المؤلفون: University of Alberta, St. Justine's Hospital

المصدر: A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome

المؤلفون: Jinling Hospital, China, Reproductive Medical Center of Hebei Maternity Hospital, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, The First Medical Center of Chinese People's Liberation Army General Hospital, Shengjing Hospital, First Affiliated Hospital, Sun Yat-Sen University, Reproductive & Genetic Hospital of CITIC-Xiangya, Yikon Genomics Company, Ltd, Peking University Shenzhen Hospital, The Second Hospital of Hebei Medical University, West China Second University Hospital, Second Affiliated Hospital of Wenzhou Medical University, Third Affiliated Hospital of Zhengzhou University

المساهمون: Jie Qiao, Professor

المصدر: A Multicenter Clinical Study on Embryo Selection by Using the Ploidy of Cell Free DNA in Embryo Culture Medium
Huang J, Rong L, Zeng L, Hu L, Shi J, Cai L, Yao B, Wang XX, Xu Y, Yao Y, Wang Y, Zhao J, Guan Y, Qian W, Hao G, Lu S, Liu P, Qiao J. Embryo selection through non-invasive preimplantation genetic testing with cell-free DNA in spent culture media: a protocol for a multicentre, double-blind, randomised controlled trial. BMJ Open. 2022 Jul 27;12(7):e057254. doi: 10.1136/bmjopen-2021-057254.

المؤلفون: St. Justine's Hospital

المصدر: A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS)
Dy ABC, Tassone F, Eldeeb M, Salcedo-Arellano MJ, Tartaglia N, Hagerman R. Metformin as targeted treatment in fragile X syndrome. Clin Genet. 2018 Feb;93(2):216-222. doi: 10.1111/cge.13039. Epub 2017 Sep 25.
Monyak RE, Emerson D, Schoenfeld BP, Zheng X, Chambers DB, Rosenfelt C, Langer S, Hinchey P, Choi CH, McDonald TV, Bolduc FV, Sehgal A, McBride SMJ, Jongens TA. Insulin signaling misregulation underlies circadian and cognitive deficits in a Drosophila fragile X model. Mol Psychiatry. 2017 Aug;22(8):1140-1148. doi: 10.1038/mp.2016.51. Epub 2016 Apr 19.
Gantois I, Khoutorsky A, Popic J, Aguilar-Valles A, Freemantle E, Cao R, Sharma V, Pooters T, Nagpal A, Skalecka A, Truong VT, Wiebe S, Groves IA, Jafarnejad SM, Chapat C, McCullagh EA, Gamache K, Nader K, Lacaille JC, Gkogkas CG, Sonenberg N. Metformin ameliorates core deficits in a mouse model of fragile X syndrome. Nat Med. 2017 Jun;23(6):674-677. doi: 10.1038/nm.4335. Epub 2017 May 15.

المصدر: An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)

المؤلفون: Ann & Robert H Lurie Children's Hospital of Chicago

المساهمون: Erin Rowell, Director, Fertility & Hormone Preservation & Restoration

المصدر: Gonadal Tissue Cryopreservation for Fertility Preservation in Children with a Disorder of Sex Development

المؤلفون: National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Office of Rare Diseases (ORD), National Center for Advancing Translational Sciences (NCATS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Phelan-McDermid Syndrome Foundation

المساهمون: Mustafa Sahin, Professor of Neurology, Harvard Medical School

المصدر: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Bassell J, Srivastava S, Prohl AK, Scherrer B, Kapur K, Filip-Dhima R, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Buxbaum JD, Kolevzon A, Warfield SK, Sahin M; Developmental Synaptopathies Consortium. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 May;106:24-31. doi: 10.1016/j.pediatrneurol.2020.01.006. Epub 2020 Jan 31.
Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M; Developmental Synaptopathies Consortium. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 Jan;90:37-43. doi: 10.1016/j.pediatrneurol.2018.09.008. Epub 2018 Sep 21.

