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Tadeusz Mazurczak

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Barbara Wiśniowiecka-Kowalnik; Ewa Ziemka; Maciej Sykulski; Krzysztof Szczałuba; Dorota Szumbarska; Magdalena Bartnik; Ewa Bocian; Katarzyna Derwińska; Wanda Dymczak-Domini; Anna Gambin; Tomasz Gambin; Monika Kastory-Bronowska; Tadeusz Mazurczak; Ewa Obersztyn; Chad A Shaw; Pawel Stankiewicz
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Agnieszka Sobczyńska-Tomaszewska; Jarosław Walkowiak; Katarzyna Wertheim-Tysarowska; Jerzy Bal; Kamila Czerska; Tadeusz Mazurczak; Mariusz Ołtarzewski; Dorota Sands
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
Magdalena Bartnik; Ewa Bocian; Katarzyna Derwińska; Anna Gambin; Tomasz Gambin; Monika Gos; Alicja Goszczańska-Ciuchta; Dorota Hoffman-Zacharska; Anetta Jeziorek; Marta Kędzior; Tomasz Mazurczak; Tadeusz Mazurczak; Hanna Mazurkiewicz; Hanna Mierzewska; Ewa Obersztyn; Mariola Rudzka-Dybała; Chad A Shaw; Małgorzata Sobierajewicz; Maciej Sykulski; Elżbieta Szczepanik; Iwona Terczyńska; Barbara Wiśniowiecka-Kowalnik; Zofia Zalewska-Miszkurka; Kamila Ziemkiewicz; Dorota Antczak-Marach; Pawel Stankiewicz
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

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All Publications

2013: Barbara Wiśniowiecka-Kowalnik; Ewa Ziemka; Maciej Sykulski; Krzysztof Szczałuba; Dorota Szumbarska; Magdalena Bartnik; Ewa Bocian; Katarzyna Derwińska; Wanda Dymczak-Domini; Anna Gambin; Tomasz Gambin; Monika Kastory-Bronowska; Tadeusz Mazurczak; Ewa Obersztyn; Chad A Shaw; Pawel Stankiewicz
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
European journal of human genetics : EJHG 2013;21(6):620-5.
2013: Agnieszka Sobczyńska-Tomaszewska; Jarosław Walkowiak; Katarzyna Wertheim-Tysarowska; Jerzy Bal; Kamila Czerska; Tadeusz Mazurczak; Mariusz Ołtarzewski; Dorota Sands
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
European journal of human genetics : EJHG 2013;21(4):391-6.
2012: Magdalena Bartnik; Ewa Bocian; Katarzyna Derwińska; Anna Gambin; Tomasz Gambin; Monika Gos; Alicja Goszczańska-Ciuchta; Dorota Hoffman-Zacharska; Anetta Jeziorek; Marta Kędzior; Tomasz Mazurczak; Tadeusz Mazurczak; Hanna Mazurkiewicz; Hanna Mierzewska; Ewa Obersztyn; Mariola Rudzka-Dybała; Chad A Shaw; Małgorzata Sobierajewicz; Maciej Sykulski; Elżbieta Szczepanik; Iwona Terczyńska; Barbara Wiśniowiecka-Kowalnik; Zofia Zalewska-Miszkurka; Kamila Ziemkiewicz; Dorota Antczak-Marach; Pawel Stankiewicz
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012;159B(7):760-71.
2012: Katarzyna Derwińska; Anna Gambin; Tomasz Gambin; Mateusz Jagła; Wanda Kawalec; Anna Kutkowska-Kaźmierczak; Tadeusz Mazurczak; Ewa Obersztyn; Jacek J Pietrzyk; Andrzej Rudziński; Chad A Shaw; Magdalena Bartnik; Ewa Bocian; Maciej Sykulski; Barbara Wiśniowiecka-Kowalnik; Lidia Ziółkowska; Pawel Stankiewicz
Assessment of the role of copy-number variants in 150 patients with congenital heart defects.
Medycyna wieku rozwojowego 2012;16(3):175-82.
