Genetic Counseling

Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. The process integrates:1. interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; 2. education about inheritance, testing, management, prevention, resources; 3. counseling to promote informed choices and adaptation to the risk or condition.

September 8, 2020
Open Access

Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer
Joaira BakkachMohcine Bennani Mechita
September 6, 2020
Open Access

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

Familial Cancer
Simone HettmerJean-Baptiste Demoulin
September 12, 2020

Resolving misalignment interference for NGS-based clinical diagnostics

Human Genetics
Che-Yu LeeHanlin Gao
September 10, 2020
Case Report

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant

American Journal of Medical Genetics. Part a
Cha Gon LeeChang-Seok Ki
September 10, 2020

Reproductive Male Partner Testing When The Female Is Identified To Be A Genetic Disease Carrier

Prenatal Diagnosis
Laurie SimoneElena Ashkinadze
September 15, 2020

Gene variant analysis of a fetus with autosomal recessive polycystic kidney disease

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Xinyou YuHuiping Zhang
September 16, 2020

Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

European Journal of Human Genetics : EJHG
Maria Luisa Di PietroMaurizio Genuardi
September 12, 2020

Implementing innovative service delivery models in genetic counseling: a qualitative analysis of facilitators and barriers

Journal of Genetic Counseling
Ambreen KhanSamantha Greenberg
September 6, 2020
Open Access

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

European Journal of Human Genetics : EJHG
Matthias Christoph BraunischJulia Hoefele
September 13, 2020
Open Access

Prenatal diagnosis and genetic counseling of low-level trisomy 9 mosaicism with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology
Chaoyun WangYanzhi Xia
September 8, 2020
Open Access

The Importance of Autopsy in Early Neonatal Death in Portugal

Acta Médica Portuguesa
Marlene MirandaHercília Guimarães
September 11, 2020
Open Access

MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals

Genomics, Proteomics & Bioinformatics
Xiaoxu YangAugust Yue Huang
September 9, 2020

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Vincenzo LupoTeresa Sevilla
September 16, 2020

Exploring empathy in genetic counseling students and new genetic counselors

Journal of Genetic Counseling
Jonica L RichardsAmy Zelenski
September 15, 2020

Results of carrier screening and prenatal diagnosis for FMR1 gene in 819 cases

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Jiao LiMinqing Li
September 18, 2020

Hirschsprung Disease - Clinical Relevance of RET Mutations

Zeitschrift für Geburtshilfe und Neonatologie
Julia Katharina WenskusKonrad Reinshagen

Sign up to follow this feed and discover related papers.

Related Feeds

AAV-based Gene Therapy

Adeno-associated virus (AAV)-based gene therapy is a biological vector that is being researched to be used as a potential therapeutic option. This gene therapy is designed to insert fragments of DNA into targeted cells to help treat diseases, such as hemophilia a. Discover the latest research on AAV-based gene therapy here.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Acute Myeloid Leukaemia & RNA

Acute myeloid leukaemia (AML) is a common hematological type of cancer. As the population ages, there has been a rise in the frequency of AML. RNA expression has been used to see if there are different genetic profiles that exist within AML and whether these may underpin the variations in survival rates. Here is the latest research on AML and RNA.

Alzheimer's Disease: Genetics

Alzheimer's disease is a chronic neurodegenerative disease. Discover genetic and epigenetic aspects of Alzheimer’s disease, including genetic markers and genomic structural variations here.

Antisense Oligonucleotides: ND

This feed focuses on antisense oligonucleotide therapies such as Inotersen, Nusinursen, and Patisiran, in neurodegenerative diseases including amyotrophic lateral sclerosis.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Breast Cancer: Risk Factors

Breast cancer is a multifactorial disease that is influenced by both environmental and genetic factors. Discover the latest research on the environmental and genetic risk factors for breast cancer here.

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

Cell-Type-Specific Viral Vectors

Viral vectors are used in biological research and therapy to deliver genetic material into cells. However, the efficiency of viral vectors varies depending on the cell type. Here is the latest research on cell-type-specific viral vectors.

Childhood Vascular Tumor: Genetics

Childhood vascular tumors are formed from cells related to blood vessels or lymph vessels. Here is the latest research on the genetics of childhood vascular tumors.

© 2020 Meta ULC. All rights reserved