Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Agnieszka Szpecht-Potocka"'
Autor:
Michał Milewski, Jolanta Czekajska, Sylwia Rzonca, Aleksandra Landowska, Tadeusz Mazurczak, Anna Abramowicz, D Maciejko, Jerzy Bal, Monika Gos, Ewa Obersztyn, Daniel Szopa, Danuta Sielska-Rotblum, Agnieszka Szpecht-Potocka
Publikováno v:
Genes; Volume 7; Issue 9; Pages: 59
Genes, Vol 7, Iss 9, p 59 (2016)
Genes
Genes, Vol 7, Iss 9, p 59 (2016)
Genes
The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders. This includes fragile X syndrome (FXS), fragile X-assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a19f66e0ee00090db5a1c41907366f
Publikováno v:
Journal of Applied Genetics. 49:297-300
Point mutation and loss of heterozygosity (LOH) analyses were performed in 12 Polish patients with a classic symptom of NF2 — bilateral vestibular schwannomas (BVS). In 5 patients (41.7%), germline mutations were found in theNF2 gene: 2 previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6c94ba88f7fa43f9eecae36e5744913
https://doi.org/10.1007/bf03195626
https://doi.org/10.1007/bf03195626
Autor:
Katarzyna E. Kolodziejska, Ewa Bocian, Tadeusz Mazurczak, Pawel Stankiewicz, Tyler Reimschisel, Magdalena Bartnik, Gary Bellus, Iwona Terczyńska, Hanna Mierzewska, Sau Wai Cheung, Agnieszka Szpecht-Potocka, Naomi J. Lohr, Ping Fang, Monika Gos, Katarzyna Derwińska, Ayelet Erez, Ewa Obersztyn
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 13(5)
Purpose: Mutations in the CDKL5 gene have been associated with an X-linked dominant early infantile epileptic encephalopathy-2. The clinical presentation is usually of severe encephalopathy with refractory seizures and Rett syndrome (RTT)-like phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae23598790ad7b66d028e923a587a637
https://pubmed.ncbi.nlm.nih.gov/21293276
https://pubmed.ncbi.nlm.nih.gov/21293276
Publikováno v:
Medycyna wieku rozwojowego. 13(2)
Angelman Syndrome (AS) is a neurogenetic disorder associated with aberrant genomic imprinting. AS patients with an imprinting defect have only paternal genes expression pattern despite the normal bi-parental inheritance of chromosome 15. In 2-3% of A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5f1e93bc0cee075a0865b8507545b9a
https://pubmed.ncbi.nlm.nih.gov/19837991
https://pubmed.ncbi.nlm.nih.gov/19837991
Autor:
Jakub, Klapecki, Ewa, Obersztyn, Mikołaj, Łaniewski-Wołłk, Agnieszka, Szpecht-Potocka, Tadeusz, Mazurczak
Publikováno v:
Wiadomosci lekarskie (Warsaw, Poland : 1960). 61(1-3)
Noonan syndrome (NS) belongs to one of the most frequent genetic disorders with autosomal dominant pattern of inheritance. The main symptoms of NS are short stature, congenital heart defects, thorax deformities and specific dysmorphic features: hyper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ed87f43e2f876460b53f3e2237428e4
https://pubmed.ncbi.nlm.nih.gov/18717048
https://pubmed.ncbi.nlm.nih.gov/18717048
Autor:
Jakub, Klapecki, Ewa, Obersztyn, Mikolaj, Laniewski-Wollk, Agnieszka, Szpecht-Potocka, Tadeusz, Mazurczak
Publikováno v:
Medycyna wieku rozwojowego. 10(1 Pt 2)
Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder. With incidence of 1/1000 to 1/2500 live births, NS belongs to the most common genetic disorders. Typical features of NS are: short stature, chest deformities, congenital heart defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2c95c1eb311338c2f7ee2a273533be5b
https://pubmed.ncbi.nlm.nih.gov/17028394
https://pubmed.ncbi.nlm.nih.gov/17028394
Publikováno v:
Journal of applied genetics. 45(3)
Neural tube defects (NTDs) are a common cause of disability or death of new-borns, but the aetiology and genetic background of this disease are still poorly understood. Therefore, it was decided to determine the conditions for the identification of s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::044cb59dfcc312ba0b7e290582ff220e
https://pubmed.ncbi.nlm.nih.gov/15306729
https://pubmed.ncbi.nlm.nih.gov/15306729
Publikováno v:
Medycyna wieku rozwojowego. 6(4)
Neural tube defects (NTDs) are a group of diseases caused by a failure of closure of the neural tube. Its aetiology contains both environmental and genetic factors. NTDs have a polygenic background. Genes, which are linked with NTDs occurrence, are b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eb33fa7a92e566d14eeb498370bf4712
https://pubmed.ncbi.nlm.nih.gov/12810987
https://pubmed.ncbi.nlm.nih.gov/12810987
Publikováno v:
Medycyna wieku rozwojowego. 6(4)
Neural tube defects (NTDs) have a polygenic background. There are numerous genes known to be high-risk genetic factors for NTDs. Ones of them are mutations of foliate metabolisms pathways genes. This paper shows the results of analysis of common muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ac444f68c89d27b7b76a965d31ea6c7
https://pubmed.ncbi.nlm.nih.gov/12810988
https://pubmed.ncbi.nlm.nih.gov/12810988
Publikováno v:
Journal of applied genetics. 43(4)
Effective supplementation with folate, which prevents neural tube defect (NTD) occurrence, and high homocysteine levels in the blood of NTD children's mothers suggest that genes involved in folate and homocysteine metabolism can be involved in NTD ae
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4b5db3b1ae98d8918bc79a9678dfcf99
https://pubmed.ncbi.nlm.nih.gov/12441636
https://pubmed.ncbi.nlm.nih.gov/12441636