2011: Krzysztof Szczałuba; Joanna Bernaciak; Christopher Fisher; Richard Gibbons; Tadeusz Mazurczak; Beata Nowakowska; Ewa Obersztyn; Ewa Bocian
[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
Medycyna wieku rozwojowego 2011;15(4):437-44.
2011: Magdalena Bartnik; Katarzyna Derwińska; Monika Gos; Ewa Obersztyn; Katarzyna E Kołodziejska; Ayelet Erez; Agnieszka Szpecht-Potocka; Ping Fang; Iwona Terczyńska; Hanna Mierzewska; Naomi J Lohr; Gary A Bellus; Tyler Reimschisel; Ewa Bocian; Tadeusz Mazurczak; Sau Wai Cheung; Pawel Stankiewicz
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(5):447-52.
2010: Melissa B Ramocki; Magdalena Bartnik; Przemyslaw Szafranski; Katarzyna E Kołodziejska; Zhilian Xia; Jaclyn Bravo; G Steve Miller; Diana L Rodriguez; Charles A Williams; Patricia I Bader; Elżbieta Szczepanik; Tadeusz Mazurczak; Dorota Antczak-Marach; James G Coldwell; Cigdem I Akman; Karen McAlmon; Melinda P Cohen; James McGrath; Elizabeth Roeder; Jennifer Mueller; Sung-Hae L Kang; Carlos A Bacino; Ankita Patel; Ewa Bocian; Chad A Shaw; Sau Wai Cheung; Tadeusz Mazurczak; Paweł Stankiewicz
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
American journal of human genetics 2010;87(6):857-65.
2010: Krzysztof Szczaluba; K Szymanska; Monika Bekiesinska-Figatowska; E Jurkiewicz; J Madzik; Ewa Obersztyn; Tadeusz Mazurczak
Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration.
Neurology 2010;74(22):1835.
2009: Krzysztof Szczałuba; Marta Jurek; Elzbieta Szczepanik; Andrzej Friedman; Michał Milewski; Jerzy Bal; Tadeusz Mazurczak
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.
Pediatric neurology 2009;41(2):135-8.
2009: Tadeusz Mazurczak
[Importance of studies about the etiopathogenesis of childhood diseases for clinical practice. Introduction].
Medycyna wieku rozwojowego 2009;13(2):79-80.
2009: Magdalena Nawara; Marta Jurek; Jerzy Bal; Tadeusz Mazurczak
[Gene mapping in 14 families with X-linked nonspecific mental retardation].
Medycyna wieku rozwojowego 2009;13(2):94-113.
2009: Katarzyna Borg; Ewa Bocian; Joanna Bernaciak; Beata Nowakowska; Katarzyna Derwińska; Ewa Obersztyn; Krzysztof Szczałuba; Robert Smigiel; Ewa Kostyk; Tadeusz Mazurczak
[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods].
Medycyna wieku rozwojowego 2009;13(2):81-93.
2008: Magdalena Nawara; Jakub Klapecki; Katarzyna Borg; Marta Jurek; Sarah Moreno; Jolanta Tryfon; Jerzy Bal; Jamel Chelly; Tadeusz Mazurczak
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
American journal of medical genetics. Part A 2008;146A(24):3167-72.
2008: Beata Nowakowska; Pawel Stankiewicz; Ewa Obersztyn; Zhishuo Ou; J Li; A C Chinault; Marta Smyk; Katarzyna Borg; Tadeusz Mazurczak; Sau Wai Cheung; Ewa Bocian
Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.
American journal of medical genetics. Part A 2008;146A(18):2361-9.
2008: Marta Smyk; Ewa Obersztyn; Beata Nowakowska; Magdalena Nawara; Sau Wai Cheung; Tadeusz Mazurczak; Pawel Stankiewicz; Ewa Bocian
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(6):799-806.
2008: Anna Kutkowska-Kaźmierczak; Ewa Obersztyn; Jean-Paul Bonnefont; Danuta Rosińska-Borkowska; Tadeusz Mazurczak; Agnieszka Sobczyńska-Tomaszewska; Tadeusz Mazurczak
[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases].
Medycyna wieku rozwojowego 2008;12(3):748-53.
