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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 3 4 Hits 1 – 20 of 64 1 “Sometimes I feel grateful…”: Experiences of the adolescent siblings of children with autism spectrum disorder in Malaysia Chu, Shin Y.; binti Kassim, Siti N. Z.; Gan, Chun H.... In: Research outputs 2014 to 2021 (2021) BASE Show details 2 Exploratory study of the musical interactions between siblings in the everyday setting ; Estudio exploratorio de las interacciones musicales entre hermanos/as en el entorno cotidiano Pérez-Moreno, Jèssica; Dosaiguas Canal, Marta In: Electronic Journal of Music in Education; NÚM. 48 (2021): REVISTA ELECTRÓNICA DE LEEME; 39-58 ; Revista Electrónica de LEEME; NÚM. 48 (2021): REVISTA ELECTRÓNICA DE LEEME; 39-58 ; 1575-9563 (2021) BASE Show details 3 The Impact of Birth Order on Language Development in Children with Autism Spectrum Disorder in Simplex Families McFayden, Tyler Christine. - : Virginia Tech, 2021 BASE Show details 4 Children with Autism Spectrum Disorder and Their Siblings as Co-Recipients of a Comic Strip Conversation Intervention: An Exploratory Study Wright, Bridget M In: http://rave.ohiolink.edu/etdc/view?acc_num=ohiou1585561598507285 (2020) BASE Show details 5 Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family Lahbib, Saida; Trabelsi, Mediha; Dallali, Hamza; Sakka, Rania; Bourourou, Rym; Kefi, Rym; Mrad, Ridha; Abdelhak, Sonia; Gaddour, Naoufel In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019) Abstract: International audience ; Studies of X-linked pedigrees were the first to identify genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD). However, some pedigrees present a huge clinical variability between the affected members. This intrafamilial heterogeneity may be due to cooccurrence of two disorders. In the present study, we describe a multiplex X-linked pedigree in which three siblings have ID, ASD and dysmorphic features but with variable severity. Through Fragile X syndrome test, we identified the full FMR1 mutation in only two males. Whole exome sequencing allowed us to identify a novel hemizygous variant (p.Gln2080_Gln2083del) in MED12 gene in two males. So, the first patient has FXS, the second has both FMR1 and MED12 mutations while the third has only the MED12 variant. MED12 mutations are implicated in several forms of X-linked ID. Family segregation and genotype-phenotype-correlation were in favor of a cooccurrence of two forms of X-linked ID. Our work provides further evidence of the involvement of MED12 in XLID. Moreover, through these results, it is noteworthy to raise awareness that intrafamilial heterogeneity in FXS multiplex families could result from the cooccurrence of multiple clinical entities involving at least two separate genetic loci. This should be taken into consideration for genetic testing and counselling in patients/families with atypical disease symptoms. Keyword: [SDV]Life Sciences [q-bio]; Autism spectrum disorder; Dual diagnosis; FMR1; Fragile X syndrome; Intellectual disability; MED12; MESH: Adolescent; MESH: Autistic Disorder; MESH: Family; MESH: Fragile X Mental Retardation Protein; MESH: Fragile X Syndrome; MESH: Genes; MESH: Genetic Association Studies; MESH: Genetic Variation; MESH: Humans; MESH: Intellectual Disability; MESH: Male; MESH: Mediator Complex; MESH: Mutation; MESH: Pedigree; MESH: Phenotype; MESH: Siblings; MESH: Whole Exome Sequencing; X-Linked URL: https://doi.org/10.1007/s11033-019-04869-6 https://hal-riip.archives-ouvertes.fr/pasteur-03565723 BASE Hide details 6 CHAPTER 8: DWIGHT READ: TOWARDS A NEW PARADIGM: FOLLOWED BY A DISCUSSION BETWEEN THE AUTHOR AND DWIGHT READ Matthey de l'Etang, Alain In: Structure and Dynamics, vol 11, iss 1 (2019) BASE Show details 7 Relationship Between Joint Attention and Language in Multiparous and Uniparous Households Manis, Hannah C. In: Undergraduate Honors Theses (2019) BASE Show details 8 The speech of an older preschool bilingual sibling's influence and impact on the language development of a younger potential bilingual infant sibling Landsberry, Lauren Inneke. - : Sydney, Australia : Macquarie University, 2019. : © 2019, 2019 BASE Show details 9 Examining a Cumulative Risk Index for Language Delay in Infants at High- and Low-Risk for Autism Nwosu, Nonye In: Psychology Dissertations (2019) BASE Show details 10 Early Behavioral and Environmental Predictors of Language Skills in Infants at High and Low Risk for Autism Spectrum Disorder Choi, Boin. - 2019 BASE Show details 11 Bilingual Development: Language Input at Home in Sequential Spanish-English Children Bermudez, Vanessa Noemy In: Master's Theses (2019) BASE Show details 12 Der Einfluss von Geschwistern auf die Zweitsprachkompetenz von bilingualen Kindern Fischer, Laura Anna. - 2019 BASE Show details 13 Parental Differential Treatment in Families with a Child with a Developmental Disability Truchon, Marie-Michele; Howe, Nina In: Exceptionality Education International (2019) BASE Show details 14 The sibling in the self: kinship and subjectivity in British Romanticism Vestri, Talia Michele. - 2018 BASE Show details 15 Gaze to faces across interactive contexts in infants at heightened risk for autism. Gangi, Devon N; Schwichtenberg, AJ; Iosif, Ana-Maria... In: Autism : the international journal of research and practice, vol 22, iss 6 (2018) BASE Show details 16 Cortical responses before 6 months of life associate with later autism. ... Lloyd-Fox, Sarah; Blasi, A; Pasco, G. - : Apollo - University of Cambridge Repository, 2018 BASE Show details 17 Desarrollo de la Teoría de la Mente entre los 5 y 6 años ; Development of Theory of Mind at five and six years old Rivas-García, S.M.; Hidalgo-Ruzzante, Natalia; Gutiérrez-García, G.. - : Aten-D, 2018 BASE Show details 18 Cortical responses before 6 months of life associate with later autism. Lloyd-Fox, Sarah; Blasi, A; Pasco, G. - : Wiley, 2018. : Eur J Neurosci, 2018 BASE Show details 19 Pragmatics, Phonological Processing, and Reading: Language Abilities in 'Unaffected' School-Aged Siblings of Children with Autism Spectrum Disorder Drumm, Ellen Elizabeth. - 2018 BASE Show details 20 The immigrant sibling: an exploration of acculturation and enculturation profiles Quan, Cindy. - 2018 BASE Show details Page: 1 2 3 4

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