Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 41 Records) |
| Query Trace: Epidermolysis Bullosa[original query] |
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| An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. International journal of dermatology 2014 Aug 53 (8): 985-90. Garza-Gómez Jorge, Cerda-Flores Ricardo M, Gómez-Flores Minerva, Salas-Alanís Julio C, Ocampo-Candiani Jorge, Martínez-Garza Laura E, South Andrew P, Gallardo-Blanco Hugo |
| Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort. BMC dermatology 2014 14 17. Stemmler Susanne, Parwez Qumar, Petrasch-Parwez Elisabeth, Epplen Joerg T, Hoffjan Sabi |
| Real-time PCR detection of the recessive dystrophic epidermolysis bullosa-associated c.2470insG mutation in unrelated Mexican families. Archives of medical research 2014 Oct 45 (7): 596-9. Moreno-Treviño María G, León-Cachón Rafael B R, González-Salazar Francisco, Aguirre-Garza Marcelino, Cerda-Flores Ricardo M, Meester Irene, Salas-Alanis Julio |
| Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation. Journal of applied genetics 2015 Oct . Wertheim-Tysarowska K, O?dak M, Giza A, Kutkowska-Ka?mierczak A, Sota J, Przybylska D, Wo?niak K, ?niegórska D, Niepokój K, Sobczy?ska-Tomaszewska A, Rygiel A M, P?oski R, Bal J, Kowalewski |
| Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre. Acta dermato-venereologica 2018 7 98 (9): 873-879. Yenamandra Vamsi K, Vellarikkal Shamsudheen K, Chowdhury Madhumita R, Jayarajan Rijith, Verma Ankit, Scaria Vinod, Sivasubbu Sridhar, Ray Subrata Basu, Dinda Amit K, Kabra Madhulika, Sharma Vinod K, Sethuraman Gomat |
| Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Human genetics 2018 7 137 (9): 689-703. Du Renqian, Dinckan Nuriye, Song Xiaofei, Coban-Akdemir Zeynep, Jhangiani Shalini N, Guven Yeliz, Aktoren Oya, Kayserili Hulya, Petty Lauren E, Muzny Donna M, Below Jennifer E, Boerwinkle Eric, Wu Nan, Gibbs Richard A, Posey Jennifer E, Lupski James R, Letra Ariadne, Uyguner Z O |
| Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Human mutation 2018 7 39 (10): 1349-1354. Vahidnezhad Hassan, Youssefian Leila, Saeidian Amir Hossein, Touati Andrew, Sotoudeh Soheila, Jazayeri Ali, Guy Alyson, Lovell Patricia A, Liu Lu, Kariminejad Ariana, McGrath John A, Zeinali Sirous, Uitto Jou |
| Novel compound heterozygous and homozygous variants of laminin subunit ?3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia. Congenital anomalies 2018 6 59 (3): 99-101. Al-Zahrani Hams S, Al-Tala Saeed, Mohamoud Hussein S A, Al-Shehri Bandar A, Al-Fadhel Saeed, Al-Qurashi Ali, Al-Bishri Ahmad, Al-Aama Jumana Y, Kang Changsoo, Betz Regina C, Jelani Musharr |
| A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma. Journal of cosmetic dermatology 2018 4 18 (1): 371-376. Xue Ke, Zheng Yajie, Cui Yo |
Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.
Nature communications 2018 12 9 (1): 5075. Petridis Christos, Navarini Alexander A, Dand Nick, Saklatvala Jake, Baudry David, Duckworth Michael, Allen Michael H, Curtis Charles J, Lee Sang Hyuck, Burden A David, Layton Alison, Bataille Veronique, Pink Andrew E, , Carlavan Isabelle, Voegel Johannes J, Spector Timothy D, Trembath Richard C, McGrath John A, Smith Catherine H, Barker Jonathan N, Simpson Michael |
| A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. Pediatric dermatology 2018 1 35 (2): 188-197. Lucky Anne W, Dagaonkar Neha, Lammers Karen, Husami Ammar, Kissell Diane, Zhang Keji |
| Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population. Experimental and therapeutic medicine 2019 11 18 (6): 4661-4664. Zhang Jia, Ding Yu, Li Ming, Yao Zhirong, Zhuang Y |
| Thrombospondin-1 Is a Major Activator of TGF-? Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts. The Journal of investigative dermatology 2019 1 139 (7): 1497-1505.e5. Atanasova Velina S, Russell Rebecca J, Webster Timothy G, Cao Qingqing, Agarwal Pooja, Lim Yok Zuan, Krishnan Suma, Fuentes Ignacia, Guttmann-Gruber Christina, McGrath John A, Salas-Alanis Julio C, Fertala Andrzej, South Andrew |
| Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population. Clinical genetics 2020 6 98 (2): 179-184. Chen Fuying, Huang Linting, Li Changcan, Zhang Jia, Yang Weiqin, Zhang Beibei, Li Huaguo, Deng Dan, Liang Jianying, Shen Jinwen, Yao Zhirong, Li Mi |
