Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.
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Antonio Novelli | Emanuele Agolini | Maria Cristina Digilio | M. Digilio | E. Agolini | A. Novelli | P. Grammatico | S. Majore | Silvia Majore | Paola Grammatico | Giulia Pascolini | G. Pascolini | Giulia Pascolini
[1] Y. Gillerot,et al. Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive , 2006, American journal of medical genetics. Part A.
[2] B. V. van Bon,et al. Mutations in MED12 cause X-linked Ohdo syndrome. , 2013, American journal of human genetics.
[3] H. Bassan,et al. Complete Sequence of a Novel Protein Containing a Femtomolar‐Activity‐Dependent Neuroprotective Peptide , 1999, Journal of neurochemistry.
[4] J. Clayton-Smith,et al. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. , 2011, American journal of human genetics.
[5] A. Goldsweig,et al. Activity-dependent neuroprotective protein: a novel gene essential for brain formation. , 2003, Brain research. Developmental brain research.
[6] I. Gozes,et al. Davunetide: Peptide therapeutic in neurological disorders. , 2014, Current medicinal chemistry.
[7] I. Gozes,et al. Subcellular localization and secretion of activity-dependent neuroprotective protein in astrocytes. , 2004, Neuron glia biology.
[8] E. Seroussi,et al. Cloning and Characterization of the Human Activity-dependent Neuroprotective Protein* , 2001, The Journal of Biological Chemistry.
[9] C. Phornphutkul,et al. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein , 2014, Journal of Medical Genetics.
[10] D. Schlessinger,et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome , 2001, Nature Genetics.
[11] Kali T. Witherspoon,et al. A SWI/SNF related autism syndrome caused by de novo mutations in ADNP , 2014, Nature Genetics.
[12] A. Jezela-Stanek,et al. Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in ADNP gene , 2016, American journal of medical genetics. Part A.
[13] Y. Sakamoto,et al. Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene , 2017, American journal of medical genetics. Part A.
[14] Kali T. Witherspoon,et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay , 2014, Nature Genetics.
[15] B. Coe,et al. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.
[16] Christopher S. Poultney,et al. Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.