搜索页_+X-linked+intellectual+disability

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在“Elsevier电子期刊”中，命中：111条，耗时：0.0189773 秒

在所有数据库中总计命中：176条

1.Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

作者：Ilse M. van der Werf^a ; Anke Van Dijck^a ; Edwin Reyniers^a ; Cé ; line Helsmoortel^a ; Ajay Anand Kumar^a ; Vera M. Kalscheuer^b ; Arjan PM de Brouwer^c ; Tjitske Kleefstra^c ; Hans van Bokhoven^c ; Geert Mortier^a ; Sandra Janssens^d ; Geert Vandeweyer^a ; R. Frank Kooy^a ; ^{Frank.Kooy@uantwerpen.be}

关键词：ADID ; autosomal dominant intellectual disability ; ARID ; autosomal recessive intellectual disability ; CADD ; Combined Annotation Dependent Depletion ; cDNA ; complementary deoxyribonucleic acid ; DNA ; deoxyribonucleic acid ; ExAC ; Exome Aggregation Consortium ; GRCh37/hg19 ; human genome build 19 ; HEK293 ; human embryonic kidney cells 293 ; ICD-10 ; 10th revision of the International Statistical Classification of Diseases and Related Health Problems ; ID ; intellectual disability ; IQ ; intelligence quotient

刊名：Gene

出版年：2017

2.Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

作者：Kezhi Yan¹ ; ¹⁷ ; Justine Rousseau² ; ¹⁷ ; Rebecca Okashah Littlejohn³ ; Courtney Kiss⁴ ; Anna Lehman⁵ ; Jill A. Rosenfeld⁶ ; Constance T.R. Stumpel⁷ ; Alexander P.A. Stegmann⁷ ; Laurie Robak⁶ ; Fernando Scaglia⁶ ; Thi Tuyet Mai Nguyen² ; He Fu² ; Norbert F. Ajeawung² ; Maria Vittoria Camurri² ; Lin Li¹ ; Alice Gardham⁸ ; Bianca Panis⁹ ; Mohammed Almannai⁶ ; Maria J. Guillen Sacoto¹⁰ ; Berivan Baskin¹⁰ ; Claudia Ruivenkamp¹¹ ; Fan Xia⁶ ; Weimin Bi⁶ ; DDD Study¹²

关键词：developmental disorder ; intellectual disability ; epigenetic regulator ; bromodomain ; BRPF2 ; PHD finger ; PWWP domain ; PZP domain ; histone acetylation

刊名：The American Journal of Human Genetics

出版年：2017

3.A necessary evil: Residential placement of people with intellectual disability among the Palestinian minority in Israel

作者：Kareem Nasser^a ; ^{kareemnas@mli.org.il} ; Dalia Sachs^a ; Amalia Sa'ar^b

关键词：Intellectual disability ; Residential placement ; Parenting roles and values ; Culturally-competent services

刊名：Research in Developmental Disabilities

出版年：2017

4.Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

作者：Tamara Paff¹ ; ² ; ³ ; ⁸ ; Niki T. Loges⁴ ; ⁸ ; Isabella Aprea⁴ ; Kaman Wu⁵ ; Zeineb Bakey⁵ ; Eric G. Haarman² ; Johannes M.A. Daniels¹ ; Erik A. Sistermans³ ; Natalija Bogunovic⁶ ; Gerard W. Dougherty⁴ ; Inga M. Hö ; ben⁴ ; Jö ; rg Groß ; e-Onnebrink⁴ ; Anja Matter⁴ ; Heike Olbrich⁴ ; Claudius Werner⁴ ; Gerard Pals³ ; Miriam Schmidts⁵ ; ⁷ ; ⁸ ; Heymut Omran⁴ ; ⁸ ; Dimitra Micha³ ; ⁸ ; ^{d.micha@vumc.nl}

