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Genetic Counseling in Autistic Phenotypes

by Agnes Cristina Fett-Conte
"... ..."
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Genetic counseling to infertile patients

by Grace Bianchi, Movarekhi Md, Fmh Obstetrics, Fmh Reproductive Medicine
"... Assisted reproductive technologies (ART) have improved during the last 20 years to the point of allowing an increasing number of previously non-fertile couples to reproduce successfully. Baby Louise Brown (the first test tube baby) is now a healthy 25 years old lady. In 1978 her birth, after a succe ..."
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Assisted reproductive technologies (ART) have improved during the last 20 years to the point of allowing an increasing number of previously non-fertile couples to reproduce successfully. Baby Louise Brown (the first test tube baby) is now a healthy 25 years old lady. In 1978 her birth, after a successful in vitro fertilization (IVF) procedure in a case of fallopian tubal blockage, was saluted as a major achievement in the treatment of human infertility. Since then IVF has moved from a technology capable of bypassing mechanical obstacles by permitting the encounter of gametes in cases of tube obstruction to a much more sophisticated group of technologies that allows treatment of more severe forms of infertility. Intracytoplasmatic sperm injection (ICSI) was introduced clinically in 1991 and was coupled to even more daring techniques such as MESA (Microsurgical Epididymal Sperm Aspiration) or TESE (Testicular Sperm Extraction). These techniques revolutionized the treatment of male infertility for which up to then very little could be done. By 1995, over 20 000 children had been born worldwide by means of the ICSI technique (de Mouzon 1997). Very little formal evaluation of its possible effects on the health of the children conceived

INVITED COMMENTARY From genetic counseling to “genomic counseling”

by Kelly E. Ormond
"... Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and inter-preting the family and medical history, risk assessment, a comprehensive ..."
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Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and inter-preting the family and medical history, risk assessment, a comprehensive

Sarangi / GENETIC COUNSELING DISCOURSE THE LANGUAGE OF LIKELIHOOD IN GENETIC- COUNSELING DISCOURSE

by Srikant Sarangi
"... This article examines how genetic counselors and clients jointly negotiate possible scenar-ios (e.g., inheritability, desirability of predictive tests, uncertainty about late onsets) based on available evidence (e.g., family tree, scan results,and population risk figures).Based on an analytic philos ..."
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-fident of “no-risk ” scenarios, and yet, the discussion centers around the (un)likelihood of the genetic condition being inherited by future generations. Unlike many mainstream doctor-patient sites,genetic counseling as a clinical activity is distinctively complex, both structurally and in terms of what gets

ANGELMAN SYNDROME: ETIOLOGIES AND GENETIC COUNSELING

by Pharm Res, S Nadifi Et Al, Khalil Hamzi, Afaf Ben Itto, Sellama Nadifi, Corresponding Sellama Nadifi
"... Angelman syndrome (AS) is a neurogenetic disease involving mental retardation, dysmorphism and epilepsy. Its prevalence is 1 in 12,000. Angelman syndrome (AS) is associated with loss of function of one gene or more in the 15q11-q13 region. The mostly implicated gene is the UBE3A, subject to parental ..."
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. Keywords: Angelman syndrome, Genetic counseling, FISH, Methylation.

Construction of genetic linkage map in man using restriction fragment length polymorphisom

by David Botstein, Raymond L. White, Mark Skolnick, Ronald W. Davis - Am. J. Hum Genet
"... We describe a new basis for the construction of a genetic linkage map of the human genome. The basic principle of the mapping scheme is to develop, by recombinant DNA techniques, random single-copy DNA probes capable of detecting DNA sequence polymorphisms, when hybridized to restriction digests of ..."
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requiring direct access to a specified gene's DNA. For inherited diseases mapped in this way, linked DNA marker loci can be used predictively for genetic counseling.

Genetic Counseling Using Workflow-based EMRs

by Bo Yu , Duminda Wijesekera , ⇤ , Paulo Costa , Sharath Hiremagalore
"... Abstract-Widespread use of genetic tests for medical treatment and clinical genetic counseling-as a cost-effective treatment for an increasing number of hereditary disorders-has led to study of privacy and disclosure issues, and has compelled governments to limit disclosure of test results. To the ..."
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Abstract-Widespread use of genetic tests for medical treatment and clinical genetic counseling-as a cost-effective treatment for an increasing number of hereditary disorders-has led to study of privacy and disclosure issues, and has compelled governments to limit disclosure of test results

SEE PROFILE

by Jennifer Farmer, Barbara Bowles Biesecker, See Profile, V Brook White
"... for genetic counseling ..."
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for genetic counseling

ORIGINAL ARTICLE Is genetic counseling a stressful event?

by Karin Nordin, Afsaneh Roshanai, Cathrine Bjorvatn, Katharina Wollf, Ellen M. Mikkelsen, Ingvar Bjelland
"... Purpose. The aim of this paper was to investigate whether cancer genetic counseling could be considered as a stressful event and associated with more anxiety and/or depression compared to other cancer-related events for instance attending mammography screening or receiving a cancer diagnosis. Method ..."
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Purpose. The aim of this paper was to investigate whether cancer genetic counseling could be considered as a stressful event and associated with more anxiety and/or depression compared to other cancer-related events for instance attending mammography screening or receiving a cancer diagnosis

Recent advances in ophthalmic genetics Genetic counselling

by Barrie Jay
"... Contributed by request and dedicated to Sir Stewart Duke-Elder Considerable advances have been made in our knowledge of human genetics since Sir Stewart wrote the section on "Heredity " in his "System of Ophthalmology " (Duke-Elder, I962) just over io years ago. Many of these adv ..."
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to plan their families, the demand for genetic counselling has grown considerably in recent years. Genetic counselling is concerned both with making an accurate assessment of the genetic risk and with explaining this risk to those seeking advice. Accurate assessment of genetic risk depends firstly
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