| scholarly article | Q13442814 |
| P50 | author | Arnold Munnich | Q2863363 |
| Stanislas Lyonnet | Q7598948 | ||
| Jozef Gécz | Q16230617 | ||
| P2093 | author name string | L Villard | |
| P Saugier-Veber | |||
| M Fontés | |||
| J F Mattéi | |||
| P2860 | cites work | Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome) | Q24311995 |
| Cloning and characterization of a new human Xq13 gene, encoding a putative helicase | Q24314827 | ||
| X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene | Q24321498 | ||
| Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction | Q25938986 | ||
| The yeast SNF2/SWI2 protein has DNA-stimulated ATPase activity required for transcriptional activation | Q27932341 | ||
| Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3 | Q28252229 | ||
| Nucleotide excision repair. II: From yeast to mammals | Q40828389 | ||
| Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? | Q50521150 | ||
| X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus | Q55670712 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Juberg-Marsidi syndrome | Q56014367 |
| P304 | page(s) | 359-60 | |
| P577 | publication date | 1996-04-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | XNP mutation in a large family with Juberg-Marsidi syndrome | |
| P478 | volume | 12 |
| Q50329951 | A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders |
| Q35559646 | ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein |
| Q41551376 | ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing |
| Q46401592 | Aberrant calcium/calmodulin-dependent protein kinase II (CaMKII) activity is associated with abnormal dendritic spine morphology in the ATRX mutant mouse brain. |
| Q21203051 | Alpha thalassaemia-mental retardation, X linked |
| Q77976950 | Carpenter-Waziri syndrome results from a mutation in XNP |
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| Q43612908 | Cloning and characterization of the murine Imitation Switch (ISWI) genes: differential expression patterns suggest distinct developmental roles for Snf2h and Snf2l |
| Q92815447 | Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31 |
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| Q34610614 | Fruit flies and intellectual disability |
| Q42421310 | Glial and neuronal functions of the Drosophila homolog of the human SWI/SNF gene ATR-X (DATR-X) and the jing zinc-finger gene specify the lateral positioning of longitudinal glia and axons |
| Q36861284 | HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study |
| Q73120732 | Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome |
| Q41871421 | Kinases and chromatin structure: who regulates whom? |
| Q51970341 | Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21. |
| Q41575180 | Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families |
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| Q48166467 | Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome |
| Q36780903 | Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas |
| Q24532155 | Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation |
| Q51891945 | Mutations in the chromatin-associated protein ATRX. |
| Q41938609 | Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53. |
| Q51963608 | Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene. |
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| Q73013123 | X-linked mental retardation |
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| Q41127106 | XLMR genes: update 1996. |
| Q36330302 | α-Thalassemia, mental retardation, and myelodysplastic syndrome |
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