Works matching Human chromosome abnormalities

Results: 3528

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

"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

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

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

Diagnosis at dusk: Malignant hypertension and phaeochromocytoma in a 6-year-old girl.

Published in:

2008

By:

Corcoran, John;
Bird, Chris;
Side, Lucy;
Lakhoo, Kokila;
Ryan, Fiona

Publication type:

Other

DOUBLE HELIX, DOUBLE STANDARDS: PRIVATE MATTERS AND PUBLIC PEOPLE.

Published in:

Journal of Health Care Law & Policy, 2008, v. 11, n. 2, p. 295

By:

BROWN, TENEILLE R.

Publication type:

Article

An Errorless Approach to Management of Child Noncompliance in a Special Education Setting.

Published in:

School Psychology Review, 2005, v. 34, n. 1, p. 107, doi. 10.1080/02796015.2005.12086278

By:

Ducharme, Joseph M.;
DiAdamo, Carolyn

Publication type:

Article

Evolution of Genomic Imprinting with Biparental Care: Implications for Prader-Willi and Angelman Syndromes.

Published in:

PLoS Biology, 2008, v. 6, n. 8, p. e208, doi. 10.1371/journal.pbio.0060208

By:

Úbeda, Francisco

Publication type:

Article

A Focused and Efficient Genetic Screening Strategy in the Mouse: Identification of Mutations That Disrupt Cortical Development.

Published in:

PLoS Biology, 2004, v. 2, n. 8, p. 0, doi. 10.1371/journal.pbio.0020219

By:

Zarbalis, Konstantinos;
May, Scott R.;
Shen, Yiguo;
Ekker, Marc;
Rubenstein, John L. R.;
Peterson, Andrew S.

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

Genetic screening in patients of reproductive age.

Published in:

Postgraduate Medicine, 2000, v. 107, n. 6, p. 121

By:

Wheeler, Patricia G.;
Bianchi, Diana W.

Publication type:

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

Silicon Nanowire Biochip to Boost Genetic Testing.

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

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

Analysing our qualms about “designing” future persons: Autonomy, freedom of choice, and interfering with nature.

Published in:

Medicine, Health Care & Philosophy, 2007, v. 10, n. 4, p. 407, doi. 10.1007/s11019-007-9052-8

By:

Erik Malmqvist

Publication type:

Article

Effect of culture conditions and media on the frequency of chromosomal abnormalities in human sperm chromosome complements.

Published in:

Molecular Reproduction & Development, 1990, v. 26, n. 2, p. 101, doi. 10.1002/mrd.1080260202

By:

Martin, Renee H.;
Templado, Cristina;
Ko, Evelyn;
Rademaker, Alfred

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

The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia.

Published in:

2008

By:

Keckler, Scott J.;
St. Peter, Shawn D.;
Spilde, Tro L.y;
Ostlie, Daniel J.;
Snyder, Charles L.;
Spilde, Troy L

Publication type:

journal article

Down syndrome and the enteric nervous system.

Published in:

2008

By:

Moore, S. W.

Publication type:

journal article

The impact of Down's syndrome on the immediate and long-term outcomes of children with Hirschsprung's disease.

Published in:

2006

By:

Morabito, Antonino;
Lall, Anupam;
Gull, Sobbia;
Mohee, Amar;
Bianchi, Adrian

Publication type:

journal article

Ileo-caecal arterio-venous malformation associated with extrahepatic portal hypertension: a case report.

Published in:

2005

By:

Tatekawa, Y.;
Muraji, T.;
Tsugawa, C.

Publication type:

journal article

Incidence of cryptorchidism and ascending testes in Trisomy 21: a 10 year retrospective review.

Published in:

Pediatric Surgery International, 2004, v. 20, n. 10, p. 744, doi. 10.1007/s00383-004-1290-8

By:

Chew, Grace;
Hutson, John M.

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

cDNA cloning and distribution of XEXT1, the Xenopus homologue of EXT1.

Published in:

Development Genes & Evolution, 2002, v. 212, n. 5, p. 248, doi. 10.1007/s00427-002-0237-0

By:

Katada, Tomohisa;
Oogami, Shunji;
Shima, Naoya;
Kinoshita, Tsutomu

Publication type:

Article

Ethics or Morals: Understanding Students’ Values Related to Genetic Tests on Humans.

Published in:

Science & Education, 2009, v. 18, n. 10, p. 1285, doi. 10.1007/s11191-008-9148-4

By:

Lindahl, Mats

Publication type:

Article

Incorporating Pharmacogenomics into Practice.

Published in:

Journal of Pharmacy Practice, 2007, v. 20, n. 3, p. 277, doi. 10.1177/0897190007304820

By:

Ellingrod, Vicki L.;
Moline, Jessica

Publication type:

Article

Subject Index Vol. 178, 2004.

Published in:: Cells Tissues Organs, 2004, v. 178, n. 4, p. 246, doi. 10.1159/000084918
Publication type:: Article

Altered ATP-Sensitive P2 Receptor Subtype Expression in the Han:SPRD cy/+ Rat, a Model of Autosomal Dominant Polycystic Kidney Disease.

Published in:

Cells Tissues Organs, 2004, v. 178, n. 3, p. 168, doi. 10.1159/000082247

By:

Turner, C. M.;
Ramesh, B.;
Srai, S. K. S.;
Burnstock, G.;
Unwin, R. J.

Publication type:

Article

Beware the solitary maxillary median central incisor.

Published in:

Journal of Orthodontics, 2008, v. 35, n. 1, p. 16, doi. 10.1179/146531207225022365

By:

DiBiase, Andrew T.;
Cobourne, Martyn T.

Publication type:

Article

GENETIC SCREENING AND REPRODUCTIVE CHOICE: IS MAKING A CHILD TO SAVE ANOTHER UNETHICAL?

Published in:

Medicine & Law (World Association for Medical Law), 2005, v. 24, n. 4, p. 775

By:

Simonstein, Frida

Publication type:

Article