2008: Jakub Klapecki; Ewa Obersztyn; Mikołaj Łaniewski-Wołłk; Agnieszka Szpecht-Potocka; Tadeusz Mazurczak
[Variability in clinical expression of Noonan syndrome--the report of two familial cases].
Wiadomości lekarskie (Warsaw, Poland : 1960) 2008;61(1-3):74-81.
2007: Katarzyna Borg; Beata Nowakowska; Ewa Obersztyn; Sau Wai Cheung; Joanna Brycz-Witkowska; Lech Korniszewski; Tadeusz Mazurczak; Pawel Stankiewicz; Ewa Bocian
Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.
American journal of medical genetics. Part A 2007;143A(22):2738-43.
2007: Krzysztof Szczaluba; M Jurek; M Milewski; A Friedman; B Kadziolka; A Szolna; Jerzy Bal; Tadeusz Mazurczak
Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2007;14(6):659-62.
2007: Marta Smyk; Ewa Obersztyn; Beata Nowakowska; Ewa Bocian; Sau Wai Cheung; Tadeusz Mazurczak; Pawel Stankiewicz
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.
American journal of medical genetics. Part A 2007;143A(8):866-70.
2007: Krzysztof Szczałuba; Ewa Obersztyn; Kamila Ziemkiewicz; Aleksander Jamsheer; Ewa Bocian; Tadeusz Mazurczak
[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].
Medycyna wieku rozwojowego 2007;11(1):57-64.
2007: Joanna Pietrzak; Kristin Mrasek; Ewa Obersztyn; Pawel Stankiewicz; Nadezda Kosyakova; Anja Weise; Sau Wai Cheung; Wei-Wen Cai; Ferdinand von Eggeling; Tadeusz Mazurczak; Ewa Bocian; Thomas Liehr
Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.
Journal of applied genetics 2007;48(2):167-75.
2006: Krzysztof Szczaluba; Magdalena Nawara; K Poirier; Jacek Pilch; M Gajdulewicz; K Spodar; J Chelly; Jerzy Bal; Tadeusz Mazurczak
Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.
Neurology 2006;67(11):2073-5.
2006: Agnieszka Sobczyńska-Tomaszewska; Daniel Bak; Beata Oralewska; Grzegorz Oracz; Aleksandra Norek; Kamila Czerska; Tadeusz Mazurczak; Mikolaj Teisseyre; Jerzy Socha; Marek Zagulski; Jerzy Bal
Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis.
Journal of pediatric gastroenterology and nutrition 2006;43(3):299-306.
2006: Magdalena Nawara; Krzysztof Szczaluba; Karine Poirier; Krystyna Chrzanowska; Jacek Pilch; Jerzy Bal; Jamel Chelly; Tadeusz Mazurczak
The ARX mutations: a frequent cause of X-linked mental retardation.
American journal of medical genetics. Part A 2006;140(7):727-32.
2006: Agnieszka Sobczyńska-Tomaszewska; Daniel Bak; Jan Karol Wolski; Leszek Bablok; Magdalena Nawara; Tadeusz Mazurczak; Jerzy Bal
Molecular analysis of defects in the CFTR gene and AZF locus of the Y chromosome in male infertility.
The Journal of reproductive medicine 2006;51(2):120-7.
2006: Anna Migdalska; Magdalena Nawara; Jerzy Bal; Tadeusz Mazurczak
[Attention deficit hyperactivity disorder (ADHD)--molecular and genetic aspects].
Medycyna wieku rozwojowego 2006;10(1 Pt 2):343-54.
2006: Krzysztof Szczaluba; Tadeusz Mazurczak
[Primary torsion dystonia--clinical and molecular aspects].
Medycyna wieku rozwojowego 2006;10(1 Pt 2):309-22.
2006: Jakub Klapecki; Ewa Obersztyn; Mikolaj Laniewski-Wollk; Agnieszka Szpecht-Potocka; Tadeusz Mazurczak
[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].
Medycyna wieku rozwojowego 2006;10(1 Pt 2):289-308.
