المؤلفون: Tassanakijpanich N; Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA., McKenzie FJ; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; University of California, Davis, School of Medicine, Sacramento, California, USA., McLennan YA; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, California, USA., Makhoul E; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Tassone F; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Jasoliya MJ; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Romney C; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA., Petrasic IC; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; University of California, Davis, School of Medicine, Sacramento, California, USA., Napalinga K; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; MedMom Institute for Human Development, Pasig City, Philippines., Buchanan CB; Greenwood Genetic Center, Greenville, South Carolina, USA., Hagerman P; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Hagerman R; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA rjhagerman@ucdavis.edu.; Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, California, USA., Casanova EL; Department of Biomedical Sciences, University of South Carolina School of Medicine Greenville, Greenville, South Carolina, USA.

المصدر: Journal of medical genetics [J Med Genet] 2022 Jul; Vol. 59 (7), pp. 687-690. Date of Electronic Publication: 2021 Jun 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Ehlers-Danlos Syndrome*/complications , Ehlers-Danlos Syndrome*/diagnosis , Ehlers-Danlos Syndrome*/genetics , Fragile X Syndrome*/complications , Fragile X Syndrome*/genetics , Fragile X Syndrome*/pathology, Child, Preschool ; Female ; Fragile X Mental Retardation Protein/genetics ; Heterozygote ; Humans ; Male ; Phenotype ; Trinucleotide Repeat Expansion/genetics

SCR Disease Name: Ehlers-Danlos syndrome type 3

المؤلفون: Rajaratnam A; MIND Institute, University of California, Davis, Sacramento, CA, United States.; School of Medicine, Case Western Reserve University, Cleveland, OH, United States., Potter LA; MIND Institute, University of California, Davis, Sacramento, CA, United States., Biag HMB; MIND Institute, University of California, Davis, Sacramento, CA, United States., Schneider A; MIND Institute, University of California, Davis, Sacramento, CA, United States., Petrasic IC; MIND Institute, University of California, Davis, Sacramento, CA, United States.; School of Medicine, University of California, Davis, Sacramento, CA, United States., Hagerman RJ; MIND Institute, University of California, Davis, Sacramento, CA, United States.; Department of Pediatrics, University of California Davis Health, Sacramento, CA, United States.

المصدر: Frontiers in neurology [Front Neurol] 2020 Oct 30; Vol. 11, pp. 581429. Date of Electronic Publication: 2020 Oct 30 (Print Publication: 2020).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

المؤلفون: Jasoliya M; Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA 95817, USA., Bowling H; Center for Neural Science, New York University, New York, NY 10003, USA., Petrasic IC; MIND Institute, University of California, Davis, Sacramento, CA 95817, USA., Durbin-Johnson B; Department of Public Health Sciences, University of California, Davis, Davis, CA 95616, USA., Klann E; Center for Neural Science, New York University, New York, NY 10003, USA.; NYU Neuroscience Institute, New York University School of Medicine, New York, NY 10016, USA., Bhattacharya A; Center for Brain Development and Repair, Institute of Stem Cell Science and Regenerative Medicine, Bangalore 560065, India., Hagerman R; MIND Institute, University of California, Davis, Sacramento, CA 95817, USA.; Department of Pediatrics, University of California Davis, Sacramento, CA 95817, USA., Tassone F; Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA 95817, USA.; MIND Institute, University of California, Davis, Sacramento, CA 95817, USA.

المصدر: Brain sciences [Brain Sci] 2020 Jun 10; Vol. 10 (6). Date of Electronic Publication: 2020 Jun 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101598646 Publication Model: Electronic Cited Medium: Print ISSN: 2076-3425 (Print) Linking ISSN: 20763425 NLM ISO Abbreviation: Brain Sci Subsets: PubMed not MEDLINE