Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience

Authors: Vida B, Török O, Felszeghy E, Orosz M, Krasznai ZT, Tándor Z, Jakab A, Deli T

Source: The Application of Clinical Genetics, Vol Volume 18, Pp 9-27 (2025)

Subject Terms: turner-syndrome, karyotype-phenotype association, comorbidities, mosaicism, incomplete penetrance, premature ovarian insufficiency, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.dovepress.com/associations-of-karyotype-and-age-at-diagnosis-with-physical-features--peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

Access URL: https://doaj.org/article/846eececf9fb4cbd8b5dc1539c4a9dbe

Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila

Authors: Thorpe, Holly J. ¹, Pedersen, Brent S. ¹, Dietze, Miranda ², Link, Nichole ², Quinlan, Aaron R. ¹, Bonkowsky, Joshua L. ^{3, 4}, Thomas, Ashley ⁵, Chow, Clement Y. ^{1, ∗}

Source: In The American Journal of Human Genetics 6 March 2025 112(3):572-582

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Authors: Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

Subject Terms: Leber hereditary optic neuropathy, Mitochondrial DNA, Pathologic mutation, Large pedigree, Incomplete penetrance, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/6e3b9de78c4e4071ad94d231642e4ed6

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode

Authors: Peng Chen, Zainul Zampawala, Hong Wang, Luyun Wang

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: kcnh2, Long QT syndrome, gender selective, turner syndrome, incomplete penetrance, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1409459/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/d3d25666351943b68ec4045bb0f0afaf

Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes

Authors: Marzia De Bortoli, Viviana Meraviglia, Katarina Mackova, Laura S. Frommelt, Eva König, Johannes Rainer, Chiara Volani, Patrizia Benzoni, Maja Schlittler, Giada Cattelan, Benedetta M. Motta, Claudia Volpato, Werner Rauhe, Andrea Barbuti, Serena Zacchigna, Peter P. Pramstaller, Alessandra Rossini

Source: Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 1759-1773 (2023)

Subject Terms: Arrhythmogenic cardiomyopathy, Incomplete penetrance, Human induced pluripotent stem cell derived cardiomyocytes, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037023000764; https://doaj.org/toc/2001-0370

Access URL: https://doaj.org/article/2220b6b3a2c54765af91e30f1c2ec426

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome

Authors: Shao-Yu Chang, Naotomo Kambe, Wen-Lang Fan, Jing-Long Huang, Wen-I Lee, Chao-Yi Wu

Source: Pediatric Rheumatology Online Journal, Vol 20, Iss 1, Pp 1-9 (2022)

Subject Terms: Blau syndrome, NOD2, Incomplete penetrance, NFκB, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/1546-0096

Access URL: https://doaj.org/article/c6d8581b54654273bee52f6d8e1d78f2

Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria

Authors: Elena Di Pierro, Miriana Perrone, Milena Franco, Francesca Granata, Lorena Duca, Debora Lattuada, Giacomo De Luca, Giovanna Graziadei

Source: Life, Vol 13, Iss 9, p 1923 (2023)

Subject Terms: acute intermittent porphyria, heme, mtDNA copy number, mitochondrial biogenesis, PERM1, incomplete penetrance, Science

File Description: electronic resource

Relation: https://www.mdpi.com/2075-1729/13/9/1923; https://doaj.org/toc/2075-1729

Access URL: https://doaj.org/article/f89a1dc69a294aae908ba38b498646dd

Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2

Authors: Jing Wang, Chunyan Wang, Haiyang Xie, Xiaoyuan Feng, Lei Wei, Binbin Wang, Tengyan Li, Mingan Pi, Li Gong

Source: Frontiers in Cardiovascular Medicine, Vol 9 (2022)

Subject Terms: Tetralogy of Fallot, whole exome sequencing, heterozygous variant, MYOM2, incomplete penetrance, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2022.863650/full; https://doaj.org/toc/2297-055X

Access URL: https://doaj.org/article/f527f0a3e50646ed8299dd300f756f95

Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease

Authors: Li Gong, Chunyan Wang, Haiyang Xie, Jun Gao, Tengyan Li, Shenggui Qi, Binbin Wang, Jing Wang

Source: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)

Subject Terms: congenital heart disease, incomplete penetrance, missense variant, SOX9, whole exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/ea56b791f616497cadfbdcce211e1c4d

A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance

Authors: Rui‐Qi Bai, Wen‐Bin He, Qian Peng, Su‐Hui Shen, Qian‐Qian Yu, Juan Du, Yue‐Qiu Tan, Yue‐Hong Wang, Bin‐Jie Liu

Source: Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)

Subject Terms: amelogenesis imperfecta, FAM83H variant, hypocalcification, incomplete penetrance, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/2a22b93ebf3141c28ba7467808328de9

Chapter 97 - Patterns of Genetic Transmission

Authors: Scott, Daryl A., Lee, Brendan

Source: In Nelson Textbook of Pediatrics Edition: 22nd Edition. 2025:735-748

Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A)

Authors: Quanli Han, Si Liu, Zhi Cui, Qi Wang, Tonghui Ma, Liwen Jiang, Xiaomo Li, Guanghai Dai

Source: Frontiers in Genetics, Vol 12 (2022)

Subject Terms: Lynch syndrome, lung cancer, PMS2, splicing variant, incomplete penetrance, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.799807/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/d4929be553bd43c199d2fe695807a384

Clinical, molecular, and genetic characteristics of the hereditary spastic paraplegia type 3