2006: Katarzyna Borg; Ewa Bocian; Pawel Stankiewicz; Ewa Obersztyn; Anna Kruczek; Beata Nowakowska; Alicja Ilnicka; Tadeusz Mazurczak
[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].
Medycyna wieku rozwojowego 2006;10(1 Pt 2):227-46.
2006: Ewa Bocian; Beata Nowakowska; Ewa Obersztyn; Katarzyna Borg; Ilse Chudoba; Ewa Kostyk; Anna Kruczek; Jacek J Pietrzyk; Tadeusz Mazurczak
[Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations].
Medycyna wieku rozwojowego 2006;10(1 Pt 2):211-25.
2006: Ewa Obersztyn; Jakub Klapecki; Zofia Helias-Rodzewicz; Ewa Bocian; Tadeusz Mazurczak
[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].
Medycyna wieku rozwojowego 2006;10(1 Pt 2):199-209.
2005: Krzysztof Szczaluba; Katja Hilbert; Ewa Obersztyn; Bernhard Zabel; Tadeusz Mazurczak; Kazimierz Kozlowski
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.
American journal of medical genetics. Part A 2005;138(4):379-83.
2005: Katarzyna Borg; Pawel Stankiewicz; Ewa Bocian; Anna Kruczek; Ewa Obersztyn; James R Lupski; Tadeusz Mazurczak
Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
Human genetics 2005;118(2):267-75.
2005: Krzysztof Szczałuba; Ewa Obersztyn; Kazimierz Kozłowski; Roberto Ravazzolo; Bozena Gołabek; Tadeusz Mazurczak
[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].
Medycyna wieku rozwojowego 2005;9(2):195-203.
2005: Maria Jedrzejowska; Wojciech Wiszniewski; Janusz Zimowski; Anna Kostera-Pruszczyk; Barbara Ryniewicz; Jerzy Bal; Jacek Zaremba; Tadeusz Mazurczak; Irena Hausmanowa-Petrusewicz
Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).
Neurologia i neurochirurgia polska 2005;39(2):89-94.
2005: Ewa Bocian; Kamila Suchenek; Ewa Obersztyn; Beata Nowakowska; Tadeusz Mazurczak
Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).
Journal of applied genetics 2005;46(1):109-14.
2004: Anna Kutkowska-Kaźmierczak; Ewa Obersztyn; Zofia Helias-Rodzewicz; Ewa Bocian; Tadeusz Mazurczak
[Subtelomeric aberration as a cause of severe somatic and psychomotor retardation in a child with dysmorphic features and CNS defects].
Medycyna wieku rozwojowego 2004;8(4 Pt 1):949-62.
2004: Jerzy Bal; Agnieszka Sobczyńska-Tomaszewska; Kamila Czerska; Ewa Obersztyn; Dorota Sands; Tadeusz Mazurczak
[Prenatal diagnosis of cystic fibrosis in risk families in Poland--results of molecular analysis].
Medycyna wieku rozwojowego 2004;8(4 Pt 1):871-83.
2004: Maria Jedrzejowska; Janusz Zimowski; Wojciech Wiszniewski; Danuta Sielska; Jerzy Bal; Tadeusz Mazurczak; Irena Hausmanowa-Petrusewicz; Jacek Zaremba
[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].
Medycyna wieku rozwojowego 2004;8(3 Pt 2):651-61.
2004: Ewa Bocian; Zofia Hélias-Rodzewicz; Kamila Suchenek; Ewa Obersztyn; Anna Kutkowska-Kaźmierczak; Pawel Stankiewicz; Ewa Kostyk; Tadeusz Mazurczak
Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.
Medical science monitor : international medical journal of experimental and clinical research 2004;10(4):CR143-51.
2003: Ewa Obersztyn; Tadeusz Mazurczak; Zofia Helias-Rodzewicz; Ewa Bocian; Anna Kutkowska-Kazmierczak
[Case of subtelomeric aberration as a cause of familial intellectual disability with congenital defects and dysmorphic features--problems of diagnosis and genetic counseling].
Medycyna wieku rozwojowego 2003;7(3):389-401.
