Works matching Human chromosome abnormalities

Results: 2977

Chromosome Abnormalities in the Human Oocyte.

Published in:

Cytogenetic & Genome Research, 2011, v. 133, n. 2-4, p. 107, doi. 10.1159/000323801

By:

Fragouli, E.;
Wells, D.;
Delhanty, J. D. A.

Publication type:

Article

Frequency and distribution of chromosome abnormalities in human oocytes.

Published in:

Cytogenetic & Genome Research, 2005, v. 111, n. 3/4, p. 193, doi. 10.1159/000086889

By:

Kuliev, A.;
Cieslak, J.;
Verlinsky, Y.

Publication type:

Article

Frequency and distribution of chromosome abnormalities in human spermatozoa.

Published in:

Cytogenetic & Genome Research, 2005, v. 111, n. 3/4, p. 199, doi. 10.1159/000086890

By:

Templado, C.;
Bosch, M.;
Benet, J.

Publication type:

Article

Histone H2AFX Links Meiotic Chromosome Asynapsis to Prophase I Oocyte Loss in Mammals.

Published in:

PLoS Genetics, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.pgen.1005462

By:

Cloutier, Jeffrey M.;
Mahadevaiah, Shantha K.;
ElInati, Elias;
Nussenzweig, André;
Tóth, Attila;
Turner, James M. A.

Publication type:

Article

Keeping genetic information under wraps.

Published in:

Hastings Center Report, 1997, v. 27, n. 2, p. 6, doi. 10.2307/3527619

By:

Palca, Joseph

Publication type:

Article

EP04.13: Parental origin of autosomal trisomies and triploidies prenatally diagnosed by QF‐PCR.

Published in:

Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 252, doi. 10.1002/uog.21168

By:

Benitez Quintanilla, L.;
Badenas, C.;
Lopez, V.;
Borobio, V.;
Pauta, M.;
Borrell, A.

Publication type:

Article

CYTOGENETIC FINDINGS IN SERBIAN PATIENTS WITH KLINEFELTER SYNDROME.

Published in:

Genetika (0534-0012), 2020, v. 52, n. 1, p. 97, doi. 10.2298/GENSR2001097D

By:

ĐORĐEVIĆ, Vesna;
JEMUOVIĆ, Zvezdana;
PEKIĆ, Sandra;
DJUROVIĆ, Marina

Publication type:

Article

Age-Dependent Recombination Rates in Human Pedigrees.

Published in:

PLoS Genetics, 2011, v. 7, n. 9, p. 1, doi. 10.1371/journal.pgen.1002251

By:

Hussin, Julie;
Roy-Gagnon, Marie-Hélène;
Gendron, Roxanne;
Andelfinger, Gregor;
Awadalla, Philip

Publication type:

Article

Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.

Published in:

Clinical Genetics, 2006, v. 70, n. 3, p. 207, doi. 10.1111/j.1399-0004.2006.00664.x

By:

Reboul, M.-P.;
Tandonnet, O.;
Biteau, N.;
Belet-de Putter, C.;
Rebouissoux, L.;
Moradkhani, K.;
Vu, P. Y.;
Saura, R.;
Arveiler, B.;
Lacombe, D.;
Taine, L.;
Iron, A.

Publication type:

Article

Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21.

Published in:

Clinical Genetics, 2001, v. 60, n. 1, p. 83, doi. 10.1034/j.1399-0004.2001.600114.x

By:

Liehr, T;
Beensen, V;
Starke, H;
Hauschild, R;
Hempell, E;
Fritsche, V;
Hoppe, C;
Großwendt, G;
Prechtel, M;
Ziegler, M;
Claussen, U;
von Eggeling, F

Publication type:

Article

Effect of ovarian stimulation on embryo aneuploidy and mosaicism rate.

Published in:

Systems Biology in Reproductive Medicine, 2021, v. 67, n. 1, p. 42, doi. 10.1080/19396368.2020.1850908

By:

Cascales, Alba;
Lledó, Belen;
Ortiz, Jose A.;
Morales, Ruth;
Ten, Jorge;
Llácer, Joaquin;
Bernabeu, Rafael

Publication type:

Article

Overexpression of TEL-MN1 Fusion Enhances Resistance of HL-60 Cells to Idarubicin.

