Results 1 to 10 of about 202,059 (264)

A new pathogenic POLG variant

Molecular Genetics and Metabolism Reports, 2022
POLG gene mutations are the most common causes of inherited mitochondrial disorders. The enzyme produced by this gene is responsible for the replication and repair of mitochondrial DNA.
S. Nicholas Russo, Ekta G. Shah, William C. Copeland, Mary Kay Koenig   +3 more
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Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome [PDF]

BMC Medical Genomics
Background Branchio-oto-renal (BOR; MIM 113650) syndrome is primarily linked to pathogenic variants in the EYA1 gene. Although over 200 pathogenic variants of the EYA1 gene have been reported, validation of the pathogenicity of novel variants and the ...
Lei Sun, Defeng Shu, Wencong He, Ruilin Ma, Hui Tao, Zejun Yang, Yanan Li, Ziyang Liu, Yang Zhang, Yin Zhao   +9 more
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Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants

Gynecologic Oncology Reports, 2021
Objective: Tumors harboring a POLE pathogenic variant, associated with high tumor mutational burden, are good candidates for immunotherapy. However, POLE pathogenic variants are not currently screened in routine clinical practice.
M.-C. Villy, J. Masliah-Planchon, S. Melaabi, O. Trabelsi Grati, E. Girard, G. Bataillon, A. Vincent-Salomon, J. Le Gall, L. Golmard, D. Stoppa-Lyonnet, I. Bieche, C. Colas   +11 more
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BRCA 1/BRCA 2 Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers

Balkan Journal of Medical Genetics, 2022
The demographic and clinical characteristics of patients who have BRCA 1/BRCA 2 pathogenic/likely pathogenic variants may differ from their relatives who had BRCA-related cancer.
Osman K., Ahmet K., Hilmi T., İlker N.O., Ercan Ö., Devrim Ç., Murat S., Emre Ç., İlhan H., Mustafa G., Yüksel Ü., Bahiddin Y., Cihan E., Mehmet Ali N. Ş., Emrah E., Umut D., Zeynep O., Mehmet Ali K., Ali G., İvo G., Erkan Ö., Muhammet B.H., Bülent E., Selma D., Sernaz U., Mahmut G., Hakan G., İrfan Ç.   +27 more
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Novel SMAD3 variant identified in a patient with familial aortopathy modeled using a zebrafish embryo assay

Frontiers in Cardiovascular Medicine, 2023
In human, pathogenic variants in smad3 are one cause of familial aortopathy. We describe a novel SMAD3 variant of unknown significance (VUS), V244F, in a patient who presented with aortic root dilation, right coronary artery ectasia, abdominal aortic ...
Mary B. Sheppard, Mary B. Sheppard, Mary B. Sheppard, Mary B. Sheppard, Mary B. Sheppard, Jeffrey D. Smith, Jeffrey D. Smith, Lisa L. Bergmann, Jakub K. Famulski   +8 more
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The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

JCRPE, 2021
Objective:The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characteristics ...
Sinem Yalçıntepe, Fatma Özgüç Çömlek, Hakan Gürkan, Selma Demir, Emine İkbal Atlı, Engin Atlı, Damla Eker, Filiz Tütüncüler Kökenli   +7 more
doaj   +1 more source

Anti-müllerian hormone levels and antral follicle count in women with a BRCA1 or BRCA2 germline pathogenic variant: A retrospective cohort study

Breast, 2021
Background: Some studies suggested a decreased ovarian reserve among BRCA1/2 pathogenic variant carriers, with conflicting results. Methods: We conducted a retrospective single-center observational study of ovarian reserve and spontaneous fertility ...
Laurie Denis-Laroque, Youenn Drouet, Ingrid Plotton, Nicolas Chopin, Valérie Bonadona, Jacqueline Lornage, Bruno Salle, Christine Lasset, Christine Rousset-Jablonski   +8 more
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A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX

Frontiers in Genetics, 2021
Background: Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility. PPIB pathogenic variants cause a perinatal lethal form of OI type IX.
Wenting Zhu, Wenting Zhu, Kai Yan, Xijing Chen, Wei Zhao, Wei Zhao, Yiqing Wu, Yiqing Wu, Huanna Tang, Huanna Tang, Ming Chen, Jian Wu, Pengpeng Wang, Runju Zhang, Yiping Shen, Yiping Shen, Dan Zhang, Dan Zhang   +17 more
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Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

BMC Medical Genomics, 2022
Introduction Dilated cardiomyopathy (DCM) is characterized by the dilation and impaired contraction of 1 or both ventricles and can be caused by a variety of disorders.
Mahshid Malakootian, Mahrokh Bagheri Moghaddam, Samira Kalayinia, Melody Farrashi, Majid Maleki, Parham Sadeghipour, Ahmad Amin   +6 more
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Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants

Molecular Genetics & Genomic Medicine, 2021
Backgrounds MUTYH‐associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with monoallelic ...
Anastasia Dell’Elice, Giulia Cini, Mara Fornasarig, Franco Armelao, Daniela Barana, Francesca Bianchi, Guido Claudio Casalis Cavalchini, Antonella Maffè, Isabella Mammi, Monica Pedroni, Antonio Percesepe, Italo Sorrentini, Mariagrazia Tibiletti, Roberta Maestro, Michele Quaia, Alessandra Viel   +15 more
doaj   +1 more source