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Angiographic Characteristics in Mild Familial Exudative Vitreoretinopathy with Genetically Confirmed Autosomal Dominant Inheritance
Okamoto, Misato, Matsushita, Itsuka, Nagata, Tatsuo, Fujino, Yoshihisa, Kondo, Hiroyuki
Published in Ophthalmology retina (01.02.2025)
Published in Ophthalmology retina (01.02.2025)
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Journal Article
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET
Hocquel, Armand, Ravel, Jean-Marie, Lambert, Laetitia, Bonnet, Céline, Banneau, Guillaume, Kol, Bophara, Tissier, Laurène, Hopes, Lucie, Meyer, Mylène, Dillier, Céline, Michaud, Maud, Lardin, Arnaud, Kaminsky, Anne-Laure, Schmitt, Emmanuelle, Liao, Liang, Zhu, François, Myriam, Bronner, Bossenmeyer-Pourié, Carine, Verger, Antoine, Renaud, Mathilde
Published in Neurogenetics (01.10.2022)
Published in Neurogenetics (01.10.2022)
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Journal Article
Autosomal Dominant Inheritance of Centrotemporal Sharp Waves in Rolandic Epilepsy Families
Bali, Bhavna, Kull, Lewis L., Strug, Lisa J., Clarke, Tara, Murphy, Peregrine L., Akman, Cigdem I., Greenberg, David A., Pal, Deb K.
Published in Epilepsia (Copenhagen) (01.12.2007)
Published in Epilepsia (Copenhagen) (01.12.2007)
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Journal Article
Familial essential tremor with apparent autosomal dominant inheritance: Should we also consider other inheritance modes?
Ma, Shaochun, Davis, Thomas L., Blair, Marcia A., Fang, John Y., Bradford, Yuki, Haines, Jonathan L., Hedera, Peter
Published in Movement disorders (01.09.2006)
Published in Movement disorders (01.09.2006)
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Journal Article
Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes
Zenteno, Juan C., Arce-Gonzalez, Rocio, Matsui, Rodrigo, Lopez-Bolaños, Antonio, Montes, Luis, Martinez-Aguilar, Alan, Chacon-Camacho, Oscar F.
Published in Graefe's archive for clinical and experimental ophthalmology (01.02.2023)
Published in Graefe's archive for clinical and experimental ophthalmology (01.02.2023)
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Journal Article
Defining the Role of Essential Genes in Human Disease
Dickerson, Jonathan E., Zhu, Ana, Robertson, David L., Hentges, Kathryn E.
Published in PloS one (11.11.2011)
Published in PloS one (11.11.2011)
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Journal Article
Update on clinical screening of maturity-onset diabetes of the young (MODY)
Peixoto-Barbosa, Renata, Reis, André F., Giuffrida, Fernando M. A.
Published in Diabetology and metabolic syndrome (08.06.2020)
Published in Diabetology and metabolic syndrome (08.06.2020)
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Journal Article
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
Ghasemi, Mohammad-Reza, Sadeghi, Hossein, Hashemi-Gorji, Farzad, Mirfakhraie, Reza, Gupta, Vijay, Ben-Mahmoud, Afif, Bagheri, Saman, Razjouyan, Katayoon, Salehpour, Shadab, Tonekaboni, Seyed Hassan, Dianatpour, Mehdi, Omrani, Davood, Jang, Mi-Hyeon, Layman, Lawrence C., Miryounesi, Mohammad, Kim, Hyung-Goo
Published in BMC medical genomics (05.08.2024)
Published in BMC medical genomics (05.08.2024)
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Journal Article
Discovering lethal alleles across the turkey genome using a transmission ratio distortion approach
Abdalla, E. A., Id‐Lahoucine, S., Cánovas, A., Casellas, J., Schenkel, F. S., Wood, B. J., Baes, C. F.
Published in Animal genetics (01.12.2020)
Published in Animal genetics (01.12.2020)
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Journal Article
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia
Neilson, Derek E., Zech, Michael, Hufnagel, Robert B., Slone, Jesse, Wang, Xinjian, Homan, Shelli, Gutzwiller, Lisa M., Leslie, Elizabeth J., Leslie, Nancy D., Xiao, Jianfeng, Hedera, Peter, LeDoux, Mark S., Gebelein, Brian, Wilbert, Friederike, Eckenweiler, Matthias, Winkelmann, Juliane, Gilbert, Donald L., Huang, Taosheng
Published in Movement disorders (01.02.2022)
Published in Movement disorders (01.02.2022)
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Journal Article
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia
Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong‐Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier‐Daire, Valérie, Kim, Ok‐Hwa, Forlino, Antonella, Cho, Tae‐Joon, Mäkitie, Outi
Published in Journal of bone and mineral research (01.02.2021)
Published in Journal of bone and mineral research (01.02.2021)
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Journal Article
The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series
Ulugut Erkoyun, Hulya, van der Lee, Sven J., Nijmeijer, Bas, van Spaendonk, Rosalina, Nelissen, Anne, Scarioni, Marta, Dijkstra, Anke, Samancı, Bedia, Gürvit, Hakan, Yıldırım, Zerrin, Tepgeç, Fatih, Bilgic, Basar, Barkhof, Frederik, Rozemuller, Annemieke, van der Flier, Wiesje M., Scheltens, Philip, Cohn-Hokke, Petra, Pijnenburg, Yolande
Published in Journal of Alzheimer's disease (01.01.2021)
Published in Journal of Alzheimer's disease (01.01.2021)
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Journal Article
Segregation Analysis of Prostate Cancer in France: Evidence for Autosomal Dominant Inheritance and Residual Brother‐brother Dependence
Valeri, A., Briollais, L., Azzouzi, R., Fournier, G., Mangin, P., Berthon, P., Cussenot, O., Demenais, F.
Published in Annals of human genetics (01.03.2003)
Published in Annals of human genetics (01.03.2003)
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Journal Article
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
D’Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, Ivo, Fazeli, Walid, Herkenrath, Peter, Marini, Carla, Vittorini, Roberta, Gowda, Vykuntaraju, Bouman, Arjan, Rocca, Clarissa, Alkhawaja, Issam Azmi, Murtaza, Bibi Nazia, Rehman, Malik Mujaddad Ur, Al Alam, Chadi, Nader, Gisele, Mancardi, Maria Margherita, Giacomini, Thea, Srivastava, Siddharth, Alvi, Javeria Raza, Tomoum, Hoda, Matricardi, Sara, Iacomino, Michele, Riva, Antonella, Scala, Marcello, Madia, Francesca, Pistorio, Angela, Salpietro, Vincenzo, Minetti, Carlo, Rivière, Jean-Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, Nagy, Vanja
Published in Human genetics (01.07.2023)
Published in Human genetics (01.07.2023)
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Journal Article