Publications by authors named "Alina T Midro"

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Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in - Case Study.
Bożena Kosztyła-Hojna, Jan Borys, Maciej Zdrojkowski, Emilia Duchnowska, Anna Kraszewska, Alina Teresa Midro

Appl Clin Genet· September 2021

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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Kevin E Glinton, Anna C E Hurst, Kevin M Bowling, Ingrid Cristian, Devon Haynes, Alina T Midro

Am J Med Genet A· May 2021

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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.
Alina T Midro, Beata Stasiewicz-Jarocka, Jan Borys, Ewa Hubert, Bożena Skotnicka

Am J Med Genet A· April 2020

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Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.
Alina T Midro, Niels Tommerup, Jan Borys, Barbara Panasiuk, Bożena Kosztyła-Hojna

Clin Genet· April 2019

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Chromosome (re)positioning in spermatozoa of fathers and sons - carriers of reciprocal chromosome translocation (RCT).
Marta Olszewska, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Alina T Midro

BMC Med Genomics· February 2019

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A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Alina T Midro, Beata Stasiewicz-Jarocka, Jan Borys, Kazimierz Kozłowski, Bożena Skotnicka

Am J Med Genet A· November 2018

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Clonal chromosomal aberrations in Philadelphia negative cells such as monosomy 7 and trisomy 8 may persist for years with no impact on the long term outcome in patients with chronic myeloid leukemia.
Ewa M Wasilewska, Barbara Panasiuk, Michał Gniot, Anna Sawicka, Katarzyna Kozłowska, Alina T Midro

Cancer Genet· October 2017

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Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.
Darinka Šumanović-Glamuzina, Bernarda Lozić, Piotr S Iwanowski, Tatijana Zemunik, Zeljka Bilinovac, Alina T Midro

Mol Cytogenet· August 2017

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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond, Alina T Midro

Hum Mutat· July 2016

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Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.
Alina T Midro, Marcella Zollino, Ewa Wiland, Barbara Panasiuk, Piotr S Iwanowski

J Assist Reprod Genet· February 2016

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[Systemic sclerosis. Part 2. Epigenetic factors in the pathogenesis of clinical manifestations].
Justyna Fryc, Alina T Midro, Barbara Panasiuk, Stanisław Sierakowski

Przegl Lek· July 2015

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Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.
Marta Myśliwiec, Barbara Panasiuk, Maria Dębiec-Rychter, Piotr Sebastian Iwanowski, Urszula Łebkowska, Alina T Midro

Am J Med Genet A· February 2015

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Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).
Alina Teresa Midro, Barbara Panasiuk, Beata Stasiewicz-Jarocka, Marta Olszewska, Ewa Wiland

J Hum Genet· December 2014

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Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures.
Ewelina Lazarczyk, Malgorzata Drozniewska, Magdalena Pasinska, Beata Stasiewicz-Jarocka, Alina T Midro

Mol Cytogenet· November 2014

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Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male.
Ewa Wiland, Marta Olszewska, Andrew Georgiadis, Nataliya Huleyuk, Barbara Panasiuk, Alina T Midro

Mol Cytogenet· February 2014

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[Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7].
Katarzyna Kozłowska, Barbara Panasiuk, Beata Stasiewicz-Jarocka, Iosif W Lurie, Krystyna Chrzanowska, Alina T Midro

Ginekol Pol· December 2013

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Chromatin structure analysis of spermatozoa from reciprocal chromosome translocation (RCT) carriers with known meiotic segregation patterns.
Marta Olszewska, Monika Fraczek, Nataliya Huleyuk, Anna Czernikiewicz, Ewa Wiland, Alina T Midro

Reprod Biol· September 2013

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[Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20].
Beata Stasiewicz-Jarocka, Milena Kozaczuk, Barbara Panasiuk, Aleksander Jamsheer, Anna Latos-Bieleńska, Alina T Midro

Ginekol Pol· June 2013

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[Systemic sclerosis. Part 1: searching for genetic determinants].
Alina Teresa Midro, Barbara Panasiuk, Justyna Fryc, Beata Stasiewicz-Jarocka, Stanisław Sierakowski

Przegl Lek· March 2013

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[Searching for Tourette's syndrome gene. Part 1. Heterogeneity of clinical phenotypes].
Anna Kowalska, Alina T Midro, Piotr Janik, Anna Gogol, Wojciech Służewski

Postepy Hig Med Dosw (Online)· February 2012

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[Searching for Tourette's syndrome gene. Part 2. Patient's genome variability].
Anna Kowalska, Alina T Midro, Piotr Janik, Anna Gogol, Wojciech Służewski

Postepy Hig Med Dosw (Online)· February 2012

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[Genetic counseling in osteodystrophy Albright syndrome. Part I. Phenotypic diagnosis and pedigree analysis].
Justyna Morawska, Leszek Janusz, Ewa Wasilewska, Stanisław Sierakowski, Alina T Midro

Przegl Lek· October 2011

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[Genetic counseling in osteodystrophy Albright's syndrome. Part II. GNAS1 gene and encoded protein function, genetic forecast and treatment].
Leszek Janusz, Justyna Morawska, Ewa Wasilewska, Stanisław Sierakowski, Alina T Midro

Przegl Lek· October 2011

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Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
Piotr S Iwanowski, Barbara Panasiuk, Griet Van Buggenhout, Marina Murdolo, Marta Myśliwiec, Alina T Midro

Am J Med Genet A· August 2011

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[To know more about the Prader-Willi syndrome. Multidisciplinary support].
Alina T Midro, Beata Olchowik, Aneta Lebiedzińska, Henryk Midro

Psychiatr Pol· October 2009

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