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Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence
He, Tiantian, Sun, Huaqin, Xu, Bocheng, Qu, Haibo, Cai, Xiaotang, Zhou, Hui, Liu, Yanyan, Lin, Ziyuan, Zhang, Xuemei
Published in Frontiers in neurology (18.09.2023)
Published in Frontiers in neurology (18.09.2023)
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Prevalence of familial dyslipidemias, degree of lipid control and relationship with atherosclerotic cardiovascular disease in the general population of Galicia. GALIPEMIAS Study
Díaz-Díaz, José Luis, Ameneiros, M Eugenia, Argüeso Armesto, Rosa, Mostaza Prieto, José María, Pintó Sala, Xavier, Rodríguez González, Avelino, Díaz-Peromingo, José Antonio, Del Alamo Alonso, Alberto, Fernández Catalina, Pablo, Suárez Tembra, Manuel, Názara Otero, Carlos Alberto, Pena Seijo, Marta, Muñiz García, Javier, Pérez-Castro, Teresa Rosalía, Pose Reino, Antonio, Pedro-Botet Montoya, Juan
Published in Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis (28.05.2025)
Published in Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis (28.05.2025)
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Mutation profile of neurodegenerative mitochondriopathy – LHON in Southern India
Gowri, Poigaialwar, Sathish, Ponraj, Mahesh Kumar, Shanmugam, Sundaresan, Periasamy
Published in Gene (20.04.2022)
Published in Gene (20.04.2022)
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Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy
Manickam, AgaathHedina, Michael, MinuJenifer, Ramasamy, Sivasamy
Published in Indian journal of ophthalmology (01.11.2017)
Published in Indian journal of ophthalmology (01.11.2017)
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Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites
Benndorf, Rainer, Martin, Jody L., Kosakovsky Pond, Sergei L., Wertheim, Joel O.
Published in Mutation research. Reviews in mutation research (01.07.2014)
Published in Mutation research. Reviews in mutation research (01.07.2014)
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Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation
Zhang, Zhao, Lu, Yu, Cao, Jing‐Yuan, Wang, Li, Li, Lin‐Ke, Wang, Chao, Ye, Xuan, Ji, Yi‐Ming, Tu, Lin‐Yi, Sun, Yi
Published in Molecular genetics & genomic medicine (01.05.2022)
Published in Molecular genetics & genomic medicine (01.05.2022)
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Rationale, design and preliminary results of the GALIPEMIAS study (prevalence and lipid control of familial dyslipidemia in Galicia, northwest Spain)
Argüeso‐Armesto, Rosa María, Pérez‐Castro, Teresa‐Rosalia, Díaz‐Díaz, José Luis, Rodríguez‐González, Avelino, Ameneiros‐Lago, María Eugenia, Alamo‐Alonso, Alberto, Toro‐Santos, José Manuel, Fernández‐Catalina, Pablo Ángel, Pena‐Seijo, Marta, Díaz‐Peromingo, Jose Antonio, Pose‐Reino, Antonio, Názara‐Otero, Carlos Alberto, Vázquez‐Freire, María Rosa, Escobar‐Seoane, Lisett, Gordo‐Fraile, Pedro, Castellanos‐Rodríguez, María del Mar, Rodríguez‐Fernández, José Ángel, Muñiz, Javier
Published in International journal of clinical practice (Esher) (01.09.2018)
Published in International journal of clinical practice (Esher) (01.09.2018)
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Clinical and genetic analysis VSX1 variants among families with keratoconus in northwest China
Zhang, Jinjin, Cai, Bo, Ma, Limei, Qin, Yixuan, Li, Shuai, Sun, Caihong, Liang, Jing, Han, Yu, Zhuang, Wenjuan
Published in Frontiers in genetics (14.03.2023)
Published in Frontiers in genetics (14.03.2023)
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Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis
