المؤلفون: Alice Traversa, Enrica Marchionni, Agnese Giovannetti, Maria L. Genovesi, Noemi Panzironi, Katia Margiotti, Giulia Napoli, Francesca Piceci Sparascio, Alessandro De Luca, Francesco Petrizzelli, Massimo Carella, Francesco Cardona, Silvia Bernardo, Lucia Manganaro, Tommaso Mazza, Antonio Pizzuti, Viviana Caputo

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

مصطلحات موضوعية: 17q12 duplication syndrome, array‐CGH, ARX, clinical exome sequencing, corpus callosum, dual diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/dc2be2928238438d93f55dee99ed9483Test

المؤلفون: Traversa, Alice, Marchionni, Enrica, Giovannetti, Agnese, Genovesi, Maria L, Panzironi, Noemi, Margiotti, Katia, Napoli, Giulia, Piceci Sparascio, Francesca, De Luca, Alessandro, Petrizzelli, Francesco, Carella, Massimo, Cardona, Francesco, Bernardo, Silvia, Manganaro, Lucia, Mazza, Tommaso, Pizzuti, Antonio, Caputo, Viviana

المساهمون: Traversa, Alice, Marchionni, Enrica, Giovannetti, Agnese, Genovesi, Maria L, Panzironi, Noemi, Margiotti, Katia, Napoli, Giulia, Piceci Sparascio, Francesca, De Luca, Alessandro, Petrizzelli, Francesco, Carella, Massimo, Cardona, Francesco, Bernardo, Silvia, Manganaro, Lucia, Mazza, Tommaso, Pizzuti, Antonio, Caputo, Viviana

مصطلحات موضوعية: ARX, 17q12 duplication syndrome, array-CGH, clinical exome sequencing, corpus callosum, dual diagnosis

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32519823; info:eu-repo/semantics/altIdentifier/wos/WOS:000539082200001; firstpage:e1336; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11573/1413909Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086178317

الإتاحة: https://doi.org/10.1002/mgg3.1336Test
http://hdl.handle.net/11573/1413909Test

المؤلفون: Agnese Giovannetti, Francesco Cardona, Maria Luce Genovesi, Enrica Marchionni, Viviana Caputo, Alice Traversa, Giulia Napoli, Lucia Manganaro, Katia Margiotti, Alessandro De Luca, Silvia Bernardo, Francesca Piceci Sparascio, Massimo Carella, Francesco Petrizzelli, Antonio Pizzuti, Tommaso Mazza, Noemi Panzironi

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, Proband, Heterozygote, lcsh:QH426-470, media_common.quotation_subject, Nonsense, Chromosome Disorders, 030105 genetics & heredity, Biology, medicine.disease_cause, Clinical Reports, corpus callosum, 03 medical and health sciences, Loss of Function Mutation, Chromosome Duplication, Genetics, medicine, Humans, Genetic Testing, Molecular Biology, Genetics (clinical), Exome sequencing, Loss function, media_common, Homeodomain Proteins, Fetus, Mutation, Clinical Report, Corpus Callosum Agenesis, Mosaicism, Infant, clinical exome sequencing, Phenotype, Pedigree, lcsh:Genetics, 030104 developmental biology, ARX, 17q12 duplication syndrome, array-CGH, dual diagnosis, Codon, Nonsense, array‐CGH, Female, Agenesis of Corpus Callosum, Chromosomes, Human, Pair 17, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd80dd13e5b9d573d5cf7f5016730752Test
http://europepmc.org/articles/PMC7434725Test

المؤلفون: Geisinger Clinic, Boston Children's Hospital, Simons Foundation

المصدر: Wes LA, Shen Y, Korn JM, Arkg DE, Mler DT, Fossdal R, Saemundsen E, Stefansson H, Ferrea MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, ChakravartA, TanzRE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autm Consortm. Assoctn between mrodeletn and mroduplatn at 16p11.2 and autm. N Engl J Med. 2008 Feb 14;358(7):667-75. do 10.1056/NEJMoa075974. Epub 2008 Jan 9.
Sons V Consortm. Sons Vartn duals Project (Sons V): a genets-fst approach to studyg autm spectrum and related neurodevelopmental dorders. Neuron. 2012 Mar 22;73(6):1063-7. do 10.1016/j.neuron.2012.02.014. Epub 2012 Mar 21.
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Malard AM, Hpolyte L, Mace A, FerrarC, Kutal Z, Andrux J, Aylward E, Barker M, Bernr R, Bouqulon S, Conus P, Delobel B, Faucett WA, Go-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Mart CL, Mann K, Martet D, Mukherjee P, RamockMB, Spence SJ, Steman KJ, Tjernagel J, Spo JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Sons V Consortm; 16p11.2 European Consortm. A 600 kb deletn syndrome at 16p11.2 leads to energy balance and neuropsychtr dorders. J Med Genet. 2012 Oct;49(10):660-8. do 10.1136/jmedgenet-2012-101203. Erratum : J Med Genet. 2014 Jul;51(7):478.
Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernr R, Go-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spo JE, Faucett WA, Mart CL, Ledbetter DH. The role of parental cogne, behavral, and motor profes clal varby duals wh chromosome 16p11.2 deletns. JAMA Psychtry. 2015 Feb;72(2):119-26. do 10.1001/jamapsychtry.2014.2147.
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT01238250Test

Other URLs: https://simonssearchlight.orgTest/