2002: Magdalena Nawara; Jerzy Bal; Tadeusz Mazurczak
[Monogenic causes of nonspecific X-linked mental retardation molecular aspects].
Medycyna wieku rozwojowego 2002;6(4):281-94.
2002: Zofia Hélias-Rodzewicz; Ewa Bocian; Pawel Stankiewicz; Ewa Obersztyn; Ewa Kostyk; K Jakubów-Durska; A Kutkowska-Kaźmierczak; Tadeusz Mazurczak
Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies.
Journal of medical genetics 2002;39(9):e53.
2001: Pawel Stankiewicz; Izabela Brozek; Zofia Hélias-Rodzewicz; Jolanta Wierzba; Jacek Pilch; Ewa Bocian; Anna Balcerska; Agnieszka Wozniak; I Kardaś; Jutta Wirth; Tadeusz Mazurczak; Janusz Limon
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
American journal of medical genetics 2001;101(3):226-39.
2001: Ewa Bocian; K Jakubów-Durska; Tadeusz Mazurczak
[Results of 1043 prenatal cytogenetic studies: retrospective study in the context of applicability of interphase FISH in prenatal diagnosis]].
Ginekologia polska 2001;72(6):449-55.
2001: Pawel Stankiewicz; Zofia Hélias-Rodzewicz; K Jakubów-Durska; Ewa Bocian; Ewa Obersztyn; G A Rappold; Tadeusz Mazurczak
Cytogenetic and molecular characterization of two isodicentric Y chromosomes.
American journal of medical genetics 2001;101(1):20-5.
2000: Pawel Stankiewicz; Ewa Bocian; K Jakubów-Durska; Ewa Obersztyn; E Lato; H Starke; K Mroczek; Tadeusz Mazurczak
Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.
Journal of medical genetics 2000;37(2):114-20.
1999: Cezary Zekanowski; Maria Nowacka; Barbara Cabalska; E Sendecka; M Słowik; Maria Gizewska; Joanna Filipowicz; Tadeusz Mazurczak; Jerzy Bal
[Mutations causing hereditary hyperphenylalaninemia].
Medycyna wieku rozwojowego 1999;3(1):55-66.
1997: Pawel Stankiewicz; Ewa Kostyk; Ewa Bocian; H Stańczak; J Parczewska; E Piatkowska; Tadeusz Mazurczak; Jacek J Pietrzyk
Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.
Journal of medical genetics 1997;34(8):696-9.
1996: Tadeusz Mazurczak; Ewa Bocian; M Milewski; Ewa Obersztyn; H Stańczak; Jerzy Bal; K Szamotulska; M W Karwacki
Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland.
American journal of medical genetics 1996;64(1):184-6.
1996: Ewa Obersztyn; Pawel Stankiewicz; Ewa Bocian; H Stańczak; Tadeusz Mazurczak
[Partial trisomy of chromosome 13--diagnosis confirmed with the FISH in situ hybridization technique].
Pediatria polska 1996;71(3):247-52.
1996: Ewa Bocian; H Stańczak; A Wiśniewski; Tadeusz Mazurczak; Pawel Stankiewicz
[Use of molecular cytogenetic techniques for establishing the origin of chromosome markers in patients with Turner phenotype].
Pediatria polska 1996;71(3):203-9.
1996: M Milewski; Jerzy Bal; Tadeusz Mazurczak
[Inter-generational transmission of mutations responsible for fragile X syndrome].
Pediatria polska 1996;71(3):191-6.
1996: Tadeusz Mazurczak
[Clinical genetics problems in pediatric practice].
Pediatria polska 1996;71(3):183-90.
1996: A Szpecht-Potocka; Ewa Obersztyn; M Karwacki; Ewa Bocian; Jerzy Bal; Tadeusz Mazurczak
Molecular and clinical studies of Polish patients with Prader-Willi syndrome.
Acta geneticae medicae et gemellologiae 1996;45(1-2):273-6.
1996: M Milewski; M Zygulska; Jerzy Bal; Wout Deelen; Ewa Obersztyn; Ewa Bocian; D J J Halley; J Horst; Tadeusz Mazurczak
Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.
