Search Results

CUX1-related neurodevelopmental disorder:deep insights into phenotype-genotype spectrum and underlying pathology

• Authors : Oppermann, Henry; Marcos-Grañeda, Elia; Weiss, Linnea A

Subjects: Adult; Animals; Humans

• Source: Oppermann , H , Marcos-Grañeda , E , Weiss , L A , Gurnett , C A , Jelsig , A M , Vineke , S H , Isidor , B , Mercier , S , Magnussen , K , Zacher , P , Hashim , M , Pagnamenta , A T , Race , S ,

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

• Authors : Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N

Subjects: Medical Clinic; Institute of Medical Genetics; Adaptive Brain Circuits in Development and Learning (AdaBD)

• Source: Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl;

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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

• Authors : Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.

Subjects: epilepsy; intellectual disability; language impairement

• Source: Christensen , M B , Levy , A M , Mohammadi , N A , Niceta , M , Kaiyrzhanov , R , Dentici , M L , Al Alam , C , Alesi , V , Benoit , V , Bhatia , K P , Bierhals , T , Boßelmann , C M , Buratti , J ,

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Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

• Authors : Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna

Subjects: Intellectual disability; Neurotransmission; Synapse

• Source: Melland , H , Bumbak , F , Kolesnik-Taylor , A , Ng-Cordell , E , John , A , Constantinou , P , Joss , S , Larsen , M , Fagerberg , C , Laulund , L W , Thies , J , Emslie , F , Willemsen , M ,

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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

• Authors : May, Halie J; Jeong, Jaehoon; Revah-Politi, Anya

Subjects: info:eu-repo/classification/ddc/618; info:eu-repo/classification/ddc/576.5; HEK293 Cells

• Source: ISSN: 1098-3600 ; Genetics in medicine, vol. 23, no. 10 (2021) p. 1912-1921.

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

• Authors : Hiatt, S.M.; Trajkova, S.; Sebastiano, M.R.

Subjects: Humans; Male; Female

• Source: American journal of human genetics, vol. 110, no. 2, pp. 215-227

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

• Authors : Elizabeth E. Palmer; Michael Pusch; Alessandra Picollo ...

Subjects: Male; DISRUPTION; Chloride Channels/genetics

• Source: Molecular Psychiatry, 28, 668-697Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)Molecular psychiatryMolecular PsychiatryMOLECULAR PSYCHIATRYCLCN4 concortium 2023,

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GRIN2A-related disorders : genotype and functional consequence predict phenotype

• Authors : Strehlow, Vincent; Heyne, Henrike O.; Vlaskamp, Danique R.M.

Subjects: Adolescent; Adult; Aged

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Zebrafish Models of Neurodevelopmental Disorders:Limitations and Benefits of Current Tools and Techniques

• Authors : Vaz, Raquel; Hofmeister, Wolfgang; Lindstrand, Anna

Subjects: Animals; Brain/growth & development; Disease Models

• Source: Vaz , R , Hofmeister , W & Lindstrand , A 2019 , ' Zebrafish Models of Neurodevelopmental Disorders : Limitations and Benefits of Current

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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

• Authors : Dias, Cristina; Estruch, Sara B; Graham, Sarah A

Subjects: Animals; Carrier Proteins/chemistry; Cerebral Cortex/metabolism

• Source: Dias , C , Estruch , S B , Graham , S A , McRae , J , Sawiak , S J , Hurst , J A , Joss , S K , Holder , S E , Morton , J E V , Turner , C , Thevenon , J , Mellul , K , Sánchez-Andrade , G ,

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