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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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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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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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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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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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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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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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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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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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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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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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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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Functional study of novel PAX9 variants: The paired domain and non‐syndromic oligodontia
Sun, Kai, Yu, Miao, Yeh, Iting, Zhang, Liutao, Liu, Haochen, Cai, Tao, Feng, Hailan, Liu, Yang, Han, Dong
Published in Oral diseases (01.09.2021)
Published in Oral diseases (01.09.2021)
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De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
Smits, Jeroen J., Oostrik, Jaap, Beynon, Andy J., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, Koole, Wouter, Feenstra, Ilse, Admiraal, Ronald J. C., Lanting, Cornelis P., Schraders, Margit, Yntema, Helger G., Pennings, Ronald J. E., Kremer, Hannie
Published in Human genetics (01.01.2019)
Published in Human genetics (01.01.2019)
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