هشتمین سمینار کشوری مشاوره ژنتیک و نقش آن در پیشگیری از معلولیت ها، آبان ماه ۱۳۹۸

مقالات پذیرش شده در هشتمین سمینار کشوری مشاوره ژنتیک و نقش آن در پیشگیری از معلولیت ها

• بررسی علل مرگ کودکان 59-1 ماهه ناشی از ناهنجاری مادرزادی در بخش خارج بیمارستانی دانشگاه علوم پزشکی تبریز ولزوم انجام مشاوره ژنتیک

• مشاوره ویژه ژنتیک ناباروری در مردان آزواسپرمیک با اختلالات کروموزومی و حذف های جزئی در ناحیه AZF

• Repot on a Second Case of Cockayne Syndrome in Zanjan Province due to a Missense Mutation in ERCC6 Gene

• Rare P376L variant in the SR-BI gene associates with HDL dysfunction and risk of cardiovascular disease

• Associated genes with early and late onset of symptoms in patients with Charcot–Marie–Tooth disease

• DOCK8-related immunodeficiency syndrome (DIDS): novel deleterious mutations

• Role of the clinical genetic databases in a better performance of genetic counseling

• The robust bioinformatics pipeline and comprehensive clinical review of patients with genetic disorders significantly improve overall diagnosis by exome sequencing

• Diagnosis of lethal or prenatal-onset or familial coinciding recessive disorders by parental exome sequencing

• Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction

• شناسایی موتاسیون جدید (c.1006C> T) در ژن SPG20 مرتبط با سندروم Troyer

• شناسایی موتاسیون جدید در ژن AIPL1 همبسته با بیماری Leber Congeital Amaurosis

• ازدواج فامیلی و اختلالات ژنتیکی

• بایدهاونبایدهای تست های غربالگری ئوران بارداری

• بررسی وضعیت موجود تشخیص ناهنجاریهای مادرزادی با انجام سونوگرافی دردانشگاه علوم پزشکی تبریز

• نتایج 381 مورد آمنیوسنتز

• آنالیز پیوستگی لوکوس در ناشنوایان DFNB77 و DFNB37 های غیر سندرومی با وراثت اتوزومال مغلوب در استان هرمزگان

• تحلیل روابط تنظیم هیجانی ، بهزیستی روانشناختی ، ریسک فاکتورهای قلبی در بیماران مبتلا به سکته قلبی

• اثربخشی آموزش مهارت های ارتباطی بر بهبود کیفیت زندگی افراد کم بینای آرپی

• سندرم داون و آزمایشات قبل از تولد برای شناسایی آن

• اختلالات متابولیسم ارثی

• بررسی و مقایسه بیان آنزیم تلومراز در بافت سالم و بافت سرطانی پستان ها

• شناسایی جهش A1298C ژن MTHFR در مردان نابارور

• جنبه های بالینی تفسیر کلینیکال داده های WES در جمعیت ایرانی

• Expression of CAPN11 and UBQLN3 in non-obstructive azoospermia

• Investigation and Comparison of margin and tumor in breast cancer patient (lominal A) by proteomic approach

• Characterization of human papillomavirus (HPV) genotypes among patients referred to gynecology clinic, Laleh hospital, Tehran, Iran

• Carrier detection of CAH, in a consanguineous family with a deseased affected child

• The gene association between obesity and type 2 diabetes

• Determine a mutation in a daughter suffer from hydrocephalus and developmental disorder

• Cytogenetic investigation and Clinical Phenotype of patients with primary amenorrhea in Kermanshah Province, west of Iran

• Genetic Approach to Recurrent Pregnancy Loss

• New Phenotypes for Old Genes

• Effects of N-acetyl-cysteine supplementation on sperm quality, chromatin integrity and level of oxidative stress in infertile men.

• Randomized, double-blind, placebo-controlled clinical trial of choline supplementation in school-aged children with fetal alcohol spectrum disorders

• Comparison of neonatal blood glucose of diabetic mothers who took hypoglycemic drug and diabetic mothers who did not take medication at Buali Hospital 2017 – 2018

• LAMA1 gene variant associated with intellectual disability and sever myopia - a case report

• A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

• Application of multi-gene panel in juvenile-onset glaucoma: report of 2 cases with dominant & recessive inheritance

• Spinocerbellar ataxia

• Case Report of Bardet Biedl Syndrome

• The study of KCNE1 gene mutations in Iranian LQTS patients

• Maternal circulating microRNAs as non-invasive biomarkers for prenatal diagnosis of congenital heart defects

• SPINK5 and Netherton syndrome: novel deleterious mutation

• Association between four novel miRNAs polymorphisms and susceptibility to idiopathic recurrent spontaneous abortion

• Deletion 22q11.2 syndrome frequency in patients with cleft palate referred to Alzahra Hospital, Isfahan, Iran

• A Case report of Expanding the clinical spectrum of Van Maldergem Syndrome in Hasti genetic counselling centre in south Khorasan

• Genetic Consultation, Genomics Techniques and further in-vitro fertilization Strategies in families with a child involved with auto-immune hemolytic disorders

• Two variants in exon and intron 9 of LDLR gene in Iranian familial hypercholesterolemia patients

• Association of a genetic variant in Interleukin-10 gene with increased risk and inflammation associated with cervical cancer

• AMP-kinase inhibitor dorsomorphin reduces the proliferation and migration behavior of colorectal cancer cells by targeting the AKT/mTOR Pathway

• Effect of inorganic polyphosphate on microvascular endothelial permeability and its mechanism: focus on AMP kinase signaling pathway

• Association of a genetic variant in the angiopoietin-like protein 4 gene with metabolic syndrome

• Bioinformatics study and genetic counseling contribute to the diagnosis of cardiovascular disorders

• Association of A Novel Balanced Reciprocal Translocation and Recurrent Miscarriage: A Case Report

• Detection of a new pathogenic mutation on DMD gene associated with Duchene Muscular Dystrophy

• Association of heteromorphism of chromosome 9 and recurrent abortion (ultrasound diagnosed blighted ovum)

• A brief view on the role of genetic counseling in neuromuscular disease

• Phelan-McDermid syndrome presenting with developmental delays: a case reaport

• The Impotance of The Genetic Counseling

• Genetic causes of premature ovarian failure

• The role of genetic counseling in the prevention of hearing loss in Iranian patients

• Glioblastomas and Genetic Counseling

• Comparison and comparison of telomerase expression in healthy tissue and breast cancer

• A novel large exon deletion in GFAP gene, Adult Alexander disease in Iran; The first report in the world

• preferencing 4p medicnes

• Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening