Výsledky vyhledávání - "MESH: Intellectual Disability* / genetics"

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Publikováno v: Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩

International audience; Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8
https://doi.org/10.1016/j.gim.2022.05.001

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Autor: Vincenzo Salpietro1, 2 3, 140, Christine L. Dixon4, Hui Guo5, 6 140, Oscar D. Bello Stephanie Efthymiou 1, 4, Reza Maroofian1, Gali Heimer7, Lydie Burglen 8, Stephanie Valence 9, Erin Torti 10, Moritz Hacke11, Julia Rankin12, Huma Tariq1, Estelle Colin13, Vincent Procaccio13, Pasquale Striano2, 3, Kshitij Mankad15, Andreas Lieb 4, Sharon Chen16, Laura Pisani16, Conceicao Bettencourt 17, Roope Männikkö 1, Andreea Manole1, Alfredo Brusco 18, Enrico Grosso18, Giovanni Battista Ferrero19, Judith Armstrong-Moron20, Sophie Gueden21, Omer Bar-Yosef7, Michal Tzadok7, Kristin G. Monaghan10, Teresa Santiago-Sim10, Richard E. Person10, Megan T. Cho10, Rebecca Willaert10, Yongjin Yoo22, Jong-Hee Chae23, Yingting Quan6, Huidan Wu6, Tianyun Wang5, 6, Raphael A. Bernier24, Kun Xia6, Alyssa Blesson25, Mahim Jain25, Mohammad M. Motazacker26, Bregje Jaeger27, Amy L. Schneider 28, Katja Boysen28, Alison M. Muir 29, Candace T. Myers30, Ralitza H. Gavrilova31, Lauren Gunderson31, Laura Schultz-Rogers 31, Eric W. Klee31, David Dyment32, Matthew Osmond32, 33 34, Mara Parellada35, Cloe Llorente36, Javier Gonzalez-Peñas37, Angel Carracedo38, Arie Van Haeringen40, Claudia Ruivenkamp40, Caroline Nava41, Delphine Heron41, Rosaria Nardello42, Michele Iacomino43, Carlo Minetti2, Aldo Skabar44, Antonella Fabretto44, SYNAPS Study GroupMiquel Raspall-Chaure45, Michael Chez46, Anne Tsai47, Emily Fassi48, Marwan Shinawi48, John N. Constantino49, Rita De Zorzi50, Sara Fortuna 50, Fernando Kok51, Boris Keren41, Dominique Bonneau13, Murim Choi 22, Bruria Benzeev7, Federico Zara43, Heather C. Mefford29, Ingrid E. Scheffer28, Jill Clayton-Smith53, Alfons Macaya45, James E. Rothman4, Evan E. Eichler 5, Dimitri M. Kullmann 4, Henry Houlden 1, SYNAPS Study Group Michael G. Hanna1, Enrico Bugiardini1, Isabel Hostettler1, Benjamin O’Callaghan1, Alaa Khan1, Andrea Cortese1, Emer O’Connor1, Wai Y. Yau1, Thomas Bourinaris1, Rauan Kaiyrzhanov1, Viorica Chelban1, Monika Madej1, Maria C. Diana2, Maria S. Vari2, Marina Pedemonte2, Claudio Bruno2, Ganna Balagura3, Marcello Scala3, Chiara Fiorillo3, Lino Nobili3, Nancy T. Malintan4, Maria