Works matching Down syndrome and genetics

Results: 932

Genetic sonography after first-trimester Down syndrome screening.

Published in:

Ultrasound in Obstetrics & Gynecology, 2007, v. 29, n. 6, p. 666, doi. 10.1002/uog.4029

By:

Krantz, D.A.;
Hallahan, T.W.;
Macri, V.J.;
Macri, J.N.

Publication type:

Article

Women’s Understanding and Attitudes towards Down Syndrome and Other Genetic Conditions in the Context of Prenatal Screening.

Published in:

Journal of Genetic Counseling, 2018, v. 27, n. 3, p. 647, doi. 10.1007/s10897-017-0167-7

By:

Long, Sarah;
O'Leary, Peter;
Dickinson, Jan E.;
Lobo, Roanna

Publication type:

Article

Effects of a Genetic Counseling Model on Mothers of Children with Down Syndrome: A Brazilian Pilot Study.

Published in:

Journal of Genetic Counseling, 2013, v. 22, n. 6, p. 784, doi. 10.1007/s10897-013-9619-x

By:

Micheletto, Marcos Ricardo Datti;
Valerio, Nelson Iguimar;
Fett-Conte, Agnes Cristina

Publication type:

Article

Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2011, v. 20, n. 5, p. 432, doi. 10.1007/s10897-011-9375-8

By:

Sheets, Kathryn;
Crissman, Blythe;
Feist, Cori;
Sell, Susan;
Johnson, Lisa;
Donahue, Kelly;
Masser-Frye, Diane;
Brookshire, Gail;
Carre, Amanda;
LaGrave, Danielle;
Brasington, Campbell

Publication type:

Article

What predicts the use of genetic counseling services after the birth of a child with Down syndrome?

Published in:

2003

By:

Collins V;
Halliday J;
Williamson R

Publication type:

Journal Article

What Predicts the Use of Genetic Counseling Services After the Birth of a Child With Down Syndrome?

Published in:

Journal of Genetic Counseling, 2003, v. 12, n. 1, p. 43, doi. 10.1023/A:1021495117739

By:

Collins, Veronica;
Halliday, Jane;
Williamson, Robert

Publication type:

Article

Experiencia en la aplicación de la "Guía de salud para personas con síndrome de Down" de la Academia Americana de Pediatría de 2001 en pacientes del Hospital Universitario.

Published in:

Boletín Médico del Hospital Infantil de México, 2008, v. 65, n. 4, p. 261

By:

Hernández-Almaguer, Dolores;
Martínez-de Villarreal, Laura;
Arteaga-Alcaraz, Georgina;
Elizondo-Cárdenas, Gabriela;
Esmer-Sánchez, María del Carmen

Publication type:

Article

Down syndrome and Genetic Counseling Strategies.

Published in:

Perinatology: Journal of Perinatal & Neonatal Care, 2007, v. 9, n. 4, p. 185

By:

Lissy, P.;
Bhat, M.;
Patil, S. J.

Publication type:

Article

Genetic syndromes and autoimmunity: what do we know? Focus on Down and Turner syndrome.

Published in:

Expert Review of Clinical Immunology, 2023, v. 19, n. 9, p. 1051, doi. 10.1080/1744666X.2023.2219896

By:

Li Pomi, Alessandra;
Wasniewska, Malgorzata

Publication type:

Article

History of genetic disease: Down syndrome and genetics-a case of linked histories.

Published in:

Nature Reviews Genetics, 2005, v. 6, n. 2, p. 137, doi. 10.1038/nrg1525

By:

Patterson, David;
Costa, Alberto C. S.

Publication type:

Article

REGULATING PREIMPLANTATION GENETIC DIAGNOSIS: THE CASE OF DOWN'S SYNDROME.