Published in:

Chemotherapy (0009-3157), 2018, v. 63, n. 6, p. 308, doi. 10.1159/000495073

By:

Gong, Shenglan;
Guo, Mengqiao;
Tang, Gusheng;
Yang, Jianmin;
Qiu, Huiying

Publication type:

Article

What next for preimplantation genetic screening? A polar body approach!

Published in:

2010

By:

Geraedts, Joep;
Collins, John;
Gianaroli, Luca;
Goossens, Veerle;
Handyside, Alan;
Harper, Joyce;
Montag, Markus;
Repping, Sjoerd;
Schmutzler, Andreas

Publication type:

journal article

Down Syndrome Face Recognition: A Review.

Published in:

Symmetry (20738994), 2020, v. 12, n. 7, p. 1182, doi. 10.3390/sym12071182

By:

Agbolade, Olalekan;
Nazri, Azree;
Yaakob, Razali;
Ghani, Abdul Azim;
Cheah, Yoke Kqueen

Publication type:

Article

"You've Got It, You May Have It, You Haven't Got It: Multiplicity, Heterogeneity, and the Unintended Consequences of HIV-related Tests.

Published in:

Science, Technology & Human Values, 2009, v. 34, n. 1, p. 102, doi. 10.1177/0162243907310376

By:

Corbett, Kevin P.

Publication type:

Article

Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?

Published in:

Journal of Child Psychology & Psychiatry, 2007, v. 48, n. 6, p. 571, doi. 10.1111/j.1469-7610.2007.01736.x

By:

Oliver, Chris;
Horsler, Kate;
Berg, Katy;
Bellamy, Gail;
Dick, Katie;
Griffiths, Emily

Publication type:

Article

Charcot-marie-tooth disease subtypes and genetic testing strategies.

Published in:

Annals of Neurology, 2011, v. 69, n. 1, p. 22, doi. 10.1002/ana.22166

By:

Saporta, Anita S. D.;
Sottile, Stephanie L.;
Miller, Lindsey J.;
Feely, Shawna M.E.;
Siskind, Carly E.;
Shy, Michael E.

Publication type:

Article

Reducing glutamate signaling pays off in fragile X.

Published in:

Nature Medicine, 2008, v. 14, n. 3, p. 249, doi. 10.1038/nm0308-249

By:

Bassell, Gary J.;
Gross, Christina

Publication type:

Article

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 83, doi. 10.1007/s004390050015

By:

Kokkonen, Hannaleena;
Leisti, Jaakko

Publication type:

Article

Why is there not a de facto gold standard for genetic-testing controls?

Published in:

Medical Laboratory Observer (MLO), 2008, v. 40, n. 5, p. 16

By:

Murphy, Michael

Publication type:

Article

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes.

Published in:

Journal of Autism & Developmental Disorders, 2009, v. 39, n. 4, p. 572, doi. 10.1007/s10803-008-0655-6

By:

Moss, Joanna;
Oliver, Chris;
Arron, Kate;
Burbidge, Cheryl;
Berg, Katy

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

Benefits and burdens of genetic carrier identification.

Published in:

1997

By:

Williams JK;
Schutte DL

Publication type:

Journal Article

A regulator of Dscam mutually exclusive splicing fidelity.

Published in:

Nature Structural & Molecular Biology, 2007, v. 14, n. 12, p. 1134, doi. 10.1038/nsmb1339

By:

Olson, Sara;
Blanchette, Marco;
Park, Jung;
Savva, Yiannis;
Yeo, Gene W.;
Yeakley, Joanne M.;
Rio, Donald C.;
Graveley, Brenton R.

Publication type:

Article

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.

Published in:

Nature Structural & Molecular Biology, 2005, v. 12, n. 1, p. 54, doi. 10.1038/nsmb873

By:

Hastings, Michelle L.;
Resta, Nicoletta;
Traum, Daniel;
Stella, Alessandro;
Guanti, Ginevra;
Krainer, Adrian R.

Publication type:

Article

Dementia Entanglements in a Postgenomic Era.