N. Zanetti4, Shyam S. Krishnakumar4, Gabriele Lignani4, James E. C. Jepson4, Paolo Broda43, Simona Baldassari43, Pia Rossi43, Floriana Fruscione43, Francesca Madia43, Monica Traverso43, Patrizia De-Marco43, Belen Pérez-Dueñas45, Francina Munell45, Yamna Kriouile57, Mohamed El-Khorassani57, Blagovesta Karashova58, Daniela Avdjieva58, Hadil Kathom58, Radka Tincheva58, Lionel Van-Maldergem59, Wolfgang Nachbauer60, Sylvia Boesch60, Antonella Gagliano61, Elisabetta Amadori62, Jatinder S. Goraya63, Tipu Sultan64, Salman Kirmani65, Shahnaz Ibrahim66, Farida Jan66, Jun Mine67, Selina Banu68, Pierangelo Veggiotti69, Gian V. Zuccotti69, Michel D. Ferrari70, Arn M. J. Van Den Maagdenberg70, Alberto Verrotti71, Gian L. Marseglia72, Salvatore Savasta72, Miguel A. Soler73, Carmela Scuderi74, Eugenia Borgione74, Roberto Chimenz75, Eloisa Gitto75, Valeria Dipasquale75, Alessia Sallemi75, Monica Fusco75, Caterina Cuppari75, Maria C. Cutrupi75, Martino Ruggieri76, Armando Cama77, Valeria Capra77, Niccolò E. Mencacci78, Richard Boles79, Neerja Gupta80, Madhulika Kabra80, Savvas Papacostas81, Eleni Zamba-Papanicolaou81, Efthymios Dardiotis82, Shazia Maqbool83, Nuzhat Rana84, Osama Atawneh85, Shen Y. Lim86, Farooq Shaikh87, George Koutsis88, Marianthi Breza88, Domenico A. Coviello89, Yves A. Dauvilliers90, Issam AlKhawaja91, Mariam AlKhawaja92, Fuad Al-Mutairi93, Tanya Stojkovic94, Veronica Ferrucci, Massimo Zollo, Fowzan S. Alkuraya96, Maria Kinali97, Hamed Sherifa98, Hanene Benrhouma99, Ilhem B. Y. Turki99, Meriem Tazir100, Makram Obeid101, Sophia Bakhtadze102, Nebal W. Saadi103, Maha S. Zaki104, Chahnez C. Triki105, Fabio Benfenati106, Stefano Gustincich106, Majdi Kara107, Vincenzo Belcastro108, Nicola Specchio109, Giuseppe Capovilla110, Ehsan G. Karimiani111, Ahmed M. Salih112, Njideka U. Okubadejo113, Oluwadamilola O. Ojo113, Olajumoke O. Oshinaike113, Olapeju Oguntunde113, Kolawole Wahab114, Abiodun H. Bello114, Sanni Abubakar115, Yahaya Obiabo116, Ernest Nwazor117, Oluchi Ekenze118, Uduak Williams119, Alagoma Iyagba120, Lolade Taiwo121, Morenikeji Komolafe122, Konstantin Senkevich123, Chingiz Shashkin124, Nazira Zharkynbekova125, Kairgali Koneyev126, Ganieva Manizha127, Maksud Isrofilov127, Ulviyya Guliyeva128, Kamran Salayev129, Samson Khachatryan130, Salvatore Rossi131, Gabriella Silvestri131, Nourelhoda Haridy132, Luca A. Ramenghi133, Georgia Xiromerisiou134, Emanuele David135, Mhammed Aguennouz136, Liana Fidani137, Cleanthe Spanaki138, Arianna Tucci139

