Works matching Human chromosome abnormalities

Results: 3530

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

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

The Role of Repeat DNA Sequences in Human Evolution and Disease.

Published in:: Journal of the Association of Genetic Technologists, 2022, v. 48, n. 2, p. 54
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

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

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

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

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

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

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

"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

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

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

Utility and limitations of genetic testing and information.

Published in:

Nursing Standard, 2005, v. 20, n. 5, p. 52, doi. 10.7748/ns.20.5.52.s52

By:

Bradley, Aoife N.

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

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

Facilitating Family Communication About Predictive Genetic Testing: Probands Perceptions.

Published in:

Journal of Genetic Counseling, 2005, v. 14, n. 2, p. 133, doi. 10.1007/s10897-005-0412-3

By:

Clara L. Gaff;
Veronica Collins;
Tiffany Symes;
Jane Halliday

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

Informed Consent Process in Alpha-1 Testing of At-Risk Children: Views of Parents and Adults Tested as Children.

Published in:

COPD: Journal of Chronic Obstructive Pulmonary Disease, 2011, v. 8, n. 1, p. 30, doi. 10.3109/15412555.2010.541958

By:

Coors, Marilyn E.;
Moseley, Ray;
McGorray, Susan

Publication type:

Article

Angelman syndrome as a rare anaesthetic problem.

Published in:

2004

By:

Bujok, Grzegorz;
Knapik, Piotr

Publication type:

Letter

Private parts.

Published in:

Sciences, 1994, v. 34, n. 2, p. 18

By:

Cook-Deegan, Robert

Publication type:

Article

Genetic aspects of Alzheimer's disease, Pick's disease, and other dementias.

Published in:

2004

By:

Nee LE;
Tierney MC;
Lippa CF

Publication type:

Journal Article

Radiation Biodosimetry: Current Status and Future Initiatives.

Published in:

Cytogenetic & Genome Research, 2024, v. 163, n. 3/4, p. 85, doi. 10.1159/000535488

By:

Balajee, Adayabalam S.;
Turner, Helen C.;
Wilkins, Ruth C.

Publication type:

Article

A VEIL OF GENETIC IGNORANCE? PROTECTING GENETIC PRIVACY TO ENSURE EQUALITY.

Published in:

Villanova Law Review, 2006, v. 51, n. 4, p. 827

By:

Rao, Radhika

Publication type:

Article

Caracterización: fenotípica de varones adultos con diagnóstico de síndrome X frágil.

Published in:

Psychosocial Intervention, 2008, v. 17, n. 2, p. 201

By:

ALONSO, M. ISABEL GARCÍA;
GÓMEZ, M. BEGOÑA MEDINA

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

Understanding Alzheimer Disease: From Diagnosis to Rehabilitation.

Published in:

Physical & Occupational Therapy in Geriatrics, 2002, v. 20, n. 3/4, p. 103, doi. 10.1080/j148v20n03_07

By:

Rogers, Joan C.

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

Current issues in forensic science higher education.

Published in:

Analytical & Bioanalytical Chemistry, 2009, v. 394, n. 8, p. 1987, doi. 10.1007/s00216-009-2598-y

By:

Quarino, Lawrence;
Brettell, Thomas A.

Publication type:

Article

Microchip PCR.

Published in:

Analytical & Bioanalytical Chemistry, 2003, v. 377, n. 5, p. 820, doi. 10.1007/s00216-003-2144-2

By:

Kricka, L. J.;
Wilding, P.

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

Long-term treatment of antiphospholipid syndrome-associated cerebral arterial thromboses with intravenous immunoglobulin: a case report.

Published in:

Clinical Rheumatology, 2007, v. 26, n. 2, p. 251, doi. 10.1007/s10067-005-0127-8

By:

Arabshahi, B.;
Thompson, E. D.;
Smergel, E. M.;
Goldsmith, D. P.

Publication type:

Article

Modeling of chromosome aberration response functions induced by particle beams with different LET.

Published in:

Radiation & Environmental Biophysics, 2020, v. 59, n. 1, p. 79, doi. 10.1007/s00411-019-00822-0

By:

Czerski, Konrad;
Kowalska, Agata;
Nasonova, Elena;
Kutsalo, Polina;
Krasavin, Evgeny

Publication type:

Article

Spontaneous and radiation-induced chromosomal instability and persistence of chromosome aberrations after radiotherapy in lymphocytes from prostate cancer patients.

Published in:

Radiation & Environmental Biophysics, 2010, v. 49, n. 1, p. 27, doi. 10.1007/s00411-009-0244-x

By:

Hille, Andrea;
Hofman-Hüther, Hana;
Kühnle, Elna;
Wilken, Barbara;
Rave-Fränk, Margret;
Schmidberger, Heinz;
Virsik, Patricia

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

QSAR Studies on N-aryl Derivative Activity Towards Alzheimer's Disease.

Published in:

Molecules, 2009, v. 14, n. 4, p. 1448, doi. 10.3390/molecules14041448

By:

Solomon, Kamalakaran Anand;
Sundararajan, Srinivasan;
Abirami, Veluchamy

Publication type:

Article

Genes and Pulmonary Arterial Hypertension.

Published in:

Respiration, 2007, v. 74, n. 2, p. 123, doi. 10.1159/000098818

By:

Sztrymf, Benjamin;
Yaïci, Azzedine;
Girerd, Barbara;
Humbert, Marc

Publication type:

Article

PP-10 Phenotypic manifestations of copy number variation in chromosome 11p11.2-p11.12.

Published in:

2023

By:

Emeklioglu, Cagdas Nurettin;
Demirel, Elif Akkoc;
Ozalp, Mirac

Publication type:

Case Study

A Possible Specific Chromosome Abnormality in Human Chronic Myeloid Leukæmia.

Published in:

Nature, 1960, v. 188, n. 4757, p. 1165, doi. 10.1038/1881165a0

By:

BAIKIE, A. G.;
COURT-BROWN, W. M.;
BUCKTON, KARIN E.;
HARNDEN, D. G.;
JACOBS, PATRICIA A.;
TOUGH, ISHBEL M.

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

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

To know or not to know the genomic sequence of a fetus.

Published in:

Nature Reviews Genetics, 2012, v. 13, n. 10, p. 676, doi. 10.1038/nrg3333

By:

Netzer, Christian;
Schmitz, Dagmar;
Henn, Wolfram

Publication type:

Article