| A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa. Genes 2020 12 11 (12): . Garcia Teresa Maria, Kiener Sarah, Jagannathan Vidhya, Russell Duncan S, Leeb Tos |
| Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica. Human mutation 2020 1 41 (5): 906-912. Vahidnezhad Hassan, Youssefian Leila, Sotoudeh Soheila, Liu Lu, Guy Alyson, Lovell Patricia A, Kariminejad Ariana, Zeinali Sirous, McGrath John A, Uitto Jou |
| Genetic trend of the junctional epidermolysis bullosa in the German shorthaired pointer in Italy. Veterinary record open 2021 8 8 (1): e15. Frattini Stefano, Polli Michele, Cortellari Matteo, Negro Alessio, Bionda Arianna, Riva Jacopo, Rizzi Rita, Marelli Stefano, Crepaldi Pao |
| Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases. Acta dermato-venereologica 2021 5 101 (7): adv00503. Yu Yueqian, Wang Zhenzhen, Mi Zihao, Sun Lele, Fu Xi'an, Yu Gongqi, Pang Zheng, Liu Hong, Zhang Fur |
| Clinical characteristics associated with increased wound size in patients with recessive dystrophic epidermolysis bullosa. Pediatric dermatology 2021 3 38 (3): 704-706. Solis Daniel C, Gorell Emily S, Teng Claudia, Barriga Melissa, Nazaroff Jaron, Li Shufeng, Subica Andrew, Lu Ying, Marinkovich M Peter, Tang Jean |
| Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex. Frontiers in genetics 2021 11 12 729628. Xu Xiaojing, Zhao Juan, Wang Chao, Qu Xiaoxuan, Ran Menglong, Ye Fang, Shen Ming, Wang Kundi, Zhang |
| Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum. European journal of medical genetics 2021 10 64 (12): 104345. Nilay Mayank, Saxena Deepti, Mandal Kausik, Moirangthem Amita, Phadke Shubha |
| Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation. American journal of medical genetics. Part A 2022 8 188 (11): 3153-3161. Natale Mónica Inés, Manzur Graciela Beatriz, Lusso Silvina Beatriz, Cella Eliana, Giovo María Elsa, Andrada Romina, Goitia Juana, Fernández María Florencia, Della Giovanna Patricia Silvia, Guillamondegui María José, Domínguez Mariángeles, Gutiérrez Olga, Izquierdo Agustín, Hernández Herrera Heliana, Velázquez Perdomo Luz Graciela, Mistchenko Alicia Susana, Valinotto Laura Ele |
| Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns. HGG advances 2022 1 3 (1): 100059. Gold Nina B, Harrison Steven M, Rowe Jared H, Gold Jessica, Furutani Elissa, Biffi Alessandra, Duncan Christine N, Shimamura Akiko, Lehmann Leslie E, Green Robert |
| Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia. The Australasian journal of dermatology 2023 7 . Inne Arline Diana, Ene-Choo Tan, Srie Prihianti Gondokaryono, Mark Jean-Aan Koh, Reiva Farah Dwiyana, July Iriani Rahardja, Yuri Yogya, Khadijah Rafi'ee, Oki Suwar |
| Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants. Annals of dermatology 2023 12 35 (Suppl 2): S195-S200. Hyeok-Jin Kwon, Dong-Wha Yoo, Jung-Ho Yoon, Namhee Kim, Ki-Ho K |
| Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy. Human genome variation 2023 11 10 (1): 29. Yo Niida, Azusa Kobayashi, Sumihito Togi, Hiroki U |
| Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa. Pediatric dermatology 2023 10 . Shir Bergson, Daniel Daniely, David Bomze, Janan Mohamad, Kiril Malovitski, Odile Meijers, Valeria Briskin, Ofer Bihari, Natalia Malchin, Shirli Israeli, Jacob Mashiah, Tzipora Falik-Zaccai, Emily Avitan-Hersh, Marina Eskin-Schwartz, Stavit Allon-Shalev, Ofer Sarig, Eli Sprecher, Liat Samuel |
| Online, home-based dystrophic epidermolysis bullosa registry. Pediatric dermatology 2024 6 . Vaishali Mittal, Jaron Nazaroff, Edward Eid, Shufeng Li, Eleni Linos, Anthony Oro, Jean Y Ta |
| [A case of Neonatal generalized atrophic benign epidermolysis bullosa due to variants of COL17A1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 5 41 (6): 741-744. Suyue Zhu, Jibing Qiao, Nan Shen, Yongying Zhou, Man Cen, Yazhou Jia |
| Functional Genotype-Phenotype Associations in Recessive Dystrophic Epidermolysis Bullosa. Journal of the American Academy of Dermatology 2024 5 . Jodi Y So, Jaron Nazaroff, Vamsi K Yenamandra, Emily S Gorell, Nicki Harris, Shivali Fulchand, Edward Eid, John A Dolorito, M Peter Marinkovich, Jean Y Ta |
- Page last reviewed:Feb 1, 2024
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