Works matching DE "HUMAN chromosome abnormality diagnosis"

Results: 2098

Ascending the learning curve – MSI testing experience of a six-laboratory consortium.

Published in:

Cancer Biomarkers, 2006, v. 2, n. 1/2, p. 5, doi. 10.3233/CBM-2006-21-202

By:

Lindor, Noralene M.;
Smalley, Reginia;
Barker, Melissa;
Bigler, Jeannette;
Krumroy, Lisa M.;
Lum-Jones, Annette;
Plummer, Sarah J.;
Selander, Teresa;
Thomas, Sushma;
Youash, Michelle;
Seminara, Daniela;
Casey, Graham;
Bapat, Bharati;
Thibodeau, Stephen N.

Publication type:

Article

BRCA1/2 mutations and triple negative breast cancers.

Published in:

Breast Disease, 2011, v. 32, n. 1/2, p. 25

By:

Eng-Wong, Jennifer;
Zujewski, Jo Anne;
Peshkin, Beth N.;
Alabek, Michelle L.;
Isaacs, Claudine

Publication type:

Article

Psychosocial and Behavioral Impact of Genetic Counseling and Testing.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 97

By:

Peshkin, Beth N.;
Vadaparampil, Susan Thomas;
Miree, Cheryl A.;
Wilson, Crystal;
Jacobsen, Paul. B.

Publication type:

Article

International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 109

By:

Peshkin, Beth N.;
Meiser, Bettina;
Gaff, Clara;
Julian-Reynier, Claire;
Biesecker, Barbara B.;
Esplen, Mary Jane;
Vodermaier, Andrea;
Tibben, Aad

Publication type:

Article

Life After BRCA1/2 Testing: Family Communication and Support Issues.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 127

By:

Peshkin, Beth N.;
DeMarco, Tiffani A.;
McKinnon, Wendy C.

Publication type:

Article

A Principle-Based Approach to Ethical Issues in Predictive Genetic Testing for Breast Cancer.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 137

By:

Peshkin, Beth N.;
Quillin, John M.;
Lyckholm, Laurie J.

Publication type:

Article

Genetics and the Young Woman with Breast Cancer.

Published in:

Breast Disease, 2005, v. 23, n. 1, p. 17

By:

Evans, James P.;
Skrzynia, Cécile;
Susswein, Lisa;
Harlan, Megan

Publication type:

Article

Surgical Treatment Options in Young Women with Breast Cancer.

Published in:

Breast Disease, 2005, v. 23, n. 1, p. 37

By:

Black, Dalliah;
Smith, Barbara L.

Publication type:

Article

Informed Consent for BRCA1 and BRCA2 Testing.

Published in:

Breast Disease, 1998, v. 10, n. 1/2, p. 99, doi. 10.3233/BD-1998-101-212

By:

Rimer, Barbara K.;
Sugarman, Jeremy;
Winer, Eric;
Bluman, Leslie G.;
Lerman, Caryn

Publication type:

Article

Genetic Testing for the BRCA1 Gene and the Need for Protection from Discrimination: An Evolving Legislative and Social Issue.

Published in:

Breast Disease, 1998, v. 10, n. 1/2, p. 127, doi. 10.3233/BD-1998-101-214

By:

Dressler, Lynn

Publication type:

Article

CYP2D6 Testing for Breast Cancer Patients: Is There More to the Story?

Published in:

Oncology (08909091), 2009, v. 23, n. 14, p. 1236

By:

Henry, N. Lynn

Publication type:

Article

Clinical Selection of Candidates for Mutational Testing for Cancer Susceptibility.

Published in:

Oncology (08909091), 2006, v. 20, p. 29

By:

Lynch, Henry T.;
Lynch, Patrick M.

Publication type:

Article

Does Genetic Testing Really Improve the Prediction of Future Type 2 Diabetes?

Published in:

2006

By:

Janssens, A. Cecile J. W.;
Gwinn, Marta;
Subramonia-Iyer, Subramony;
Khoury, Muin J.

