A female patient with frontonasal dysplasia sequence and frontonasal encephalocele

Date

1999-10-01

Author

Balci, S
Mavili, ME
Aydın Son, Yeşim
Benli, K
Erk, Y

Metadata

Show full item record

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Item Usage Stats

53
views

0
downloads

URI

https://hdl.handle.net/11511/69357

Journal

ANNALS OF PLASTIC SURGERY

DOI

https://doi.org/10.1097/00000637-199910000-00023

Collections

Graduate School of Informatics, Article

Suggestions

OpenMETU
Core

A human carboxypeptidase E/NF-alpha 1 gene mutation in an Alzheimer's disease patient leads to dementia and depression in mice Cheng, Y.; Cawley, N. X.; Yanık, Tülin; Murthy, S. R. K.; Liu, C.; Kasikci, F.; Abebe, D.; Loh, Y. P. (2016-12-06) Patients with Alzheimer's disease (AD), a common dementia among the aging population, often also suffer from depression. This comorbidity is poorly understood. Although most forms of AD are not genetically inherited, we have identified a new human mutation in the carboxypeptidase E (CPE)/neurotrophic factor-alpha 1 (NF-alpha 1) gene from an AD patient that caused memory deficit and depressive-like behavior in transgenic mice. This mutation consists of three adenosine inserts, introducing nine amino acids, i...
A double-blind trial of essential fatty acid supplementation in patients with tardive dyskinesia Vaddadi, K. S.; Courtney, P. S.; Manku, Mehar S.; Horrobin, David F.; Gilleard, C. J. (Elsevier BV, 1989-3) This study reports the results of a trial of essential fatty acid (EFA) supplementation in psychiatric patients (predominantly schizophrenics) with movement disorders. Evidence of EFA deficiency in these patients was observed. The antidyskinetic effect of EFA supplementation was marginally significant but not clinically important. However, active treatment produced highly significant improvements in total psychopathology scores and schizophrenia subscale scores, and a significant improvement in memory.
A family genetic study of autism associated with profound mental retardation Starr, E; Kazak Berument, Sibel; Pickles, A; Tomlins, M; Bailey, A; Papanikolaou, K; Rutter, M (2001-02-01) We sought to determine if the family loading for either the broader autism phenotype or for cognitive impairment differed according to whether or not autism was accompanied by severe mental retardation. The sample comprised 47 probands with autism meeting ICD-IO criteria, as assessed by the Autism Diagnostic Interview and the Autism Diagnostic Observation Schedule. Family history interview and findings were compared with those for the higher IQ autism and Down syndrome samples in the Bolton et al. (1994) st...
A Case Study of Primary School Students’ Internet Addiction Topaloğlu, Bilge; Karahan, Engin (2021-09-01)
A pan-cancer transcriptomic study showing tumor specific alterations in central metabolism Sheraj, Ilir; Güray, N. Tülin; Banerjee, Sreeparna (2021-12-01) Recently, there has been a resurgence of interest in metabolic rewiring of tumors to identify clinically relevant genes. However, most of these studies have had either focused on individual tumors, or are too general, providing a broad outlook on overall changes. In this study, we have first curated an extensive list of genes encoding metabolic enzymes and metabolite transporters relevant to carbohydrate, fatty acid and amino acid oxidation and biosynthesis. Next, we have used publicly available transcripto...

Citation Formats

S. Balci, M. Mavili, Y. Aydın Son, K. Benli, and Y. Erk, “A female patient with frontonasal dysplasia sequence and frontonasal encephalocele,” ANNALS OF PLASTIC SURGERY, pp. 457–459, 1999, Accessed: 00, 2020. [Online]. Available: https://hdl.handle.net/11511/69357.