Published in:

Science, Technology & Human Values, 2011, v. 36, n. 5, p. 685, doi. 10.1177/0162243910388022

By:

Lock, Margaret

Publication type:

Article

How Politics Deals with Expert Dissent: The Case of Ethics Councils.

Published in:

Science, Technology & Human Values, 2010, v. 35, n. 6, p. 888, doi. 10.1177/0162243909357913

By:

Bogner, Alexander;
Menz, Wolfgang

Publication type:

Article

Coming to Terms with Biomedical Technologies in Different Technopolitical Cultures: A Comparative Analysis of Focus Groups on Organ Transplantation and Genetic Testing in Austria, France, and the Netherlands.

Published in:

Science, Technology & Human Values, 2010, v. 35, n. 4, p. 525, doi. 10.1177/0162243909345839

By:

Felt, Ulrike;
Fochler, Maximilian;
Winkler, Peter

Publication type:

Article

Reflections on Reflexive Engagement: Response to Nowotny and Wynne.

Published in:

Science, Technology & Human Values, 2007, v. 32, n. 5, p. 608, doi. 10.1177/0895904805303208

By:

Webster, Andrew

Publication type:

Article

Regulating Risk: Defining Genetic Privacy in the United States and Britain.

Published in:

Science, Technology & Human Values, 2004, v. 29, n. 3, p. 332, doi. 10.1177/0162243904264485

By:

Parthasarathy, Shobita

Publication type:

Article

Oguchi disease.

Published in:

Journal of Postgraduate Medicine, 2006, v. 52, n. 2, p. 143

By:

Kalpana, S.;
Muthayya, M.;
Doctor, P. P.

Publication type:

Article

Genetic testing and human autonomy.

Published in:

South African Journal of Philosophy, 2004, v. 23, n. 1, p. 69, doi. 10.4314/sajpem.v23i1.31385

By:

Beckman, Jan P.

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

AMWA Position Statement: Genetic Testing.

Published in:

Journal of Women's Health (15409996), 2009, v. 18, n. 6, p. 785, doi. 10.1089/jwh.2009.1483

By:

Devi, Gayatri;
Glodowski, Michele;
Shin, Elizabeth

Publication type:

Article

Correlation-based feature selection and classification via regression of segmented chromosomes using geometric features.

Published in:

2017

By:

Arora, Tanvi;
Dhir, Renu

Publication type:

journal article

MOLLOY V MEIER AND THE EXPANDING STANDARD OF MEDICAL CARE: IMPLICATIONS FOR PUBLIC HEALTH POLICY AND PRACTICE.

Published in:

Public Health Reports, 2005, v. 120, n. 2, p. 209, doi. 10.1177/003335490512000216

By:

Burke, Taylor;
Rosenbaum, Sara

Publication type:

Article

LA IMPORTANCIA DEL DIAGNÓSTICO GENÉTICO PREIMPLANTACIONAL A LA LUZ DE LOS DERECHOS HUMANOS.

Published in:

Revista Jurídica de la Universidad Autonóma de Madrid, 2017, n. 35, p. 267, doi. 10.15366/rjuam2017.35.009

By:

PABLO NOTRICA, FEDERICO

Publication type:

Article

Silicon Nanowire Biochip to Boost Genetic Testing.

Published in:: Innovation, 2007, v. 7, n. 3, p. 4
Publication type:: Article

Trichodental Dysplasia: A Rare Syndrome With Distinct Dental Findings.

Published in:

Pediatric Dentistry, 2006, v. 28, n. 4, p. 345

By:

Montalvan, Ericka;
Mazzone, Christina;
Tofsky, Nanci;
Mupparapu, Muralidhar

Publication type:

Article

Unjustified Discrimination: Is the Moratorium on the use of Genetic Test Results by Insurers a Contradiction in Terms?

Published in:

Health Care Analysis, 2010, v. 18, n. 3, p. 279, doi. 10.1007/s10728-009-0137-9

By:

Wilkinson, Ruth

Publication type:

Article

Public Perceptions of Ethical Issues Regarding Adult Predictive Genetic Testing.

