Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene
Midro, Alina T., Stasiewicz‐Jarocka, Beata, Borys, Jan, Hubert, Ewa, Skotnicka, Bożena, Hassmann‐Poznańska, Elżbieta, Sierpińska, Teresa, Panasiuk, Barbara, Schanze, Denny, Zenker, Martin
Published in American journal of medical genetics. Part A (01.04.2020)
Published in American journal of medical genetics. Part A (01.04.2020)
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Journal Article
A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation
Midro, Alina T., Stasiewicz‐Jarocka, Beata, Borys, Jan, Kozłowski, Kazimierz, Skotnicka, Bożena, Tarasów, Eugeniusz, Hubert, Ewa, Konstantynowicz, Jerzy, Panasiuk, Barbara, Rydzanicz, Małgorzata, Pollak, Agnieszka, Stawiński, Piotr, Skowroński, Rafał, Płoski, Rafał
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Journal Article
Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)
Midro, Alina Teresa, Panasiuk, Barbara, Stasiewicz-Jarocka, Beata, Olszewska, Marta, Wiland, Ewa, Myśliwiec, Marta, Kurpisz, Maciej, Shaffer, Lisa G, Gajecka, Marzena
Published in Journal of human genetics (01.12.2014)
Published in Journal of human genetics (01.12.2014)
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Journal Article
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel
Published in American journal of medical genetics. Part A (01.05.2021)
Published in American journal of medical genetics. Part A (01.05.2021)
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Journal Article
Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations
Šumanović-Glamuzina, Darinka, Lozić, Bernarda, Iwanowski, Piotr S, Zemunik, Tatijana, Bilinovac, Zeljka, Stasiewicz-Jarocka, Beata, Panasiuk, Barbara, Midro, Alina T
Published in Molecular cytogenetics (04.08.2017)
Published in Molecular cytogenetics (04.08.2017)
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Journal Article
Interstitial deletion 9q22.32‐q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail‐Patella syndrome
Midro, Alina T., Panasiuk, Barbara, Tümer, Zeynep, Stankiewicz, Paweł, Silahtaroglu, Asli, Lupski, James R., Zemanova, Zuzana, Stasiewicz‐Jarocka, Beata, Hubert, Ewa, Tarasów, Eugeniusz, Famulski, Waldemar, Zadrożna‐Tołwińska, Barbara, Wasilewska, Ewa, Kirchhoff, Marie, Kalscheuer, Vera, Michalova, Kyra, Tommerup, Niels
Published in American journal of medical genetics. Part A (15.01.2004)
Published in American journal of medical genetics. Part A (15.01.2004)
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Journal Article
Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures
Lazarczyk, Ewelina, Drozniewska, Malgorzata, Pasinska, Magdalena, Stasiewicz-Jarocka, Beata, Midro, Alina T, Haus, Olga
Published in Molecular cytogenetics (19.11.2014)
Published in Molecular cytogenetics (19.11.2014)
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Journal Article
Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20
Stasiewicz-Jarocka, Beata, Kozaczuk, Milena, Panasiuk, Barbara, Jamsheer, Aleksander, Latos-Bieleńska, Anna, Midro, Alina T
Published in Ginekologia polska (01.06.2013)
Published in Ginekologia polska (01.06.2013)
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Journal Article
Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7
Kozłowska, Katarzyna, Panasiuk, Barbara, Stasiewicz-Jarocka, Beata, Lurie, Iosif W, Chrzanowska, Krystyna, Lenkiewicz, Marzena, Gutkowska, Anna, Iliszko, Mariola, Midro, Alina T
Published in Ginekologia polska (01.12.2013)
Published in Ginekologia polska (01.12.2013)
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Journal Article
Probability rates for different pregnancy outcomes in carriers of reciprocal chromosomal translocations involving chromosome 13
Panasiuk, Barbara, Dawidowska, Wioletta K, Stasiewicz-Jarocka, Beata, Lurie, Iosif W, Midro, Alina T
Published in Ginekologia polska (01.07.2008)
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Published in Ginekologia polska (01.07.2008)
Journal Article
The results of cytogenetic and molecular genetic examinations in 35 couples with primary sterility
Pasińska, Magdalena, Haus, Olga, Skonieczka, Katarzyna, Slezak, Ryszard, Midro, Alina T, Stasiewicz-Jarocka, Beata, Szczepaniak, Małgorzata, Adamczak, Rafał, Marcinkowska, Anna, Bartusiak, Kamilla
Published in Wiadomości lekarskie (1960) (2006)
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Published in Wiadomości lekarskie (1960) (2006)
Journal Article
Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X
Panasiuk, Barbara, Ušinskiené, Ruta, Kostyk, Ewa, Rybałko, Alicja, Stasiewicz-Jarocka, Beata, Krzykwa, Bogustawa, Pieńkowska-Grela, Barbara, Kučinskas, Vaidutis, Michalova, Kyra, Midro, Alina T
Published in Annales de génétique (2004)
Published in Annales de génétique (2004)
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Journal Article
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome
Midro, Alina T., Panasiuk, Barbara, Tümer, Zeynep, Stankiewicz, Paweł, Silahtaroglu, Asli, Lupski, James R., Zemanova, Zuzana, Stasiewicz-Jarocka, Beata, Hubert, Ewa, Tarasów, Eugeniusz, Famulski, Waldemar, Zadrożna-Tołwińska, Barbara, Wasilewska, Ewa, Kirchhoff, Marie, Kalscheuer, Vera, Michalova, Kyra, Tommerup, Niels
Published in American Journal of Medical Genetics Part A (15.01.2004)
Published in American Journal of Medical Genetics Part A (15.01.2004)
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