刊名：The American Journal of Human Genetics

出版年：2017

5.Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity

作者：Sophie Lambert^a ; ^b ; Isabelle Maystadt^b ; ^c ; Sé ; bastien Boulanger^b ; Pascal Vrielynck^d ; Anne Destré ; e^b ; Damien Lederer^b ; Sté ; phanie Moortgat^b ; ^{stephanie.moortgat@ipg.be" class="auth_mail" title="E-mail the corresponding author}

关键词：X-linked intellectual disability ; MECP2 gene ; Rett syndrome ; Angelman-like phenotype ; PPM-X syndrome

刊名：European Journal of Medical Genetics

出版年：2016

6.Implantation of a Left Ventricular Assist Device for Danon Cardiomyopathy

作者：Hiroto Kitahara ; MD^a ; Kan Nawata ; MD^a ; ^{nawataka-sur@h.u-tokyo.ac.jp} ; Osamu Kinoshita ; MD^a ; Yoshifumi Itoda ; MD^a ; Yukako Shintani ; MD^b ; Masashi Fukayama ; MD^b ; Minoru Ono ; MD^a

刊名：The Annals of Thoracic Surgery

出版年：2017

7.The X-Linked-Intellectual-Disability-Associated Ubiquitin Ligase Mid2 Interacts with Astrin and Regulates Astrin Levels to Promote Cell Division

作者：Ankur A. Gholkar¹ ; Silvia Senese¹ ; Yu-Chen Lo¹ ; ² ; Edmundo Vides¹ ; Ely Contreras¹ ; Emmanuelle Hodara¹ ; Joseph Capri³ ; Julian P. Whitelegge³ ; ⁴ ; ⁵ ; Jorge Z. Torres¹ ; ⁴ ; ⁵ ; ^{torres@chem.ucla.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Mid2 ; astrin ; X-linked intellectual disability ; cell division ; cytokinesis

刊名：Cell Reports

出版年：2016

8.Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome

作者：Mira Kharbanda^a ; ^{mira.kharbanda@ggc.scot.nhs.uk" class="auth_mail" title="E-mail the corresponding author} ; Kaja Kannike^b ; Anne Lampe^c ; Jonathan Berg^d ; Tõ ; nis Timmusk^b ; Mari Sepp^b

关键词：TCF4 ; Non-syndromic intellectual disability ; Pitt-Hopkins syndrome ; Alternative transcription

刊名：European Journal of Medical Genetics

出版年：2016

9.Two male sibs with severe micrognathia and a missense variant in MED12

作者：Trine E. Prescott^a ; ^{prescott@online.no" class="auth_mail" title="E-mail the corresponding author} ; Mari Ann Kulseth^a ; Ketil R. Heimdal^a ; Barbro Stadheim^a ; Einar Hopp^b ; Tomasz Gambin^c ; ^d ; Zeynep H. Coban Akdemir^c ; Shalini N. Jhangiani^c ; ^e ; Donna M. Muzny^c ; ^e ; Richard A. Gibbs^c ; ^e ; James R. Lupski^c ; ^e ; ^f ; ^g ; Asbjø ; rg Stray-Pedersen^c ; ^h

关键词：MED12 ; Intellectual disability ; X-linked ; Mental retardation ; Micrognathia

刊名：European Journal of Medical Genetics

出版年：2016

10.Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement

作者：Luigi Laino^a ; ^{luigi.laino@uniroma1.it" class="auth_mail" title="E-mail the corresponding author} ; Irene Bottillo^a ; Caterina Piedimonte^b ; Laura Bernardini^c ; Barbara Torres^c ; Barbara Grammatico^a ; Simone Bargiacchi^a ; Claudia Mulargia^a ; Mauro Calvani^d ; Francesco Cardona^b ; Marco Castori^a ; Paola Grammatico^a

关键词：Duplication ; Facial dysmorphism ; Intragenic ; IL1RAPL1 ; X-linked intellectual disability

刊名：European Journal of Paediatric Neurology

出版年：2016

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