المصدر: Phase II, Open-Label, Prospective Study of T Cell Receptor Alpha/Beta Depletion (A/B TCD) Peripheral Blood Stem Cell (PBSC) Transplantation for Children and Adults With Hematological Malignancies

المصدر: A Double Blind, Placebo Controlled, Fixed-Flexible Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
Daly EJ, Trivedi MH, Janik A, Li H, Zhang Y, Li X, Lane R, Lim P, Duca AR, Hough D, Thase ME, Zajecka J, Winokur A, Divacka I, Fagiolini A, Cubala WJ, Bitter I, Blier P, Shelton RC, Molero P, Manji H, Drevets WC, Singh JB. Efficacy of Esketamine Nasal Spray Plus Oral Antidepressant Treatment for Relapse Prevention in Patients With Treatment-Resistant Depression: A Randomized Clinical Trial. JAMA Psychiatry. 2019 Sep 1;76(9):893-903. doi: 10.1001/jamapsychiatry.2019.1189.
Wajs E, Aluisio L, Holder R, Daly EJ, Lane R, Lim P, George JE, Morrison RL, Sanacora G, Young AH, Kasper S, Sulaiman AH, Li CT, Paik JW, Manji H, Hough D, Grunfeld J, Jeon HJ, Wilkinson ST, Drevets WC, Singh JB. Esketamine Nasal Spray Plus Oral Antidepressant in Patients With Treatment-Resistant Depression: Assessment of Long-Term Safety in a Phase 3, Open-Label Study (SUSTAIN-2). J Clin Psychiatry. 2020 Apr 28;81(3):19m12891. doi: 10.4088/JCP.19m12891.
Ochs-Ross R, Daly EJ, Zhang Y, Lane R, Lim P, Morrison RL, Hough D, Manji H, Drevets WC, Sanacora G, Steffens DC, Adler C, McShane R, Gaillard R, Wilkinson ST, Singh JB. Efficacy and Safety of Esketamine Nasal Spray Plus an Oral Antidepressant in Elderly Patients With Treatment-Resistant Depression-TRANSFORM-3. Am J Geriatr Psychiatry. 2020 Feb;28(2):121-141. doi: 10.1016/j.jagp.2019.10.008. Epub 2019 Oct 17.
Ketterer MW, Brymer J, Rhoads K, Kraft P, Lovallo WR. Is aspirin, as used for antithrombosis, an emotion-modulating agent? J Psychosom Res. 1996 Jan;40(1):53-8. doi: 10.1016/0022-3999(95)00524-2.
Mendlewicz J, Kriwin P, Oswald P, Souery D, Alboni S, Brunello N. Shortened onset of action of antidepressants in major depression using acetylsalicylic acid augmentation: a pilot open-label study. Int Clin Psychopharmacol. 2006 Jul;21(4):227-31. doi: 10.1097/00004850-200607000-00005.
Ng QX, Ramamoorthy K, Loke W, Lee MWL, Yeo WS, Lim DY, Sivalingam V. Clinical Role of Aspirin in Mood Disorders: A Systematic Review. Brain Sci. 2019 Oct 29;9(11):296. doi: 10.3390/brainsci9110296.
Marland S, Ellerton J, Andolfatto G, Strapazzon G, Thomassen O, Brandner B, Weatherall A, Paal P. Ketamine: use in anesthesia. CNS Neurosci Ther. 2013 Jun;19(6):381-9. doi: 10.1111/cns.12072. Epub 2013 Mar 22.
Motov S, Rockoff B, Cohen V, Pushkar I, Likourezos A, McKay C, Soleyman-Zomalan E, Homel P, Terentiev V, Fromm C. Intravenous Subdissociative-Dose Ketamine Versus Morphine for Analgesia in the Emergency Department: A Randomized Controlled Trial. Ann Emerg Med. 2015 Sep;66(3):222-229.e1. doi: 10.1016/j.annemergmed.2015.03.004. Epub 2015 Mar 26.

المؤلفون: National Institute of Neurological Disorders and Stroke (NINDS)

المساهمون: Alexander Kolevzon, Clinical Director, Seaver Autism Center for Research & Treatment

المصدر: Electrophysiological Markers for Interventions in Phelan-McDermid Syndrome and Idiopathic Autism

المساهمون: Swathi Sethuram, Fellow, Division of Pediatric Endocrinology & Diabetes