Publication type:

Letter

The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 1, p. 243, doi. 10.1007/s10815-020-01986-1

By:

Cheng, Dehua;
Yuan, Shimin;
Hu, Liang;
Yi, Duo;
Luo, Keli;
Gong, Fei;
Lu, Changfu;
Lu, Guangxiu;
Lin, Ge;
Tan, Yue-Qiu

Publication type:

Article

Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 11, p. 2853, doi. 10.1007/s10815-020-01926-z

By:

Luo, Geng;
Zhu, Lixia;
Liu, Zhenxing;
Yang, Xue;
Xi, Qingsong;
Li, Zhou;
Duan, Jinliang;
Jin, Lei;
Zhang, Xianqin

Publication type:

Article

Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 2, p. 437, doi. 10.1007/s10815-019-01653-0

By:

Lin, Jing;
Xu, Hua;
Chen, Biaobang;
Wang, Wenjing;
Wang, Lei;
Sun, Xiaoxi;
Sang, Qing

Publication type:

Article

Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 8, p. 1539, doi. 10.1007/s10815-019-01499-6

By:

Robbins, Sarah M.;
Thimm, Matthew A.;
Valle, David;
Jelin, Angie C.

Publication type:

Article

Novel mutation in the ZP1 gene and clinical implications.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 4, p. 741, doi. 10.1007/s10815-019-01404-1

By:

Yuan, Ping;
Li, Ruiqi;
Li, Di;
Zheng, Lingyan;
Ou, Songbang;
Zhao, Haijing;
Zhang, Qingxue;
Wang, Wenjun

Publication type:

Article

Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 4, p. 727, doi. 10.1007/s10815-018-1392-1

By:

Zeevi, David A.;
Zahdeh, Fouad;
Kling, Yehuda;
Carmi, Shai;
Altarescu, Gheona

Publication type:

Article

Preimplantation genetic diagnosis versus prenatal diagnosis—decision-making among pregnant FMR1 premutation carriers.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 11, p. 2071, doi. 10.1007/s10815-018-1293-3

By:

Haham, Lilach Marom;
Avrahami, Inbal;
Domniz, Noam;
Ries-Levavi, Liat;
Berkenstadt, Michal;
Orvieto, Raoul;
Cohen, Yoram;
Elizur, Shai E.

Publication type:

Article

The effects of different laser pulse lengths on the embryo biopsy procedure and embryo development to the blastocyst stage.

Published in:

Journal of Assisted Reproduction & Genetics, 2010, v. 27, n. 11, p. 663, doi. 10.1007/s10815-010-9461-0

By:

Taylor, Tyl;
Gilchrist, Janice;
Hallowell, Susan;
Hanshew, Kelly;
Orris, John;
Glassner, Michael;
Wininger, J.

Publication type:

Article

The single cell as a tool for genetic testing: credibility, precision, implication.

Published in:

Journal of Assisted Reproduction & Genetics, 2010, v. 27, n. 6, p. 335, doi. 10.1007/s10815-010-9396-5

By:

Dotan, Keren;
Feldman, Baruch;
Goldman, Boleslaw;
Peri, Yehuda;
Peleg, Leah

Publication type:

Article

Quantitative decision-making in preimplantation genetic (aneuploidy) screening (PGS).

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 9/10, p. 487, doi. 10.1007/s10815-009-9352-4

By:

Summers, Michael C.;
Foland, Andrew D.

Publication type:

Article

Preimplantation genetic diagnosis: present and future.

Published in:

Journal of Assisted Reproduction & Genetics, 2007, v. 24, n. 6, p. 201, doi. 10.1007/s10815-007-9112-2

By:

Fragouli, Elpida

Publication type:

Article

Birth after transfer of frozen-thawed vitrified biopsied blastocysts.

Published in:

Journal of Assisted Reproduction & Genetics, 2007, v. 24, n. 4, p. 147, doi. 10.1007/s10815-006-9094-5

By:

Parriego, M.;
Solé, M.;
Aurell, R.;
Barri, P. N.;
Veiga, A.

