Biblio

7 resultats trouvés
Filtres: Auteur is Posey, Jennifer E.  [Clear All Filters]
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Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KMargaret, Roeder E, Littlejohn RO, Holder S, Zhu W et al..  2019.  De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome (vol 11, 12, 2019). GENOME MEDICINE. 11:16.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KMargaret, Roeder E, Littlejohn RO, Holder S, Zhu W et al..  2019.  De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. GENOME MEDICINE. 11:12.
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Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTuyet Mai, Spillmann RC, Sullivan JA, Shashi V, Jiang Y-hui, Stong N et al..  2019.  Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. AMERICAN JOURNAL OF HUMAN GENETICS. 104:164-178.
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Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogne B, Conrad S, Tenconi R et al..  2021.  Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. GENETICS IN MEDICINE. 23:1901-1911.
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, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MSanchez, Ivancevic A, Gardner A, Domingo D, Corbett M et al..  2020.  Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling. BIOLOGICAL PSYCHIATRY. 87:100-112.
Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken LD, Harris JM, Hickey SE, Mosher TM, Slavotinek A et al..  2018.  Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. 5:1277-1285.
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Kumble S, Levy AM, Punetha J, Gao H, Mew NAh, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B et al..  2022.  The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. HUMAN MUTATION. 43:266-282.