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Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
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Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Carmignac, Virginie ; Nambot, Sophie ; Lehalle, Daphné ; Callier, Patrick ; Moortgat, Stephanie ; Benoit, Valérie ; Ghoumid, Jamal ; Delobel, Bruno ; Smol, Thomas ; Thuillier, Caroline ; Zordan, Cécile ; Naudion, Sophie ; Bienvenu, Thierry ; Touraine, Renaud ; Ramond, Francis ; Zweier, Christiane ; Reis, André ; Kraus, Cornelia ; Nizon, Mathilde ; Cogné, Benjamin ; Verloes, Alain ; Tran Mau‐Them, Frédéric ; Sorlin, Arthur ; Jouan, Thibaud ; Duffourd, Yannis ; Tisserant, Emilie ; Philippe, Christophe ; Vitobello, Antonio ; Thevenon, Julien ; Faivre, Laurence ; Thauvin‐Robinet, Christel

Clinical genetics, 2020-07, Vol.98 (1), p.43-55 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation
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DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation

Guerra, João V.S. ; Oliveira-Santos, José ; Oliveira, Danyllo F. ; Leal, Gabriela F. ; Oliveira, João Ricardo M. ; Costa, Silvia S. ; Krepischi, Ana C.V. ; Vianna-Morgante, Angela M. ; Maschietto, Mariana

European journal of medical genetics, 2020-03, Vol.63 (3), p.103737-103737, Article 103737 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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3
Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene
Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene
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Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene

Coursimault, Juliette ; Goldenberg, Alice ; Nicolas, Gaël ; Saugier-Veber, Pascale ; Coutant, Sophie ; Vincent, Anne ; Pouliquen, Dorothée ; Feltin, Cécile ; Aref‐Eshghi, Erfan ; Sadikovic, Bekim ; Lecoquierre, François

European journal of medical genetics, 2022-09, Vol.65 (9), p.104556-104556, Article 104556 [Periódico revisado por pares]

Elsevier Masson SAS

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4
The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C
The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C
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The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C

Niu, X ; Zhang, T ; Liao, L ; Zhou, L ; Lindner, D J ; Zhou, M ; Rini, B ; Yan, Q ; Yang, H

Oncogene, 2012-02, Vol.31 (6), p.776-786 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Caregiver‐reported characteristics of children diagnosed with pathogenic variants in KDM5C
Caregiver‐reported characteristics of children diagnosed with pathogenic variants in KDM5C
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Caregiver‐reported characteristics of children diagnosed with pathogenic variants in KDM5C

Hatch, Hayden A. M. ; O'Neil, Molly H. ; Marion, Robert W. ; Secombe, Julie ; Shulman, Lisa H.

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.2951-2958 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
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Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

Schenkel, Laila C ; Aref-Eshghi, Erfan ; Skinner, Cindy ; Ainsworth, Peter ; Lin, Hanxin ; Paré, Guillaume ; Rodenhiser, David I ; Schwartz, Charles ; Sadikovic, Bekim

Clinical epigenetics, 2018-02, Vol.10 (1), p.21-21, Article 21 [Periódico revisado por pares]

Germany: BioMed Central Ltd

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7
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures
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Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures

Poeta, Loredana ; Padula, Agnese ; Lioi, Maria Brigida ; van Bokhoven, Hans ; Miano, Maria Giuseppina

Genes, 2021-07, Vol.12 (7), p.1088 [Periódico revisado por pares]

Switzerland: MDPI AG

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8
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease
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Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease

Reis, Linda M ; Atilla, Huban ; Kannu, Peter ; Schneider, Adele ; Thompson, Samuel ; Bardakjian, Tanya ; Semina, Elena V

Genes, 2023-01, Vol.14 (1), p.216 [Periódico revisado por pares]

Switzerland: MDPI AG

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9
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
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Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Fujita, A. ; Waga, C. ; Hachiya, Y. ; Kurihara, E. ; Kumada, S. ; Takeshita, E. ; Nakagawa, E. ; Inoue, K. ; Miyatake, S. ; Tsurusaki, Y. ; Nakashima, M. ; Saitsu, H. ; Goto, Y.-i. ; Miyake, N. ; Matsumoto, N.

Clinical genetics, 2016-09, Vol.90 (3), p.276-281 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature
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KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature

Gonçalves, Thainá Fernandez ; Gonçalves, Andressa Pereira ; Fintelman Rodrigues, Natalia ; dos Santos, Jussara Mendonça ; Pimentel, Márcia Mattos Gonçalves ; Santos-Rebouças, Cíntia Barros

European journal of medical genetics, 2014-03, Vol.57 (4), p.138-144 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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