Výsledky vyhledávání

Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X

Autor: Alina T. Midro, Alicja Rybałko, Ewa Kostyk, Bogustawa Krzykwa, Kyra Michalova, Ruta Ušinskiené, Beata Stasiewicz-Jarocka, Barbara Pienkowska-Grela, Barbara Panasiuk, Vaidutis Kučinskas

Publikováno v: Annales de Génétique. 47:11-28

A central concept in genetic counselling is the estimation of the probability of occurrence of unbalanced progeny at birth and other unfavourable outcomes of pregnancy (miscarriages, stillbirths and early death). The estimation of the occurrence prob

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba8f060355d84d2237d0186907d159b1
https://doi.org/10.1016/j.anngen.2004.01.001

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[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]

Autor: Katarzyna, Borg, Ewa, Bocian, Joanna, Bernaciak, Beata, Nowakowska, Katarzyna, Derwińska, Ewa, Obersztyn, Krzysztof, Szczałuba, Robert, Smigiel, Ewa, Kostyk, Tadeusz, Mazurczak

Publikováno v: Medycyna wieku rozwojowego. 13(2)

In approximately 6% of balanced chromosomal rearrangements carriers, intellectual disability, dysmorphic features and congenital anomalies can be found. The abnormal phenotype might be the result of genomic imbalance or aberrant expression caused by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::232677a745e8968aa1056a7a4247b247
https://pubmed.ncbi.nlm.nih.gov/19837989

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Unaffected patients with a homozygous absence of the SMN1 gene

Autor: Walenty M. Nyka, Maria Jędrzejowska, Janusz Zimowski, Michał Milewski, Jacek Zaremba, Janina Borkowska, Ewa Kostyk, Marta Jurek, Danuta Sielska, Irena Hausmanowa-Petrusewicz, Anna Kostera-Pruszczyk

Publikováno v: European journal of human genetics : EJHG. 16(8)

In this report, we present three families in which we identified asymptomatic carriers of a homozygous absence of the SMN1 gene. In the first family, the bialleleic deletion was found in three of four siblings: two affected brothers (SMA type 3a and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37544091b8752fd73991b894e55729d9
https://pubmed.ncbi.nlm.nih.gov/18337729

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Use of sensor-augmented insulin pump in patient with diabetes and cystic fibrosis: evidence for improvement in metabolic control

Autor: Ewa Kostyk, Maciej T. Malecki, Tomasz Klupa, Barbara Katra, Jacek Sieradzki, Katarzyna Cyganek, Jacek J Pietrzyk, Jan Skupien

Publikováno v: Diabetes technologytherapeutics. 10(1)

Cystic fibrosis-related diabetes (CFRD) is a frequent complication of cystic fibrosis. We report the significant improvement of diabetes control and quality of life in a CFRD patient using the sensor-augmented insulin pump. The system gives the patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc382a30442e8f3f432a42159e81ae7
https://pubmed.ncbi.nlm.nih.gov/18275362

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[Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations]

Autor: Ewa, Bocian, Beata, Nowakowska, Ewa, Obersztyn, Katarzyna, Borg, Ilse, Chudoba, Ewa, Kostyk, Anna, Kruczek, Jacek, Pietrzyk, Tadeusz, Mazurczak

Publikováno v: Medycyna wieku rozwojowego. 10(1 Pt 2)

Until recently, great variety of marker chromosomes and difficulties with their identification have presented a problem for cytogenetic and clinical interpretation of the karyotype. At present, molecular cytogenetic methods of chromosome analysis ena

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1aab3cef733766d47c041abe80a8f1e7
https://pubmed.ncbi.nlm.nih.gov/17028390

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[Epilepsy in three children with Wolf-Hirschhorn syndrome]

Autor: Marek, Kaciński, Ewa, Kostyk, Anna, Kruczek, Barbara, Skowronek-Bała

Publikováno v: Przeglad lekarski. 62(11)

Wolf-Hirschhorn syndrome (4p detetion) belongs to the group of disorders caused by chromosomal aberrations, associated with frequent occurrence of epilepsy. To illustrate phenotype - genotype association, the study presents 3 children with this syndr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::47329c7e5655f020a403f8adc5736a96
https://pubmed.ncbi.nlm.nih.gov/16512625

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Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation

Autor: Ewa, Bocian, Zofia, Hélias-Rodzewicz, Kamila, Suchenek, Ewa, Obersztyn, Anna, Kutkowska-Kaźmierczak, Paweł, Stankiewicz, Ewa, Kostyk, Tadeusz, Mazurczak

Publikováno v: Medical science monitor : international medical journal of experimental and clinical research. 10(4)

The etiology of mental retardation (MR) is unexplained in at least 50% of cases. Recently it was shown that subtle telomeric rearrangements may be a common cause of idiopathic mental retardation (IMR).We studied 84 families with IMR and unspecific cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3248d0984c4fc515a332c025ef6dbc53
https://pubmed.ncbi.nlm.nih.gov/15039644

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