Publication type:

Article

Factors affecting mothers’ knowledge of genetic screening.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2004, v. 44, n. 1, p. 30, doi. 10.1111/j.1479-828X.2004.00171.x

By:

Suriadi, Christine;
Jovanovska, Mirjana;
Quinlivan, Julie A.

Publication type:

Article

GTG Celebrates Win Over Applera.

Published in:

Bio-IT World, 2006, v. 5, n. 1, p. 10

By:

O'Neill, Graeme

Publication type:

Article

Roche Makes Waves with AmpliChip Launch.

Published in:: 2003
Publication type:: Product Review

Probabilistic reasoning with a Bayesian DNA device based on strand displacement.

Published in:

Natural Computing, 2014, v. 13, n. 4, p. 549, doi. 10.1007/s11047-013-9406-5

By:

Sainz de Murieta, Iñaki;
Rodríguez-Patón, Alfonso

Publication type:

Article

Familial breast and ovarian cancers.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 270, doi. 10.1007/s10147-004-0423-3

By:

Arai, Masami;
Utsunomiya, Joji;
Miki, Yoshio

Publication type:

Article

Comprehensive genetics clinic for familial tumors: proposal for a suitable system in Japan.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 304, doi. 10.1007/s10147-004-0405-5

By:

Fukushima, Yoshimitsu;
Sakurai, Akihiro

Publication type:

Article

Molecular genetic diagnosis of familial tumors.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 246, doi. 10.1007/s10147-004-0421-5

By:

Tomita, Naohiro;
Oto, Michiei

Publication type:

Article

Characterization of the Rate of Aortic Dilation in Young Patients with Thoracic Aortic Aneurysm.

Published in:

Pediatric Cardiology, 2021, v. 42, n. 1, p. 148, doi. 10.1007/s00246-020-02464-2

By:

Wheeler, Adam P.;
Yang, Ziyi;
Cordes, Timothy M.;
Markham, Larry W.;
Landis, Benjamin J.

Publication type:

Article

A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1 (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 86, doi. 10.1002/humu.10224

By:

M.C. Southey;
A. Tesoriero;
M.A. Young;
A. J. Holloway;
M.A. Jenkins;
J. Whitty;
S. Misfud;
kConFab;
S.A. McLachlan

Publication type:

Article

A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1Communicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 86, doi. 10.1002/humu.10224

By:

M.C. Southey;
A. Tesoriero;
M.A. Young;
A. J. Holloway;
M.A. Jenkins;
J. Whitty;
S. Misfud;
kConFab;
S.A. McLachlan;
D.J. Venter;
J.E. Armes

Publication type:

Article

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.

Published in:

International Journal of Legal Medicine, 2011, v. 125, n. 4, p. 565, doi. 10.1007/s00414-011-0572-7

By:

Allegue, Catarina;
Gil, Rocio;
Blanco-Verea, Alejandro;
Santori, Montserrat;
Rodríguez-Calvo, Marisol;
Concheiro, Luis;
Carracedo, Ángel;
Brion, María

Publication type:

Article

Prospective Mutation Screening of Three Common Deafness Genes in a Large Taiwanese Cohort with Idiopathic Bilateral Sensorineural Hearing Impairment Reveals a Difference in the Results between Families from Hospitals and Those from Rehabilitation Facilities

Published in:

Audiology & Neurotology, 2008, v. 13, n. 3, p. 172, doi. 10.1159/000112425

By:

Wu, Chen-Chi;
Chen, Pei-Jer;
Chiu, Yu-Hsun;
Lu, Ying-Chang;
Wu, Ming-Chueh;
Hsu, Chuan-Jen

Publication type:

Article

FOLD: a method to optimize power in meta-analysis of genetic association studies with overlapping subjects.

Published in:

Bioinformatics, 2017, v. 33, n. 24, p. 3947, doi. 10.1093/bioinformatics/btx463

By:

Kim, Emma E.;
Seunghoon Lee;
Cue Hyunkyu Lee;
Hyunjung Oh;
Kyuyoung Song;
Buhm Han

Publication type:

Article

ROAST: rotation gene set tests for complex microarray experiments.