Alesi, Viola, Dentici, Maria Lisa, Genovese, Silvia, Loddo, Sara, Bellacchio, Emanuele, Orlando, Valeria, Di Tommaso, Silvia, Catino, Giorgia, Calacci, Chiara, Calvieri, Giusy, Pompili, Daniele, Ubertini, Graziamaria, Dallapiccola, Bruno, Capolino, Rossella, Novelli, Antonio
Published in International journal of molecular sciences (13.01.2021)
Published in International journal of molecular sciences (13.01.2021)
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Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life
Buganza, Raffaele, Massini, Giulia, Di Taranto, Maria Donata, Cardiero, Giovanna, de Sanctis, Luisa, Guardamagna, Ornella
Published in Journal of cardiovascular development and disease (01.04.2024)
Published in Journal of cardiovascular development and disease (01.04.2024)
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Family-based study of HTR2A in suicide attempts: observed gene, gene x environment and parent-of-origin associations
Ben-Efraim, Y.J, Wasserman, D, Wasserman, J, Sokolowski, M
Published in Molecular psychiatry (01.07.2013)
Published in Molecular psychiatry (01.07.2013)
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Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease
Sivera Mascaró, R., García Sobrino, T., Horga Hernández, A., Pelayo Negro, A.L., Alonso Jiménez, A., Antelo Pose, A., Calabria Gallego, M.D., Casasnovas, C., Cemillán Fernández, C.A., Esteban Pérez, J., Fenollar Cortés, M., Frasquet Carrera, M., Gallano Petit, M.P., Giménez Muñoz, A., Gutiérrez Gutiérrez, G., Gutiérrez Martínez, A., Juntas Morales, R., Ciano-Petersen, N.L., Martínez Ulloa, P.L., Mederer Hengstl, S., Millet Sancho, E., Navacerrada Barrero, F.J., Navarrete Faubel, F.E., Pardo Fernández, J., Pascual Pascual, S.I., Pérez Lucas, J., Pino Mínguez, J., Rabasa Pérez, M., Sánchez González, M., Sotoca, J., Rodríguez Santiago, B., Rojas García, R., Turon-Sans, J., Vicent Carsí, V., Sevilla Mantecón, T.
Published in Neurología (Barcelona, English ed. ) (01.04.2025)
Published in Neurología (Barcelona, English ed. ) (01.04.2025)
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Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome
Ali, Ghazanfar, Sadia, Foo, Jia Nee, Nasir, Abdul, Chang, Chu-Hua, Chew, Elaine GuoYan, Latif, Zahid, Azeem, Zahid, Ain-ul-Batool, Syeda, Kazmi, Syed Akif Raza, Awan, Naheed Bashir, Khan, Abdul Hameed, Rehman, Fazal-Ur, Khalid, Madiha, Wali, Abdul, Sarwar, Samina, Akhtar, Wasim, Ahmed Abbasi, Ansar, Nisar, Rameez
Published in BioMed research international (2021)
Published in BioMed research international (2021)
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CFHR5 Nephropathy Case Report: A Novel Variant Characterized by Tubulointerstitial Kidney Disease
Santarsiere, Rita, Florio, Giulia, Gonnella, Annalisa, D'Angiò, Pierluigi, Laurino, Simona, Zacchia, Miriam, Del Vecchio Blanco, Francesca, Perna, Alessandra F., Trepiccione, Francesco, Gigliotti, Giuseppe
Published in Kidney & blood pressure research (23.05.2025)
Published in Kidney & blood pressure research (23.05.2025)
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Finding Suitable Phenotypes for Genetic Studies of Schizophrenia: Heritability and Segregation Analysis
Aukes, Maartje F., Alizadeh, Behrooz Z., Sitskoorn, Margriet M., Selten, Jean-Paul, Sinke, Richard J., Kemner, Chantal, Ophoff, Roel A., Kahn, René S.
Published in Biological psychiatry (1969) (15.07.2008)
Published in Biological psychiatry (1969) (15.07.2008)
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TGFBI gene mutations in a Korean population with corneal dystrophy
Cho, Kyong Jin, Mok, Jee Won, Na, Kyung Sun, Rho, Chang Rae, Byun, Yong Soo, Hwang, Ho Sik, Hwang, Kyu Yeon, Joo, Choun-Ki
Published in Molecular vision (20.07.2012)
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Published in Molecular vision (20.07.2012)
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