المصدر: An Open Label Trial of Growth Hormone in Children and Adolescents With Phelan-McDermid Syndrome Targeting Social Withdrawal
Kolevzon A, Bush L, Wang AT, Halpern D, Frank Y, Grodberg D, Rapaport R, Tavassoli T, Chaplin W, Soorya L, Buxbaum JD. A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. Mol Autism. 2014 Dec 12;5(1):54. doi: 10.1186/2040-2392-5-54. eCollection 2014. Erratum In: Mol Autism. 2015 Jun 02;6:31. doi: 10.1186/s13229-015-0025-0.
De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL Jr, Betancur C, Buxbaum JD, Kolevzon A. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism. 2018 Apr 27;9:31. doi: 10.1186/s13229-018-0205-9. eCollection 2018.
Costales J, Kolevzon A. The therapeutic potential of insulin-like growth factor-1 in central nervous system disorders. Neurosci Biobehav Rev. 2016 Apr;63:207-22. doi: 10.1016/j.neubiorev.2016.01.001. Epub 2016 Jan 15.
Grimberg A, DiVall SA, Polychronakos C, Allen DB, Cohen LE, Quintos JB, Rossi WC, Feudtner C, Murad MH; Drug and Therapeutics Committee and Ethics Committee of the Pediatric Endocrine Society. Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency. Horm Res Paediatr. 2016;86(6):361-397. doi: 10.1159/000452150. Epub 2016 Nov 25.
Aramburo C, Alba-Betancourt C, Luna M, Harvey S. Expression and function of growth hormone in the nervous system: a brief review. Gen Comp Endocrinol. 2014 Jul 1;203:35-42. doi: 10.1016/j.ygcen.2014.04.035. Epub 2014 May 13.
Sethuram S, Levy T, Foss-Feig J, Halpern D, Sandin S, Siper PM, Walker H, Buxbaum JD, Rapaport R, Kolevzon A. A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome. Mol Autism. 2022 Jan 29;13(1):6. doi: 10.1186/s13229-022-00485-7.

المصدر: Turner Syndrome Minipuberty Study A Prospective, Descriptive Cohortstudy
Bernard V, Donadille B, Zenaty D, Courtillot C, Salenave S, Brac de la Perriere A, Albarel F, Fevre A, Kerlan V, Brue T, Delemer B, Borson-Chazot F, Carel JC, Chanson P, Leger J, Touraine P, Christin-Maitre S; CMERC Center for Rare Disease. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod. 2016 Apr;31(4):782-8. doi: 10.1093/humrep/dew012. Epub 2016 Feb 13.
Borgstrom B, Hreinsson J, Rasmussen C, Sheikhi M, Fried G, Keros V, Fridstrom M, Hovatta O. Fertility preservation in girls with turner syndrome: prognostic signs of the presence of ovarian follicles. J Clin Endocrinol Metab. 2009 Jan;94(1):74-80. doi: 10.1210/jc.2008-0708. Epub 2008 Oct 28. Erratum In: J Clin Endocrinol Metab. 2009 Apr;94(4):1478. Birgit, Borgstrom [corrected to Borgstrom, Birgit]; Julius, Hreinsson [corrected to Hreinsson, Julius]; Carsten, Rasmussen [corrected to Rasmussen, Carsten]; Maryam, Sheikhi [corrected to Sheikhi, Maryam]; Gabriel, Fried [corrected to Fried, Gabriel]; Vi.
Bryman I, Sylven L, Berntorp K, Innala E, Bergstrom I, Hanson C, Oxholm M, Landin-Wilhelmsen K. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril. 2011 Jun 30;95(8):2507-10. doi: 10.1016/j.fertnstert.2010.12.039. Epub 2011 Jan 22.
Burgoyne PS, Baker TG. Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women. J Reprod Fertil. 1985 Nov;75(2):633-45. doi: 10.1530/jrf.0.0750633.
Fechner PY, Davenport ML, Qualy RL, Ross JL, Gunther DF, Eugster EA, Huseman C, Zagar AJ, Quigley CA; Toddler Turner Study Group. Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age. J Clin Endocrinol Metab. 2006 Dec;91(12):4896-902. doi: 10.1210/jc.2006-1157. Epub 2006 Sep 12.
Huang JY, Tulandi T, Holzer H, Lau NM, Macdonald S, Tan SL, Chian RC. Cryopreservation of ovarian tissue and in vitro matured oocytes in a female with mosaic Turner syndrome: Case Report. Hum Reprod. 2008 Feb;23(2):336-9. doi: 10.1093/humrep/dem307. Epub 2007 Dec 2.
Johannsen TH, Main KM, Ljubicic ML, Jensen TK, Andersen HR, Andersen MS, Petersen JH, Andersson AM, Juul A. Sex Differences in Reproductive Hormones During Mini-Puberty in Infants With Normal and Disordered Sex Development. J Clin Endocrinol Metab. 2018 Aug 1;103(8):3028-3037. doi: 10.1210/jc.2018-00482.
Lanciotti L, Cofini M, Leonardi A, Penta L, Esposito S. Up-To-Date Review About Minipuberty and Overview on Hypothalamic-Pituitary-Gonadal Axis Activation in Fetal and Neonatal Life. Front Endocrinol (Lausanne). 2018 Jul 23;9:410. doi: 10.3389/fendo.2018.00410. eCollection 2018.
Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome. J Clin Endocrinol Metab. 1997 Jun;82(6):1810-3. doi: 10.1210/jcem.82.6.3970.
Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006 Oct;91(10):3897-902. doi: 10.1210/jc.2006-0558. Epub 2006 Jul 18.
Sutton EJ, McInerney-Leo A, Bondy CA, Gollust SE, King D, Biesecker B. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. 2005 Dec 1;139A(2):57-66. doi: 10.1002/ajmg.a.30911.

