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Latest Publication and Research on Genetic Counseling
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Genetic Counseling
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Genetic Counseling
Latest Publication and Research on Genetic Counseling
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2011 Dec 3 Infantile Nephrotic Syndrome with Microcephaly and Global Developmental Delay: The Galloway Mowat Syndrome. Krishnamurthy S, Rajesh NG, Ramesh A, Zenker M Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India, drsriramk@yahoo.com. The authors present the first case of Galloway Mowat Syndrome (GMS), a rare disorder comprising of nephrotic syndrome in association with microcephaly... Read More Source: PubMed 2011 Dec 3 Counseling Adolescents and the Challenges for Genetic Counselors. Callard A, Williams J, Skirton H Wessex Clinical Genetics Service, University Hospital Southampton, NHS Foundation Trust, Southampton, UK, alice.callard@uhs.nhs.uk. Genetic counselors may have an important role in helping the adolescent make an informed decision with regard to genetic testing and in helping them t... Read More Source: PubMed 2011 Nov 17 Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome. Szakszon K, Felszeghy E, Csízy I, Józsa T, Káposzta R, Balogh E, Oláh E, Balogh I, Berényi E, Knegt AC, Ilyés I Inst. of Pediatrics, Clinical Genetics Center, University of Debrecen, Medical & Health Science Center, 4012 Debrecen, Nagyerdei krt. 98., Hungary. Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some author... Read More Source: PubMed 2011 Dec 1 Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers. Ready K, Haque IS, Srinivasan BS, Marshall JR Counsyl, Inc., Redwood City, California. OBJECTIVE: To determine women's healthcare providers' knowledge and attitudes regarding genetic disorders and expanded genetic screening. DESIGN: Surv... Read More Source: PubMed 2011 Dec 2 A follow-up study on men tested for BRCA1/BRCA2 mutations: impacts and coping processes. Shiloh S, Dagan E, Friedman I, Blank N, Friedman E Tel Aviv University, Tel Aviv, Israel. shoshi@freud.tau.ac.il. Objective: The objective of this study was to examine cognitive, emotional, and behavioral impacts of testing for germline mutations in breast/ovarian... Read More Source: PubMed 2011 Dec 2 Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors. Riley BD, Culver JO, Skrzynia C, Senter LA, Peters JA, Costalas JW, Callif-Daley F, Grumet SC, Hunt KS, Nagy RS, McKinnon WC, Petrucelli NM, Bennett RL, Trepanier AM Southeast Nebraska Cancer Center, Lincoln, NE, USA, bronsonr@leadingcancercare.com. Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramif... Read More Source: PubMed 2011 Dec 2 Diagnosis of Fragile X Syndrome: A Qualitative Study of African American Families. Visootsak J, Charen K, Rohr J, Allen E, Sherman S Department of Human Genetics, Emory University, Atlanta, GA, USA, jvisoot@emory.edu. Fragile X syndrome (FXS) is an inherited genetic condition with critical consequences to the proband and family members at all levels in the generatio... Read More Source: PubMed 2011 Dec 2 Diagnosis of Fragile X Syndrome: A Qualitative Study of African American Families. Visootsak J, Charen K, Rohr J, Allen E, Sherman S Department of Human Genetics, Emory University, Atlanta, GA, USA, jvisoot@emory.edu. Fragile X syndrome (FXS) is an inherited genetic condition with critical consequences to the proband and family members at all levels in the generatio... Read More Source: PubMed J. Biomed. Biotechnol. Proteomics in molecular diagnosis: typing of amyloidosis. Loo D, Mollee PN, Renaut P, Hill MM The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, QLD 4102, Australia. Amyloidosis is a group of disorders caused by deposition of misfolded proteins as aggregates in the extracellular tissues of the body, leading to impa... Read More Source: PubMed 2011 Nov 30 Developing my Preferred Model of Genetic Counselling. Burgess M Genetic Counsellor, Austin Health, Victoria, Australia, matthew.burgess@austin.org.au. ... Read More Source: PubMed 2011 Nov 24 Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. Pflaumer A, Davis AM The Royal Children's Hospital Melbourne, Australia; University of Melbourne, Australia. BACKGROUND: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmia syndrome, characterised by polymorphic ventricular... Read More Source: PubMed J. Biomed. Biotechnol. Proteomics in molecular diagnosis: typing of amyloidosis. Loo D, Mollee PN, Renaut P, Hill MM The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, QLD 4102, Australia. Amyloidosis is a group of disorders caused by deposition of misfolded proteins as aggregates in the extracellular tissues of the body, leading to impa... Read More Source: PubMed 2011 Nov 30 Developing my Preferred Model of Genetic Counselling. Burgess M Genetic Counsellor, Austin Health, Victoria, Australia, matthew.burgess@austin.org.au. ... Read More Source: PubMed 2011 Nov 24 Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. Pflaumer A, Davis AM The Royal Children's Hospital Melbourne, Australia; University of Melbourne, Australia. BACKGROUND: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmia syndrome, characterised by polymorphic ventricular... Read More Source: PubMed 2011 Dec 3 Infantile Nephrotic Syndrome with Microcephaly and Global Developmental Delay: The Galloway Mowat Syndrome. Krishnamurthy S, Rajesh NG, Ramesh A, Zenker M Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India, drsriramk@yahoo.com. The authors present the first case of Galloway Mowat Syndrome (GMS), a rare disorder comprising of nephrotic syndrome in association with microcephaly... Read More Source: PubMed 2011 Dec 3 Counseling Adolescents and the Challenges for Genetic Counselors. Callard A, Williams J, Skirton H Wessex Clinical Genetics Service, University Hospital Southampton, NHS Foundation Trust, Southampton, UK, alice.callard@uhs.nhs.uk. Genetic counselors may have an important role in helping the adolescent make an informed decision with regard to genetic testing and in helping them t... Read More Source: PubMed 2011 Nov 17 Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome. Szakszon K, Felszeghy E, Csízy I, Józsa T, Káposzta R, Balogh E, Oláh E, Balogh I, Berényi E, Knegt AC, Ilyés I Inst. of Pediatrics, Clinical Genetics Center, University of Debrecen, Medical & Health Science Center, 4012 Debrecen, Nagyerdei krt. 98., Hungary. Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some author... Read More Source: PubMed 2011 Dec 1 Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers. Ready K, Haque IS, Srinivasan BS, Marshall JR Counsyl, Inc., Redwood City, California. OBJECTIVE: To determine women's healthcare providers' knowledge and attitudes regarding genetic disorders and expanded genetic screening. DESIGN: Surv... Read More Source: PubMed 2011 Dec 2 A follow-up study on men tested for BRCA1/BRCA2 mutations: impacts and coping processes. Shiloh S, Dagan E, Friedman I, Blank N, Friedman E Tel Aviv University, Tel Aviv, Israel. shoshi@freud.tau.ac.il. Objective: The objective of this study was to examine cognitive, emotional, and behavioral impacts of testing for germline mutations in breast/ovarian... Read More Source: PubMed 2011 Dec 2 Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors. Riley BD, Culver JO, Skrzynia C, Senter LA, Peters JA, Costalas JW, Callif-Daley F, Grumet SC, Hunt KS, Nagy RS, McKinnon WC, Petrucelli NM, Bennett RL, Trepanier AM Southeast Nebraska Cancer Center, Lincoln, NE, USA, bronsonr@leadingcancercare.com. Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramif... Read More Source: PubMed |
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Posted by:
nagarasan
Posted on: 12/28/2009 I am Nagarasan in India. I am affected with congental myotonia from childhood. What genetic counseling is there for curing this in gene theraphy.
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