Authors: Galina E. Rudenskaya, Varvara A. Kadnikova, Christian Beetz, Tatyana N. Proskokova, Irina G. Sermyagina, Anna A. Stepanova, Valery P. Fedotov, Elena L. Dadaly, Darya M. Guseva, Тatiana V. Markova, Oksana P. Ryzhkova

Source: Анналы клинической и экспериментальной неврологии, Vol 14, Iss 1, Pp 44-54 (2020)

Subject Terms: spg3, atl1 gene mutation, high-throughput exon sequencing, mps, incomplete penetrance, clinical picture, combination of diseases, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://annaly-nevrologii.com/journal/pathID/article/viewFile/636/506; https://doaj.org/toc/2075-5473; https://doaj.org/toc/2409-2533

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A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report

Authors: Cristina Grippaudo, Concetta Cafiero, Isabella D’Apolito, Agnese Re, Maurizio Genuardi, Pietro Chiurazzi, Sylvia A. Frazier-Bowers

Source: BMC Oral Health, Vol 19, Iss 1, Pp 1-6 (2019)

Subject Terms: Primary failure of eruption, Orthodontics, PTH1R gene, Nonsense variant, Incomplete penetrance, Case report, Dentistry, RK1-715

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12903-019-0944-9; https://doaj.org/toc/1472-6831

Access URL: https://doaj.org/article/177c46f837e141bcbffd99b422cdaec1

TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree

Authors: Sadegh Rajabi, Romina Dastmalchi, Mohammad Hossein Dehghan, Ali Eftekharian, Elmira Aghazadeh, Sayyed Mohammad Hossein Ghaderian

Source: Journal of Genetic Resources, Vol 5, Iss 2, Pp 143-148 (2019)

Subject Terms: hereditary hearing loss, missense mutation, incomplete penetrance, tjp2, Genetics, QH426-470

File Description: electronic resource

Relation: http://sc.journals.umz.ac.ir/article_2423_1c315d1cec69834d21e7b95aa8464c0a.pdf; https://doaj.org/toc/2423-4257; https://doaj.org/toc/2588-2589

Access URL: https://doaj.org/article/c8cb662adcc54d79a0145e81cbd8cd0d

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Authors: Bolze, Alexandre, Boisson, Bertrand, Bosch, Barbara, Antipenko, Alexander, Bouaziz, Matthieu, Sackstein, Paul, Chaker-Margot, Malik, Barlogis, Vincent, Briggs, Tracy, Colino, Elena, Elmore, Aurora C., Fischer, Alain, Genel, Ferah, Hewlett, Angela, Jedidi, Maher, Kelecic, Jadranka, Krüger, Renate, Ku, Cheng-Lung, Kumararatne, Dinakantha, Lefevre-Utile, Alain, Loughlin, Sam, Mahlaoui, Nizar, Markus, Susanne, Garcia, Juan-Miguel, Nizon, Mathilde, Oleastro, Matias, Pac, Malgorzata, Picard, Capucine, Pollard, Andrew J., Rodriguez-Gallego, Carlos, Thomas, Caroline, Von Bernuth, Horst, Worth, Austen, Meyts, Isabelle, Risolino, Maurizio, Selleri, Licia, Puel, Anne, Klinge, Sebastian, Abel, Laurent, Casanova, Jean-Laurent

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Aug . 115(34), E8007-E8016.

Access URL: https://www.jstor.org/stable/26530204

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II

Authors: Jing Wang, Yu Lu, Xiaohong Yan, Tian Shen, Linke Li, Yufang Rao, Bo Tan, Wenyu Xiong, Jing Cheng, Yu Zhao, Huijun Yuan

Source: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)

Subject Terms: incomplete penetrance, MITF, sensorineural hearing loss, Waardenburg syndrome, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/a0e5d4ed02074a4aa54fbbf33566c860

Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant

Authors: Rossella Piras, Paraskevas Iatropoulos, Elena Bresin, Marta Todeschini, Sara Gastoldi, Elisabetta Valoti, Marta Alberti, Caterina Mele, Miriam Galbusera, Paola Cuccarolo, Ariela Benigni, Giuseppe Remuzzi, Marina Noris

Source: Frontiers in Medicine, Vol 7 (2020)

Subject Terms: atypical hemolytic uremic syndrome, complement, membrane cofactor protein, incomplete penetrance, splicing, CD46 expression, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2020.579418/full; https://doaj.org/toc/2296-858X

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Three Women with Non-Segmental Vitiligo in Three Generations of a Family: A Case Report

Authors: Fatemeh Chorli, Zahra Ghodsalavi, Maryam Hajilari, Farzad Dastaviz, Majid Mehri, Morteza Oladnabi

Source: Journal of Clinical and Basic Research, Vol 2, Iss 4, Pp 41-47 (2018)

Subject Terms: non-segmental vitiligo, incomplete penetrance, skin depigmentation, Internal medicine, RC31-1245

File Description: electronic resource

Relation: http://jcbr.goums.ac.ir/article-1-169-en.html; https://doaj.org/toc/2538-3736

Access URL: https://doaj.org/article/34d98f92a9394ad2883fe623e75f8c6b

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

Authors: Angelica Bianco, Alessio Valletti, Giovanna Longo, Luigi Bisceglia, Julio Montoya, Sonia Emperador, Silvana Guerriero, Vittoria Petruzzella

Source: BMC Research Notes, Vol 11, Iss 1, Pp 1-4 (2018)

Subject Terms: Incomplete penetrance, Leber’s hereditary optic neuropathy, Mitochondrial genome, mtDNA copy number, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13104-018-4025-y; https://doaj.org/toc/1756-0500

Access URL: https://doaj.org/article/4e84867cd39546fdad35c467d4ae1865