Published in:

Medical Law Review, 2011, v. 19, n. 2, p. 157, doi. 10.1093/medlaw/fwr009

By:

KRAHN, TIMOTHY MARK

Publication type:

Article

ACONSELHAMENTO GENETICO NA SINDROME DE DOWN: REVISÃO INTEGRATIVA.

Published in:

Brazilian Journal of Surgery & Clinical Research, 2015, v. 13, n. 4, p. 111

By:

SILVA SOARES, JÉSSICA LOREN;
LINO DE MENEZES, JULIANNE;
LINO DE MENEZES, JÚLLIA;
VIEIRA CAMILO, KARINA;
LAGUARDIA ROCHA, LUIZ HENRIQUE;
DE SOUZA MATTA, WELLINGTON;
LAGUARDIA VALENTE ROCHA, LAMARA

Publication type:

Article

EP12.02: Extending the window for genetic screening sonograms: needs assessment for an ultrasound-based Down's syndrome risk model up to 24 weeks gestation.

Published in:

2016

By:

Hertenstein, C.B.;
Blakemore, K.;
Hertenstein, D.L.;
Lawson, C.;
Corson, V.;
Rock, K.;
Sagaser, K.G.;
Crino, J.

Publication type:

journal article

P08.17: To review the experience with screening and genetic sonography of fetal Down syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 197, doi. 10.1002/uog.9718

By:

Nyberg, D.;
Mckenna, C.;
Adusumalli, J.;
Nyberg, B.

Publication type:

Article

P33.03: Prenatal ultrasound and genetic detection of an unusual presentation of Down syndrome: Case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2008, v. 32, n. 3, p. 423, doi. 10.1002/uog.6000

By:

Albu, C. C.;
Albu, D. F.;
Severin, E. M.;
Dumitrescu, M.

Publication type:

Article

Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis.

Published in:

Biomedicines, 2023, v. 11, n. 12, p. 3284, doi. 10.3390/biomedicines11123284

By:

Koul, Aabid Mustafa;
Ahmad, Faisel;
Bhat, Abida;
Aein, Qurat-ul;
Ahmad, Ajaz;
Reshi, Aijaz Ahmad;
Kaul, Rauf-ur-Rashid

Publication type:

Article

The effect of a prior e‐learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial.

Published in:

Journal of Genetic Counseling, 2024, v. 33, n. 3, p. 666, doi. 10.1002/jgc4.1774

By:

Aboleil‐Zoubi, Olfat;
Gafni‐Amsalem, Chen;
Peled‐Perets, Lilach;
Mamluk, Efrat;
Tamir, Liron;
Hakrosh, Shadia;
Kurtzman, Shoshana;
Chervinsky, Elena;
Aalimi, Ula;
Husam, Bashir;
Khayat, Morad;
Baram‐Tsabari, Ayelet;
Shalev, Stavit A.

Publication type:

Article

Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice.

Published in:

Human Genetics, 2014, v. 133, n. 6, p. 743, doi. 10.1007/s00439-013-1407-z

By:

Liu, Chunhong;
Morishima, Masae;
Jiang, Xiaoling;
Yu, Tao;
Meng, Kai;
Ray, Debjit;
Pao, Annie;
Ye, Ping;
Parmacek, Michael;
Yu, Y.

Publication type:

Article

Genetic analysis of Down syndrome-associated heart defects in mice.

Published in:

Human Genetics, 2011, v. 130, n. 5, p. 623, doi. 10.1007/s00439-011-0980-2

By:

Liu, Chunhong;
Morishima, Masae;
Yu, Tao;
Matsui, Sei-Ichi;
Zhang, Li;
Fu, Dawei;
Pao, Annie;
Costa, Alberto;
Gardiner, Katheleen;
Cowell, John;
Nowak, Normal;
Parmacek, Michael;
Liang, Ping;
Baldini, Antonio;
Yu, Y.

Publication type:

Article

Erratum to: Genetic analysis of Down syndrome-associated heart defects in mice.

