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在“SpringerLink电子期刊”中，命中：170条，耗时：小于0.01 秒

1. Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism–Epilepsy Phenotype with Macrocephaly

作者： Maria Marchese ; Giulia Valvo ; Francesca Moro ; Federico Sicca…

关键词：Autism ; Epilepsy ; Macrocephaly ; Tripartite synapse ; Next ; generation sequencing

刊名：NeuroMolecular Medicine

出版年：2016

2. Temporal lobe connects regression and macrocephaly to autism spectrum disorders

作者： Giulia Valvo ; Sara Baldini ; Alessandra Retico…

关键词：Autism ; EEG ; Regression ; Macrocephaly ; Temporal lobe

刊名：European Child & Adolescent Psychiatry

出版年：2016

3. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

作者： Linshan Shang ; Lindsay B. Henderson ; Megan T. Cho ; Donald S. Petrey…

关键词：PPP2R5D ; Intellectual disabilities ; Whole ; exome sequencing ; De novo mutations ; Protein phosphatase ; Autism spectrum disorder

刊名：neurogenetics

出版年：2016

4. Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon

作者： Ian S. Mutchnick ; Meena A. Thatikunta ; William C. Gump…

关键词：Hydrocephalus ; Genetic ; Macrocephaly ; Neonatal

刊名：Child's Nervous System

出版年：2016

5. 3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation

作者： Tülin K?ksal ; Mehmet Gündüz ; Eda ?zayd?n ; Emine Azak

关键词：3 ; hydroxy3 ; methylglutaryl ; coenzyme A lyase ; Macrocephaly ; Left ventricular noncompaction

刊名：The Indian Journal of Pediatrics

出版年：2015

6. Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability

作者： Jonathan D. J. Labonne ; Yiping Shen ; Il-Keun Kong…

关键词：1p microdeletion ; Intellectual disability ; Delayed psychomotor development ; Craniofacial anomalies ; DAB1 ; HOOK1 ; NFIA ; DOCK7 ; DNAJC6 ; PDE4B

刊名：Molecular Cytogenetics

出版年：2016

7. Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

作者：Maria Marchese (1)
Valerio Conti (2)
Giulia Valvo (3)
Francesca Moro (1)
Filippo Muratori (4)
Raffaella Tancredi (4)
Filippo M Santorelli (1)
Renzo Guerrini (2) (3)
Federico Sicca (3)

关键词：Autism spectrum disorders ; Autism ; epilepsy phenotype ; Macrocephaly ; GLIALCAM ; PTEN

刊名：BMC Medical Genetics

出版年：2014

8. Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect

作者： Ghada M. H. Abdel-Salam ; Mohamed S. Abdel-Hamid…

关键词：Megalencephaly ; Leukoencephalopathy ; Subcortical cysts ; HEPACAM ; MLC1 ; Intrafamilial variability ; Portwine facial hemangioma with facial hemihypertrophy ; Founder effect

刊名：Metabolic Brain Disease

出版年：2016

9. Childhood acromegaly due to X-linked acrogigantism: long term follow-up

作者： Rebecca J. Gordon ; Jennifer Bell ; Wendy K. Chung ; Raphael David…

关键词：Acromegaly ; Pediatrics ; Pituitary adenomaX ; linked acrogigantism syndrome

刊名：Pituitary

出版年：2016

10. Reduction cranioplasty for macrocephaly with long-standing hydrocephalus and non-fused fontanelle in Chiari malformation type I

作者：Jong-Il Choi (1)
Eun Sang Dhong (2)
Dong-Jun Lim (1)
Sang-Dae Kim (1)

关键词：Chiari I malformation ; Hydrocephalic macrocephaly ; Bony defect ; Reduction cranioplasty ; Occipital encephalocele

刊名：Child's Nervous System

出版年：2014

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