Published in:

Bioinformatics, 2010, v. 26, n. 17, p. 2176, doi. 10.1093/bioinformatics/btq401

By:

Di Wu;
Lim, Elgene;
Vaillant, François;
Asselin-Labat, Marie-Liesse;
Visvader, Jane E.;
Smyth, Gordon K.

Publication type:

Article

Testing multiple gene interactions by the ordered combinatorial partitioning method in case–control studies.

Published in:

Bioinformatics, 2010, v. 26, n. 15, p. 1871, doi. 10.1093/bioinformatics/btq290

By:

Xing Hua;
Han Zhang;
Hong Zhang;
Yaning Yang;
Kuk, Anthony Y. C.

Publication type:

Article

CORNA: testing gene lists for regulation by microRNAs.

Published in:

Bioinformatics, 2009, v. 25, n. 6, p. 832, doi. 10.1093/bioinformatics/btp059

By:

X. Wu;
M Watson

Publication type:

Article

Testing significance relative to a fold-change threshold is a TREAT.

Published in:

Bioinformatics, 2009, v. 25, n. 6, p. 765, doi. 10.1093/bioinformatics/btp053

By:

Davis J. McCarthy;
Gordon K. Smyth

Publication type:

Article

Interferon-inducible antiviral effectors.

Published in:

2008

By:

Sadler, Anthony J.;
Williams, Bryan R. G.

Publication type:

journal article

Ageing and life-long maintenance of T-cell subsets in the face of latent persistent infections.

Published in:

2008

By:

Nikolich-Žugich, Janko;
Nikolich-Zugich, Janko

Publication type:

journal article

Unravelling the association of partial T-cell immunodeficiency and immune dysregulation.

Published in:

Nature Reviews Immunology, 2008, v. 8, n. 7, p. 545, doi. 10.1038/nri2336

By:

Liston, Adrian;
Enders, Anselm;
Siggs, Owen M.

Publication type:

Article

Disease genetics: Genetic diagnoses from single oocytes.

Published in:

Nature Reviews Genetics, 2014, v. 15, n. 2, p. 67, doi. 10.1038/nrg3669

By:

Burgess, Darren J.

Publication type:

Article

Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 1729, doi. 10.3390/jcm8101729

By:

Boursier, Guilaine;
Rittore, Cécile;
Georgin-Lavialle, Sophie;
Belot, Alexandre;
Galeotti, Caroline;
Hachulla, Eric;
Hentgen, Véronique;
Rossi-Semerano, Linda;
Sarrabay, Guillaume;
Touitou, Isabelle

Publication type:

Article

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 1, p. 68, doi. 10.3390/jcm8010068

By:

Jou, Cristina;
Ortigoza-Escobar, Juan D.;
O'Callaghan, Maria M.;
Nascimento, Andres;
Darling, Alejandra;
Pias-Peleteiro, Leticia;
Perez-Dueñas, Belén;
Pineda, Mercedes;
Codina, Anna;
Arjona, César;
Armstrong, Judith;
Palau, Francesc;
Ribes, Antonia;
Gort, Laura;
Tort, Frederic;
Navas, Placido;
Ruiz-Pesini, Eduardo;
Emperador, Sonia;
Lopez-Gallardo, Ester;
Bayona-Bafaluy, Pilar

Publication type:

Article

Intention to Obtain Genetic Testing for Melanoma among Individuals at Low to Moderate Risk of Hereditary Melanoma.

Published in:

American Journal of Health Education, 2007, v. 38, n. 3, p. 147, doi. 10.1080/19325037.2007.10598960

By:

Vadaparampil, Susan T.;
Azzarello, Lora;
Pickard, Jennifer;
Jacobsen, Paul B.

Publication type:

Article

Premutations in the FMR1 Gene are Uncommon in Men Undergoing Genetic Testing for Spinocerebellar Ataxia.

Published in:

Journal of Neurogenetics, 2008, v. 22, n. 1, p. 77, doi. 10.1080/01677060701686242

By:

Adams, Sara A.;
Steenblock, Kelle J.;
Thibodeau, Stephen N.;
Lindor, Noralane M.

Publication type:

Article