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Natural course of IQSEC2-related encephalopathy. An Italian national structured survey

• Authors : Silvia Leoncini; Lidia Boasiako; Diego Lopergolo ...

Subjects: IQSEC2 gene; Rett syndrome; X-linked intellectual disability

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X-linked creatine transporter (SLC6A8) deficiency in females:Difficult to recognize, but a potentially treatable disease

• Authors : Mejdahl Nielsen, Malene; Petersen, Esben Thade; Fenger, Christina Dühring

Subjects: Creatine transporter deficiency; Female case report; Proton magnetic resonance spectroscopy

• Source: Mejdahl Nielsen , M , Petersen , E T , Fenger , C D , Ørngreen , M C , Siebner , H R , Boer , V O , Považan , M , Lund , A , Grønborg , S W & Hammer , T B 2023 , '

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Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

• Authors : Silvia Leoncini; Lidia Boasiako; Diego Lopergolo

Subjects: IQSEC2 gene; Rett syndrome; X-linked intellectual disability

• Source: Children; Volume 10; Issue 9; Pages: 1442

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Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase KDM5C

• Authors : Katherine M. Bonefas; Christina N. Vallianatos; Brynne Raines

Subjects: chromatin regulators; x-linked intellectual disability; learning and memory

• Source: Cells; Volume 12; Issue 4; Pages: 637

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X-linked creatine transporter (SLC6A8) deficiency in females:Difficult to recognize, but a potentially treatable disease

• Authors : Mejdahl Nielsen, Malene; Petersen, Esben Thade; Fenger, Christina Dühring

Subjects: Creatine transporter deficiency; Female case report; Proton magnetic resonance spectroscopy

• Source: Mejdahl Nielsen , M , Petersen , E T , Fenger , C D , Ørngreen , M C , Siebner , H R , Boer , V O , Považan , M , Lund , A , Grønborg , S W & Hammer , T B 2023 , '

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Natural Course of IQSEC2 -Related Encephalopathy: An Italian National Structured Survey

• Authors : Silvia Leoncini; Lidia Boasiako; Diego Lopergolo

Subjects: IQSEC2 gene; Rett syndrome; X-linked intellectual disability

• Source: Children, Vol 10, Iss 1442, p 1442 (2023)

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Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase KDM5C

• Authors : Katherine M. Bonefas; Christina N. Vallianatos; Brynne Raines

Subjects: chromatin regulators; x-linked intellectual disability; learning and memory

• Source: Cells, Vol 12, Iss 637, p 637 (2023)

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Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder

• Authors : Karin Writzl; Blaž Mavčič; Aleš Maver

Subjects: NONO; non-ossifying fibromas; left ventricular non-compaction cardiomyopathy

• Source: Frontiers in Genetics, Vol 14 (2023)

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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

• Authors : Sobering, Andrew K.; Bryant, Laura M.; Li, Dong

Subjects: epigenetic gene regulation; histone demethylation; orofacial clefting

• Source: Sobering , A K , Bryant , L M , Li , D , McGaughran , J , Maystadt , I , Moortgat , S , Graham , J M , van Haeringen , A , Ruivenkamp , C , Cuperus , R , Vogt , J , Morton , J , Brasch-Andersen , C ,

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Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations

• Authors : Carla Lintas; Irene Bottillo; Roberto Sacco

Subjects: X-linked intellectual disability; neuropsychiatric disorders; KDM5C geneagris

• Source: Genes; Volume 13; Issue 12; Pages: 2266

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