Publications by authors named "Jennifer Castaneda"

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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Katarzyna Woźniak, Justyna Sawicka, Adrianna Mika, Jennifer Castaneda

Orphanet J Rare Dis· November 2024

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Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.
Katarzyna Kowalczyk, Magdalena Bartnik-Głaska, Marta Smyk, Izabela Plaskota, Joanna Bernaciak

Genes (Basel)· April 2022

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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Jennifer Castaneda

Genes (Basel)· December 2021

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Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.
Katarzyna Kowalczyk, Magdalena Bartnik-Głaska, Marta Smyk, Izabela Plaskota, Joanna Bernaciak

Genes (Basel)· December 2021

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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Aleksandra Jakubiak, Krzysztof Szczałuba, Magdalena Badura-Stronka, Anna Kutkowska-Kaźmierczak, Anna Jakubiuk-Tomaszuk, Jennifer Castaneda

J Appl Genet· September 2021

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Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki

Genes (Basel)· August 2021

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A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report.
Joanna Bernaciak, Barbara Wiśniowiecka-Kowalnik, Jennifer Castañeda, Anna Kutkowska-Kaźmierczak, Beata Nowakowska

Dev Period Med· July 2019

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[The genetics of obesity - pathogenetic, clinical and diagnostic aspects].
Artur Barczyk, Anna Kutkowska-Kaźmierczak, Jennifer Castañeda, Ewa Obersztyn

Dev Period Med· July 2019

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Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders.
Victor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, Krzysztof Szczałuba, Małgorzata Rydzanicz, Jennifer Castaneda

J Med Genet· February 2019

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Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Wojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, Monika Bekiesinska-Figatowska, Ewa Obersztyn, Jennifer Castaneda

Eur J Hum Genet· August 2018

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FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Juliette Piard, Jia-Hua Hu, Philippe M Campeau, Sylwia Rzonca, Hilde Van Esch, Jennifer Castaneda

Hum Mol Genet· February 2018

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Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.
Krzysztof Szczałuba, Beata Nowakowska, Katarzyna Sobecka, Marta Smyk, Jennifer Castaneda

Adv Exp Med Biol· December 2016

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High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate.
Krzysztof Szczałuba, Beata A Nowakowska, Katarzyna Sobecka, Marta Smyk, Jennifer Castaneda

Neonatology· January 2016

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The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.
Magdalena Bartnik, Barbara Wiśniowiecka-Kowalnik, Beata Nowakowska, Marta Smyk, Marta Kędzior

Dev Period Med· October 2014

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CDKN2A common variant and multi-organ cancer risk--a population-based study.
Tadeusz Debniak, Rodney J Scott, Tomasz Huzarski, Tomasz Byrski, Andrzej Rozmiarek, Jennifer Castaneda

Int J Cancer· June 2006

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Prevalence of the NOD2 3020insC mutation in aggregations of breast and lung cancer.
Marcin Radosław Lener, Dorota Oszutowska, Jennifer Castaneda, Grzegorz Kurzawski, Janina Suchy

Breast Cancer Res Treat· January 2006

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Low-risk Genes and Multi-organ Cancer Risk in the Polish Population.
Tadeusz Debniak, Cezary Cybulski, Grzegorz Kurzawski, Bohdan Górski, Tomasz Huzarski, Jennifer Castaneda

Hered Cancer Clin Pract· January 2006

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