Publikováno v: NATURE COMMUNICATIONS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), ⟨10.1038/s41467-019-10910-w⟩
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-10910-w⟩
Nature Communications, 10. NATURE PUBLISHING GROUP
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders het

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::022ec99bd5d7b4a4f2851b3102b472a6
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16420

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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Autor: Yannis Duffourd, Chantal Missirian, Dominique P. Germain, Jacques Puechberty, Damien Sanlaville, Christine Coubes, Tiffany Busa, Laurent Villard, Jérémie Mortreux, Hélène Tevissen, Nicole Philip, Pierre Cacciagli, Vincent Gatinois, JM Pinard, Gwenaël Nadeau

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩

IF 3.636 (2017); International audience; IntroductionA large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome sequencing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc4050887dd2c05681d859a76ad8896
https://hal-amu.archives-ouvertes.fr/hal-01668647/document

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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Publikováno v: European Journal of Human Genetics, 25(1), 43-51. Nature Publishing Group
European Journal of Human Genetics, 25, 43-51
European journal of human genetics: EJHG
European journal of human genetics: EJHG, Nature, 2016, 25 (1), pp.43-51. 〈http://www.nature.com/ejhg/index.html〉. 〈10.1038/ejhg.2016.133〉
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European journal of human genetics
European Journal of Human Genetics, 25, 1, pp. 43-51

Item does not contain fulltext Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be171334f26bc8f01ed43d594d5f8c5
https://research.rug.nl/en/publications/daa8a5f7-967c-43ac-87f6-c19664c6accc

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Identification of an HMGB3 Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing

Autor: Raquel Pittiglio, Beth A. Marosy, Ethylin Wang Jabs, P Calvas, Nicolas Chassaing, Roxann G. Ingersoll, Jill A. Barton, Alan F. Scott, David W. Mohr, Shreya S. Prabhu, Thomas H. Roderick, William C. Bromley, Brian Craig, Laura Kasch, Kimberly F. Doheny

Publikováno v: JAMA Ophthalmology
JAMA Ophthalmology, American Medical Association 2014, 132 (10), pp.1215. ⟨10.1001/jamaophthalmol.2014.1731⟩

International audience; Importance: Microphthalmias are rare disorders whose genetic bases are not fully understood. HMGB3 is a new candidate gene for X-linked forms of this disease.Objective: To identify the causative gene in a pedigree with an X-li

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::485582e5d8fe88c73552beb129ca692f
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03240874

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Les mutations du gène TMEM240 provoquent l'ataxie spinocérébelleuse 21 avec un retard mental et des troubles cognitifs sévères

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2014, 137 (10), pp.2657-2663. ⟨10.1093/brain/awu202⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (10), pp.2657-2663. ⟨10.1093/brain/awu202⟩

International audience; Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::26c916745d00b3244409eb6269a2f1f0
https://www.hal.inserm.fr/inserm-03017555/file/Delplanque.Brain.2014.Author.version.pdf

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Les mutations du gène TMEM240 provoquent l'ataxie spinocérébelleuse 21 avec un retard mental et des troubles cognitifs sévères

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (10), pp.2657-2663. ⟨10.1093/brain/awu202⟩

Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar atax

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46a1d5f8e38737563e0f965e51f7d01
https://www.hal.inserm.fr/inserm-03017555/file/Delplanque.Brain.2014.Author.version.pdf

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Distal 10q monosomy: New evidence for a neurobehavioral condition?

Autor: Plaisancié, Julie, Bouneau, Laurence, Cances, Claude, Garnier, Christelle, Benesteau, Jacques, Leonard, Samantha, Bourrouillou, Georges, Calvas, Patrick, Vigouroux, Adeline, Julia, Sophie, Bieth, Eric

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2014, 57 (1), pp.47-53. ⟨10.1016/j.ejmg.2013.11.002⟩

International audience; Pure distal monosomy of the long arm of chromosome 10 is a rare cytogenetic abnormality. The location and size of the deletions described in this region are variable. Nevertheless, the patients share characteristic facial appe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::64e81a7c5ce48a5db091e72de202bfa8
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03474040

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Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus

Autor: Dahmani M. Fathallah, William S. Sly, Denis Lepaslier, Koussay Dellagi, Mohamed Bejaoui, Khelifa Chater

Publikováno v: Human Genetics
Human Genetics, Springer Verlag, 1997, 99 (5), pp.634-637. ⟨10.1007/s004390050419⟩

International audience; A splice junction mutation at the exon 2 – intron 2 boundary of the carbonic anhydrase II (CA II) gene was previously shown to be the unique mutation underlying the CA II deficiency syndrome in patients of Arab descent. Four

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e92f41f4c04b9a4908c7c3afd593e584
https://hal-riip.archives-ouvertes.fr/pasteur-02042353

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