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在“Elsevier”中，命中：153条，耗时：0.094992 秒

1.A self-administered family history questionnaire improves identification of women who warrant referral to genetic counseling for hereditary cancer risk

作者：Tilley Jenkins Vogel^a ; ^{tjvogel@u.washington.edu} ; Kyrsten Stoops^b ; Robin L. Bennett^c ; ^{robinb@u.washington.edu} ; Margaret Miller^d ; Elizabeth M. Swisher^e ; ^{swishere@u.washington.edu}

关键词：Hereditary cancer risk ; Breast and ovarian cancer ; Lynch syndrome ; Family history questionnaire

刊名：Gynecologic Oncology

出版年：2012

2.ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling

作者：Cinzia Gellera^a ; Nicola Ticozzi^b ; Viviana Pensato^a ; Lorenzo Nanetti^a ; Alessia Castucci^a ; Barbara Castellotti^a ; Giuseppe Lauria^c ; Franco Taroni^a ; Vincenzo Silani^b ; ^d ; Caterina Mariotti^a ; ^{mariotti.c@istituto-besta.it}

关键词：Spinocerebellar ataxia type 2 ; Ataxin 2 ; ATXN2 ; Amyotrophic lateral sclerosis ; Neurodegenerative disorders ; Triplet repeats ; CAG ; Polyglutamine disorders

刊名：Neurobiology of Aging

出版年：2012

3.Comparing genetic counseling with non-genetic health care interactions: Two of a kind?

作者：Ellen Smets ; Myra van Zwieten ; Susan Michie

关键词：Genetic counseling ; Patient– ; provider communication ; Relationship ; Information ; Decision making ; Health behavior ; Emotional support ; Review

刊名：Patient Education and Counseling

出版年：2007

4.Clinical review of genetic epileptic encephalopathies

作者：Grace J. Noh ; Y. Jane Tavyev Asher ; John M. Graham Jr. ; ^{john.graham@cshs.org}

关键词：Epilepsy ; Dravet syndrome ; Rett syndrome ; Infantile spasms ; West syndrome ; Ohtahara syndrome

刊名：European Journal of Medical Genetics

出版年：2012

5.Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene

作者：Myrto Poulou^a ; Irini Fylaktou^a ; Maria Fotoulaki^b ; Emmanuel Kanavakis^a ; Maria Tzetis^a ; ^{mtzetis@med.uoa.gr}

关键词：CFTR ; Cystic fibrosis ; In silico tools ; Novel variants ; Clinical phenotype

刊名：Journal of Cystic Fibrosis

出版年：2012

6.Hereditary Gynecologic Cancers: Risk Assessment, Counseling, Testing and Management

作者：Lori L. Ballinger ; MS ^{lballinger@salud.unm.edu}

关键词：Genetic counseling ; Genetic testing ; Gynecologic cancer ; Hereditary cancers

刊名：Obstetrics and Gynecology Clinics of North America

出版年：2012

7.Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject

作者：Lorena Mosca^a ; ¹ ; Christian Lunetta^b ; ¹ ; Claudia Tarlarini^a ; Francesca Avemaria^a ; Eleonora Maestri^b ; Mario Melazzini^b ; Massimo Corbo^b ; Silvana Penco^a ; ^{Silvana.Penco@ospedaleniguarda.it}

关键词：TDP-43 mutation ; ALS ; Genetic counseling ; Phenotypic spectrum

刊名：Neurobiology of Aging

出版年：2012

8.Anxiety and depression among subjects attending genetic counseling for hereditary cancer

作者：Cathrine Bjorvatn ; Geir Egil Eide ; Berit R. Hanestad ; Odd E. Havik

关键词：Anxiety ; Depression ; Social support ; Genetic counseling ; Hereditary cancer

刊名：Patient Education and Counseling

出版年：2008

9.Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings

作者：Milena Peraita-Ezcurra^a ; ^b ; Mó ; nica Martí ; nez-Garcí ; a^a ; ^b ; Ví ; ctor L. Ruiz-Pé ; rez^b ; ^f ; Marí ; a Eugenia Sá ; nchez-Gutié ; rrez^g ; Marí ; a Fenollar-Corté ; s^d ; Camilo Vé ; lez-Monsalve^a ; ^b ; Carmen Ramos-Corrales^a ; ^b ; Ignacio Pastor^e ; Carlos Santonja^c ; Marí ; a José ; Trujillo-Tiebas^a ; ^b ; ^{mjtrujillo@fjd.es}

关键词：CVS ; Chorionic villi sample ; EMQN ; European molecular quality network ; EvC syndrome ; Ellis-van Creveld syndrome ; Hh ; Hedgehog ; QF-PCR ; Quantitative fluorescence-polymerase chain reaction ; RT - PCR ; Real time-polymerase chain reaction ; SNP ; Single nucleoti

刊名：Gene

出版年：2012

10.Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

作者：Sonia Pajares^a ; Carlos Alcalde^b ; Mª ; Luz Couce^c ; Mireia Del Toro^d ; Antonio Gonzá ; lez-Meneses^e ; Encarna Guillé ; n^f ; Mercè ; Pineda^g ; Guillem Pintos^h ; Laura Gort^a ; Mª ; José ; Coll^a ; ^{mjcoll@clinic.ub.es}

关键词：Spanish population ; Mucopolysaccharidosis IVA ; GALNS ; Mutation analysis ; Morquio A

刊名：Molecular Genetics and Metabolism

出版年：2012

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