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Elsevier电子期刊(67)

在“Elsevier电子期刊”中，命中：67条，耗时：小于0.01 秒

在所有数据库中总计命中：103条

1.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

2.MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

作者：Helena Rocha^a ; ^b ; ^{helen.roch@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Mafalda Sampaio^c ; Ruben Rocha^c ; Susana Fernandes^d ; Miguel Leã ; o^c ; ^e

关键词：MEF2C ; Haploinsufficiency ; Intellectual disability ; Epilepsy ; Hyperkinesis

刊名：European Journal of Medical Genetics

出版年：2016

3.A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13

关键词：FBXL4 ; c.1442T>C ; p.Leu481Pro ; Mitochondrial disorder ; mtDNA depletion ; MTDPS13

刊名：European Journal of Medical Genetics

出版年：2016

4.7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

作者：Rossella Caselli^a ; ^{r.caselli@auxologico.it" class="auth_mail" title="E-mail the corresponding author} ; Lucia Ballarati^a ; Aglaia Vignoli^b ; Angela Peron^b ; Maria Paola Recalcati^a ; Ilaria Catusi^a ; Lidia Larizza^a ; Daniela Giardino^a

关键词：7p22.1 ; Microduplication syndrome ; Language delay ; Array-CGH

刊名：European Journal of Medical Genetics

出版年：2015

5.PP11.11 - 2673: Phelan-McDermid syndrome in two siblings with complex phenotype

作者：M. Budisteanu ; A. Tutulan-Cunita ; S.M. Papuc ; I. Focsa ; S. Vultur ; A. Arghir ; R. Grozavescu

刊名：European Journal of Paediatric Neurology

出版年：2015

6.A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome

作者：Amira Elmakky^a ; ¹ ; Diana Carli^a ; ¹ ; Licia Lugli^b ; Paola Torelli^c ; Battista Guidi^c ; Cristina Falcinelli^a ; Sergio Fini^d ; Fabrizio Ferrari^b ; Antonio Percesepe^a ; ^{percesepe.antonio@unimo.it" class="auth_mail}

关键词：Cri du chat syndrome ; array CGH

刊名：European Journal of Medical Genetics

出版年：March, 2014

7.Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

作者：Pietro Palumbo ; Vincenzo Antona ; Orazio Palumbo ; Maria Piccione ; Rosaria Nardello ; Antonina Fontana ; Massimo Carella ; Giovanni Corsello

关键词：ACACA ; Acetyl-CoA Carboxylase Alpha ; ADHD ; Attention Deficit Hyperactivity Disorder ; ASD ; Autism Spectrum Disorders ; CNTNAP2 ; Contactin associated protein-like 2 ; CNV ; Copy Number Variation ; DNA ; Deoxyribonucleic Acid ; FOXP2 ; Forkhead box P2 ; HNF1B ; Hepatocyte Nuclear Factor 1 Beta ; ID ; Intellectual disability ; LCRs ; Low Copy Repeats ; LHX1 ; LIM homeobox 1 LIM homeobox 1 ; MET ; Met proto-oncogene ; MODY5 ; Maturity Onset Diabetes of the Young type 5 ; MRKH ; Mayer-Rokitansky-Kü ; ster-Hauser-Syndrom

刊名：Gene

出版年：1 April, 2014

8.Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN)

作者：D.M. Cordelli ; C. Garone ; V. Marchiani ; R. Lodi ; C. Tonon ; S. Ferrari ; M. Seri ; E. Franzoni

关键词：Congenital cataracts ; Facial dysmorphisms ; Neuropathy ; White matter

刊名：Neuromuscular Disorders

出版年：2010

9.Behavioural phenotype of a patient with a de novo 1.2?Mb chromosome 4q25 microdeletion

作者：Willem M.A. Verhoeven^a ; ^b ; ^{wverhoeven@vvgi.nl} ; ^{wmaverhoeven@planet.nl} ; Jos I.M. Egger^a ; ^c ; ^d ; Luc Goffin^e ; Laura J.C.M. van Zutven^f ; Grazia M.S. Mancini^f

关键词：SNP array ; de novo 4q25 microdeletion ; 4q25 ; Intellectual disability ; Dysmorphic features ; Behavioural phenotype ; Neuropsychological phenotype

刊名：European Journal of Medical Genetics

出版年：2013

10.46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

作者：Tracy Brt ; Leah Blanchard ; Khyati Desai ; Saroj Nimkarn ; Ninette Cohen ; Lisa Edelmann ; Lakshmi Mehta

关键词：NR5A1 ; SF1 ; 46 ; XY disorder of sex development ; 46 ; XY DSD ; 9q33 Microdeletion

刊名：European Journal of Medical Genetics

出版年：November, 2013

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