المؤلفون: Ana Kalise Böttcher, Monique Banik Siqueira, Natasha Malgarezi, Marcela Rodrigues Nunes, Rafaella Mergener, Luisa Pigatto Kalil, Patrícia Trevisan, Paulo Ricardo Gazzola Zen

المصدر: Revista Paulista de Pediatria, Vol 43 (2025)

مصطلحات موضوعية: Cardiomyopathies, Heart defects, congenital, Hypoplastic left heart syndrome, Chromosome disorders, Cytogenetic analysis, Fetal heart, Genetic diseases, inborn., Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822025000100608&lng=en&tlng=en; http://www.scielo.br/pdf/rpp/v43/1984-0462-rpp-43-e2024133.pdf; https://doaj.org/toc/1984-0462

URL الوصول: https://doaj.org/article/aab2c369a1264d6884db70ce5ae2eb97

المؤلفون: National Human Genome Research Institute (NHGRI), East Carolina University, Mission Health System, Asheville, NC

المصدر: North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
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Other URLs: http://www.med.unc.edu/ncgenes

المصدر: AnovaOS Network Powered Patient Registry

المؤلفون: Illumina, Inc.

المصدر: Cell-free DNA Analysis of Chromosome Anomalies in Early Pregnancy Loss
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ESHRE. European Society of Human Reproduction and Embryology guideline: recurrent pregnancy loss. Human Reproduction Open 2018: 1-12.

المؤلفون: Aarhus University Hospital

المصدر: Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome
Roulot D, Degott C, Chazouilleres O, Oberti F, Cales P, Carbonell N, Benferhat S, Bresson-Hadni S, Valla D. Vascular involvement of the liver in Turner's syndrome. Hepatology. 2004 Jan;39(1):239-47. doi: 10.1002/hep.20026.
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المؤلفون: Karolinska University Hospital

المساهمون: Anna Lindstrand, MD, PhD; Adjunct Professor

المصدر: Studies of Structural Chromosome Rearrangements to Identify Genes Involved in Congenital Brain Disorders

المؤلفون: Fan, Judith, Senaratne, T Niroshini, Liu, Jason Y, Bina, Michelle, Martinez-Agosto, Julian A, Quintero-Rivera, Fabiola, Wang, Jessica J

المصدر: BMC Medical Genomics. 16(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Pediatric, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Humans, Male, Female, Adult, Chromosome Deletion, Trisomy, Intellectual Disability, Chromosome Disorders, Translocation, Genetic, Chromosome Aberrations, 4q translocation, 10p translocation, Unbalanced translocation, Monosomy 4q, Monosomy 10p, Trisomy 4q, Trisomy 10p, Case report, Medical Biochemistry and Metabolomics, Oncology and Carcinogenesis, Genetics & Heredity, Medical biochemistry and metabolomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2hc7k5zw
https://escholarship.org/content/qt2hc7k5zw/qt2hc7k5zw.pdf

المؤلفون: Tzu-Rong Liu, Yi-An Kuo, Chi-Kang Lin

المصدر: Journal of Medical Sciences, Vol 44, Iss 3, Pp 137-140 (2024)

مصطلحات موضوعية: holoprosencephaly, trisomy 13 syndrome, chromosome disorders, neural tube defects, Medicine, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

وصف الملف: electronic resource

Relation: https://journals.lww.com/joms/fulltext/2024/44030/a_rare_case_of_early_diagnosed_trisomy_13_syndrome.6.aspx; https://doaj.org/toc/1011-4564; https://doaj.org/toc/2542-4939

URL الوصول: https://doaj.org/article/6b88113f14a441aeb29258e385cb0736

المؤلفون: Ye Q, Huang G, Hu Q, Man Q, Hao X, Liu L, Zhong Q, Jin Z

المصدر: International Journal of Women's Health, Vol Volume 16, Pp 563-573 (2024)

مصطلحات موضوعية: noninvasive prenatal testing, fetal chromosome disorders, high risk, twin pregnancy, performance evaluation., Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://www.dovepress.com/performance-evaluation-of-noninvasive-prenatal-testing-in-screening-ch-peer-reviewed-fulltext-article-IJWH; https://doaj.org/toc/1179-1411

URL الوصول: https://doaj.org/article/8191b409009a495db0dc4849de6ae970