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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 5, 2023. (Total: 217663Documents)
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Records 1 - 14 (of 14 Records)

Query Trace: Epidermolysis Bullosa and COL7A1[original query]
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2002 Dec 119 (6): 1456-62.
Gardella Rita, Castiglia Daniele, Posteraro Patrizia, Bernardini Silvia, Zoppi Nicoletta, Paradisi Mauro, Tadini Gianluca, Barlati Sergio, McGrath John A, Zambruno Giovanna, Colombi Mari
Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations.
Archives of dermatological research 2004 1 295 (10): 442-7.
Murata Takayuki, Masunaga Takuji, Ishiko Akira, Shimizu Hiroshi, Nishikawa Take
High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.
The British journal of dermatology 2005 May 152 (5): 879-86.
Csikós M, Szocs H I, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, Bruckner-Tuderman
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
The British journal of dermatology 2009 Nov 161 (5): 1089-97.
Kern J S, Grüninger G, Imsak R, Müller M L, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has
New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.
Acta dermato-venereologica 2009 89 (1): 6-11.
Almaani Noor, Liu Lu, Harrison Naomi, Tanaka Akio, Lai-Cheong Joey, Mellerio Jemima E, McGrath John
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.
BMC medical genetics 2010 11 139.
Cuadrado-Corrales Natividad, Sánchez-Jimeno Carolina, García Marta, Escámez María-José, Illera Nuria, Hernández-Martín Angela, Trujillo-Tiebas María-José, Ayuso Carmen, Del Rio Marce
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
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
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
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
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
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
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