Acta biochimica Polonica 1996;43(2):383-8.
1995: Ewa Bocian; K Jakubów; H Stańczak; D Lewicka; Tadeusz Mazurczak
[Reliability of cytogenetic and clinical diagnostic studies. Results of analyzing 1621 pre- and postnatal studies].
Pediatria polska 1995;70(10):803-8.
1995: A Nowakowska; Jerzy Bal; Ewa Obersztyn; D Sands; D Maciejko; Tadeusz Mazurczak
[A study evaluating the correlation between the phenotype and genotype among 65 cystic fibrosis patients].
Pediatria polska 1995;70(8):633-8.
1995: Jerzy Bal; D Maciejko; Tadeusz Mazurczak
[The type and frequency of mutations in CFTR gene occurrence in patients with cystic fibrosis in Poland--implication of results obtained from genetic counseling and diagnostic screening].
Pediatria polska 1995;70(8):627-32.
1995: Ewa Bocian; Tadeusz Mazurczak; H Stańczak
[Cytogenetic studies in clinical diagnosis --analysis of 1611 examination results].
Przegla̧d lekarski 1995;52(1):5-9.
1994: Cezary Zekanowski; Maria Nowacka; M Zgulska; J Horst; Barbara Cabalska; Tadeusz Mazurczak
Frequencies of the most common mutations responsible for phenylketonuria in Poland.
Molecular and cellular probes 1994;8(4):323-4.
1993: Ewa Bocian; Tadeusz Mazurczak; E Buława; H Stańczak; G Rowicka
Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
Journal of medical genetics 1993;30(7):614-5.
1992: Jerzy Bal; D Maciejko; E Buława; Tadeusz Mazurczak
[Use of molecular DNA probes in the diagnosis of mucoviscidosis-- analysis of restriction fragment length polymorphisms (RFLP) in 22 high-risk families].
Polski tygodnik lekarski (Warsaw, Poland : 1960) 1992;47(9-10):215-8.
1992: Jerzy Bal; Tadeusz Mazurczak; J Reiss
The frequency of mutations in exon 11 of the CF gene in Polish cystic fibrosis patients.
Acta biochimica Polonica 1992;39(3):245-9.
1991: H Kaczorek; Ewa Bocian; Tadeusz Mazurczak
[Results of cytogenetic examinations in 255 married couples with a history of infertility].
Polski tygodnik lekarski (Warsaw, Poland : 1960) 1991;46(17-18):329-31.
1991: Jerzy Bal; D Maciejko; Tadeusz Mazurczak; A Potocka; M Krawczak; Jochen Reiss
Frequency of the cystic fibrosis mutation delta F508 in Poland.
Human genetics 1991;86(3):329.
1990: Ewa Bocian; Tadeusz Mazurczak; K Sosnowska; K Jakubów; H Stańczak; U Teterwak
[Prenatal diagnosis and characteristics of chromosome aberrations in families with genetic risk].
Polski tygodnik lekarski (Warsaw, Poland : 1960) 1990;45(38-39):773-7.
1990: Ewa Bocian; Tadeusz Mazurczak; H Stanczak
Paracentric inversion inv(18)(q21.1q23) in a woman with recurrent spontaneous abortions.
American journal of medical genetics 1990;35(4):592-3.
1990: E Fidziańska; T Abramowicz; Barbara Czartoryska; I Głogowska; D Górska; Tadeusz Mazurczak; Maria Rodo; H Wehr; J Witkowska
[Further steps in regional localization of the gene coding for human arylsulfatase B (ARSB): gene assignment to the section q11-qter of chromosome 5].
Problemy medycyny wieku rozwojowego 1990;16():163-5.
1990: N Duczyńska; Barbara Cabalska; I Nowaczewska; Tadeusz Mazurczak; H Klawe
[Evaluation of amino acids in plasma and amniotic fluid of women from genetic risk groups].
Problemy medycyny wieku rozwojowego 1990;16():103-15.
1989: D Maciejko; Jerzy Bal; Tadeusz Mazurczak; Gerard te Meerman; C Buys; B Oostra; D J J Halley
Different haplotypes for cystic fibrosis-linked DNA polymorphisms in Polish and Dutch populations.
