysis. We found that D allele frequency was significantly higher in CAD patients (61%) than in controls (43%) (P = 0.001, OR = 2.06). The D allele carriers (DD + ID genotypes) were more frequent in the CAD patients (85%) compared to control group (65%) (P = 0.003, OR = 3.14), whereas the familial CAD risk group shows the highest frequency of the ID genotype (57% vs 43% in controls). In contrast, the MTHFR polymorphism does not seem to be associated with the disease. Our data indicate that in Silesian CAD patients the disease is strongly associated with carrier-state of the ACE D allele, but not with the C677->T transition in the MTHFR gene.

6

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

100%

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

Journal of Applied Genetics

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1997

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tom 38

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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.

7

The effect of insertion/deletion polymorphisms within the promoter and intron 1 sequences of the PRNP gene on the breeding value of Holstein-Friesian bulls

84%

Czarnik U., Strychalski J., Olenski K., Barcewicz M., Hering D. M., Puckowska P., Pierzchala M., Urbanski P., Pareek C. S.

Animal Science Papers and Reports

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2015

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tom 33

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nr 1

The aim of this study was to verify the hypothesis that insertion/deletion (indel) polymorphisms within the promoter and intron 1 sequences of the prion protein (PRNP) gene can affect the breeding value of Holstein-Friesian bulls. The experimental material included 261 Holstein-Friesian bulls born between 1997 – 2002. It was shown that the polymorphism in the intron 1 (12 bp indel) sequence had a more significant effect on the analyzed traits than a polymorphism in the promotor (23 bp indel) sequence. A deletion allele within intron 1 (12del) significantly increased the bulls’ breeding value for milk yield (p=0.001), protein yield (p=0.042), type and conformation (p=0.018),udder width (p=0.003), dairy character (p=0.004), and decreased days open (p=0.022). A deletion allele (23del) at the polymorphic locus of the promoter significantly decreased the bulls’ breeding value for milk yield (p=0.001), udder width (p=0.029) and dairy character (p=0.033). Analysis of both alleles showed that 23del-12del haplotype increased the bulls’ breeding value for udder traits:udder (p=0.008), fore udder (p=0.043) and udder depth (p=0.041), and decreased for fat kontent (p=0.047) and conformation traits - body depth (p<0.001), chest width (p=0.029) and rear leg set - side view (p=0.029). Also positive effect of 23del-12ins haplotype for days open (p=0.003) and days between calving and first insemination (p=0.045) was observed.

8

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

84%

Bogdanowicz J., Pawlowska B., Ilnicka A., Gawlik-Zawislak S., Jozwiak A., Sobiczewska B., Zdzienicka E., Korniszewski L., Zaremba J.

Journal of Applied Genetics

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2010

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tom 51

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nr 2

215-217

Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rearrangements were detected by FISH: 2 subtelomeric 1p36 deletions, an unbalanced translocation involving chromosomes 1 and 12 with 1p36 deletion, and a de novo balanced translocation involving chromosomes 19 and 22. Thus, 3 cases of 1p36 subtelomeric deletion were found (3.95%). To confirm subtelomeric rearrangements in 2 patients, comparative genomic hybridization (CGH) was applied. Moreover, 3 cases of polymorphism without phenotypic effects were found: in 2 patients, the polymorphism involved the long arm of chromosome 2 (maternal derivative in both patients), while in the third patient, a polymorphism of the long arm of chromosome 7 was diagnosed. The latter polymorphism was also found in the patient's mother and grandfather.

9

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

84%

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

Journal of Applied Genetics

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2000

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tom 41

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nr 4

10

Velocardiofacial syndrome [VCFS]: an important syndrome to recognize, caused by a microdeletion of chromosome 22q11

84%

Devriendt K., Swillen A., Frints S. G. M., Fryns J. P.

Journal of Applied Genetics

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1997

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tom 38

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nr 1

The phenotypic heterogeneity of the velocardiofacial syndrome (VCFS) or Shprintzen syndrome caused by a chromosomal 22q11 deletion will be discussed. The acronym ’CATCH22’ (Cardiac defects - Abnormal facies - Thymic hypoplasia - Cleft palate - Hypocalcaemia) has been suggested to indicate the associated phenotype. The variable clinical phenotype was previously recognized as DiGcorge syndrome and Shprintzen syndrome, but both are caused by a microdeletion of chromosome 22q11. However, most patients show only partial expression with mild clinical features. Through a sensitive genetic investigation called FISH (Fluorescence in situ hybridization) a diagnostic test of VCFS has become routinely possible, leading to an increased number of patients that are diagnosed. Early diagnosis is very important to recognize associated problems, to initiate adequate treatment and to provide necessary genetic counselling.

11

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

84%

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

Journal of Applied Genetics

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2001

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tom 42

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nr 1

12

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease

67%

Jedrzejowska M., Milewski M., Zimowski J., Borkowska J., Kostera-Pruszczyk A., Sielska D., Jurek M., Hausmanowa-Petrusewicz I.

Acta Biochimica Polonica

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2009

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tom 56

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nr 1

103-108

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. It is characterized by significant phenotype variability. In this study, we analyzed possible phenotype modifiers of the disease the size of the deletion in the SMA region, the number of SMN2 gene copies, as well as the effect of gender. Among the factors analyzed, two seem to influence the SMA phenotype: the number of SMN2 gene copies and a deletion in the NAIP gene. A higher number of SMN2 copies makes the clinical symptoms more benign, and the NAIP gene deletion is associated with a more severe phenotype. The influence of gender remains unclear. In a group of 1039 patients, 55% of whom were male, the greatest disproportion was in the SMA1 (F/M=0.78) and SMA3b (F/M=0.45) forms. In SMA1 a deletion in the NAIP gene was seen twice as frequently in girls compared to boys. In three patients, we observed genotypes atypical for the chronic forms of SMA: two patients with SMA3a and 3b had a deletion of the NAIP gene, and a third patient with SMA2 had one copy of the SMN2 gene.

13

Mechanisms regulating the development and function of natural regulatory T cells

59%

Gupta S., Shang W., Sun Z.

Archivum Immunologiae et Therapiae Experimentalis

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2008

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tom 56

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nr 2

Ograniczanie wyników

Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism

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

Molecular genetic diagnosis of the 1.5 Mb deletion causing hereditary neuropathy with liability to pressure palsies [HNPP] in a Polish family

Ultrastructural study of human seminiferous epithelium in cases of patients with DAZ gene deletion

Carrier-state of D allele in ACE gene insertion deletion polymorphism is associated with coronary artery disease, in contrast to the C677-T transition in the MTHFR gene

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

The effect of insertion/deletion polymorphisms within the promoter and intron 1 sequences of the PRNP gene on the breeding value of Holstein-Friesian bulls

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

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

Velocardiofacial syndrome [VCFS]: an important syndrome to recognize, caused by a microdeletion of chromosome 22q11

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

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease

Mechanisms regulating the development and function of natural regulatory T cells