Published in:

Health Care Analysis, 2010, v. 18, n. 2, p. 103, doi. 10.1007/s10728-009-0113-4

By:

Martin, Douglas K.;
Greenwood, Heather L.;
Nisker, Jeff

Publication type:

Article

Chromosomal abnormalities in human glioblastomas: Gain in chromosome 7p correlating with loss in chromosome 10q.

Published in:

Molecular Carcinogenesis, 2003, v. 36, n. 1, p. 6, doi. 10.1002/mc.10085

By:

del Mar Inda, María;
Fan, Xing;
Muñoz, Jorge;
Perot, Christine;
Fauvet, Didier;
Danglot, Giselle;
Palacio, Ana;
Madero, Pilar;
Zazpe, Idoya;
Portillo, Eduardo;
Tuñón, Teresa;
Martínez-Peñuela, José María;
Alfaro, Jorge;
Eiras, José;
Bernheim, Alain;
Castresana, Javier S.

Publication type:

Article

Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.

Published in:

Documenta Ophthalmologica, 2020, v. 141, n. 2, p. 181, doi. 10.1007/s10633-020-09759-y

By:

Ballios, Brian G.;
Weisbrod, Daniel;
Kohly, Radha;
Muni, Rajeev H.;
Wright, Tom;
Yan, Peng

Publication type:

Article

Genetic identification of new biological species Saccharomyces arboricolus Wang et Bai.

Published in:

Antonie van Leeuwenhoek, 2010, v. 98, n. 1, p. 1, doi. 10.1007/s10482-010-9441-5

By:

Naumov, Gennadi I.;
Naumova, Elena S.;
Masneuf-Pomarède, Isabelle

Publication type:

Article

The influence of acculturation and breast cancer-specific distress on perceived barriers to genetic testing for breast cancer among women of African descent.

Published in:

Psycho-Oncology, 2009, v. 18, n. 9, p. 945, doi. 10.1002/pon.1492

By:

Sussner, Katarina M.;
Thompson, Hayley S.;
Jandorf, Lina;
Edwards, Tiffany A.;
Forman, Andrea;
Brown, Karen;
Kapil-Pair, Nidhi;
Bovbjerg, Dana H.;
Schwartz, Marc D.;
Valdimarsdottir, Heiddis B.

Publication type:

Article

Psychological distress and quality of life associated with genetic testing for breast cancer risk.

Published in:

Psycho-Oncology, 2008, v. 17, n. 8, p. 767, doi. 10.1002/pon.1291

By:

Smith, Ashley Wilder;
Dougall, Angela Liegey;
Posluszny, Donna M.;
Somers, Tamara J.;
Rubinstein, Wendy S.;
Baum, Andrew

Publication type:

Article

Monitoring coping style moderates emotional reactions to genetic testing for hereditary nonpolyposis colorectal cancer: a longitudinal study.

Published in:

Psycho-Oncology, 2008, v. 17, n. 8, p. 746, doi. 10.1002/pon.1338

By:

Shiloh, S.;
Koehly, L.;
Jenkins, J.;
Martin, J.;
Hadley, D.

Publication type:

Article

The phases of disclosing BRCA1/2 genetic information to offspring.

Published in:

Psycho-Oncology, 2008, v. 17, n. 8, p. 797, doi. 10.1002/pon.1344

By:

Clarke, Susan;
Butler, Kate;
Esplen, Mary Jane

Publication type:

Article

Psychological functioning in persons considering genetic counseling and testing for Li–Fraumeni syndrome.

Published in:

Psycho-Oncology, 2008, v. 17, n. 8, p. 783, doi. 10.1002/pon.1352

By:

Peterson, Susan K.;
Pentz, Rebecca D.;
Marani, Salma K.;
Ward, Patricia A.;
Blanco, Amie M.;
LaRue, Denise;
Vogel, Kristen;
Solomon, Tamara;
Strong, Louise C.

Publication type:

Article

A randomized trial of a breast/ovarian cancer genetic testing decision aid used as a communication aid during genetic counseling.

Published in:

Psycho-Oncology, 2008, v. 17, n. 8, p. 844, doi. 10.1002/pon.1353

By:

Wakefield, Claire E.;
Meiser, Bettina;
Homewood, Judi;
Taylor, Alan;
Gleeson, Margaret;
Williams, Rachel;
Tucker, Kathy

Publication type:

Article