Human genetics 1989;83(3):220-2.
1989: Ewa Bocian; Tadeusz Mazurczak; K Jakubów; K Sosnowska; H Stańczak; U Teterwak
[Prenatal diagnosis of chromosomal aberrations in the second trimester of pregnancy--analysis of problems and diagnostic difficulties].
Ginekologia polska 1989;60(7-9):373-9.
1989: D Maciejko; Jerzy Bal; Tadeusz Mazurczak; S Perzyński
[Study of DNA restriction fragment length polymorphism in the diagnosis of mucoviscidosis].
Pediatria polska 1989;64(2):81-7.
1987: Jerzy Bal; S Perzyński; Tadeusz Mazurczak
[Use of the method of DNA analysis in the diagnosis of hereditary diseases].
Pediatria polska 1987;62(3):192-9.
1986: A Sito; Tadeusz Mazurczak; Krystyna Mikiel-Kostyra
The effectiveness of genetic counseling--system of genetic care in the Wola District of Warsaw.
Problemy medycyny wieku rozwojowego 1986;14():9-58.
1985: J Brycz-Witkowska; Tadeusz Mazurczak; H Stańczak
[Evaluation of karyotypes of married couples in cases of spontaneous abortion].
Ginekologia polska 1985;56(3):127-31.
1985: Tadeusz Mazurczak; M P Czarkowski; A Firkowska-Mankiewicz; A Titkow
Procreational attitudes and behaviour: some problems of genetic counseling effectiveness.
Acta anthropogenetica 1985;9(1-3):122-31.
1984: Krystyna Mikiel-Kostyra; Tadeusz Mazurczak
[Preparation of pediatricians for the care of families with genetic risk--evaluation study].
Pediatria polska 1984;59(12):1027-31.
1984: Tadeusz Mazurczak; Krystyna Mikiel-Kostyra; Ewa Obersztyn
[Prenatal diagnosis in genetic counseling in the light of our experience].
Pediatria polska 1984;59(11):925-9.
1984: M P Czarkowski; A Firkowska-Mankiewicz; Tadeusz Mazurczak; Krystyna Mikiel-Kostyra; A Titkow
[Attitude of patients to prenatal diagnosis based on the example of families with Down's syndrome children].
Ginekologia polska 1984;55(8):569-75.
1984: Tadeusz Mazurczak; Krystyna Mikiel-Kostyra; K Sosnowska; H Klawe; A Jaworska; I Lambert
[Prenatal diagnosis of genetic defects--analysis of 300 cases].
Ginekologia polska 1984;55(8):561-7.
1983: Tadeusz Mazurczak; Krystyna Mikiel-Kostyra; K Sosnowska; J Brycz-Witkowska; H Klawe
[Prenatal diagnosis in families of carriers of balanced chromosome aberrations].
Ginekologia polska 1983;54(8-9):553-7.
1983: I Lambert; J Jaworska; Tadeusz Mazurczak; W Wolańska; J Mazur; Krystyna Mikiel-Kostyra; H Klawe
[Alpha 1-fetoprotein levels of the amniotic fluid in relation to the presence of blood in amniotic fluid].
Ginekologia polska 1983;54(8-9):531-5.
1983: Tadeusz Mazurczak; Krystyna Mikiel-Kostyra
Acceptance of prenatal diagnosis in families referred for genetic counseling.
Acta anthropogenetica 1983;7(4):383-9.
1982: E Czerska; P Czerski; H Kosińska; Tadeusz Mazurczak; J Melanowicz; Krystyna Mikiel-Kostyra; K Sioch; A Sito; K Sosnowska; H Klawe; J Leibschang; A Jaworska; I Lambert; T Mańkowski
[Analysis of 150 amniocenteses].
Ginekologia polska 1982;53(4):229-35.
1980: Tadeusz Mazurczak; E Zbieg-Sendecka; A Nowakowska; P Czerski
[Genetic counseling in families with monogenic recessive metabolic diseases].
Pediatria polska 1980;55(1):57-63.