Published in:

2011

By:

Liu, Chunhong;
Morishima, Masae;
Yu, Tao;
Matsui, Sei-Ichi;
Zhang, Li;
Fu, Dawei;
Pao, Annie;
Costa, Alberto;
Gardiner, Katheleen;
Cowell, John;
Nowak, Norma;
Parmacek, Michael;
Liang, Ping;
Baldini, Antonio;
Yu, Y.

Publication type:

Correction Notice

Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 9, p. 771, doi. 10.1093/hmg/ddab012

By:

Duchon, Arnaud;
Moreno, Maria del Mar Muniz;
Lorenzo, Sandra Martin;
Souza, Marcia Priscilla Silva de;
Chevalier, Claire;
Nalesso, Valérie;
Meziane, Hamid;
Sousa, Paulo Loureiro de;
Noblet, Vincent;
Armspach, Jean-Paul;
Brault, Veronique;
Herault, Yann

Publication type:

Article

Down Syndrome -- Genetics and Cardiogenetics.

Published in:

Maedica - a Journal of Clinical Medicine, 2017, v. 12, n. 3, p. 208

By:

PLAIASU, Vasilica

Publication type:

Article

INTERGERACIONAL DOWN'S SYNDROME: GENETIC MARKERS.

Published in:

Acta Facultatis Educationis Physicae Universitatis Comenianae, 2010, v. 50, n. 2, p. 5

By:

Castilha, Fábio André;
Monte, Aurenice Sampaio Irene;
Fernandes, Paula Roquetti;
Dantas, Paulo Moreira Silva;
Filho, José Fernandes

Publication type:

Article

Understanding the genetic mechanisms and cognitive impairments in Down syndrome: towards a holistic approach.

Published in:

Journal of Neurology, 2024, v. 271, n. 1, p. 87, doi. 10.1007/s00415-023-11890-0

By:

Abukhaled, Yara;
Hatab, Kenana;
Awadhalla, Mohammad;
Hamdan, Hamdan

Publication type:

Article

Genetics: Up and down in Down's syndrome.

Published in:

Nature, 2014, v. 508, n. 7496, p. 323, doi. 10.1038/508323a

By:

Pope, Benjamin D.;
Gilbert, David M.

Publication type:

Article

Doença periodontal em indivíduos com Síndrome de Down: enfoque genético.

Published in:

RGO: Revista Gaúcha de Odontologia, 2009, v. 57, n. 4, p. 449

By:

Cavalcante, Lícia Bezerro;
Pires, Juliana Rico;
Scarel-Caminaga, Raquel Mantuaneli

Publication type:

Article

Epidemiology of Down Syndrome: New Insight Into the Multidimensional Interactions Among Genetic and Environmental Risk Factors in the Oocyte.

Published in:

American Journal of Epidemiology, 2011, v. 174, n. 9, p. 1009, doi. 10.1093/aje/kwr240

By:

Ghosh, Sujoy;
Hong, Chang-Sook;
Feingold, Eleanor;
Ghosh, Papiya;
Ghosh, Priyanka;
Bhaumik, Pranami;
Dey, Subrata Kumar

Publication type:

Article

Down's syndrome and COVID-19: risk or protection factor against infection? A molecular and genetic approach.

Published in:

Neurological Sciences, 2021, v. 42, n. 2, p. 407, doi. 10.1007/s10072-020-04880-x

By:

Altable, Marcos;
de la Serna, Juan Moisés

Publication type:

Article

Genetics Corner: Alveolar Simplification and Down Syndrome.

Published in:

2020

By:

Clark, Robin

Publication type:

Case Study

Ocular Genetics and Down Syndrome.

Published in:

2009

By:

Wagner, Rudolph S.

Publication type:

Editorial

Feasibility and Long-Term Compliance to Continuous Positive Airway Pressure Treatment in Adults With Down Syndrome, a Genetic Form of Alzheimer's Disease.

Published in:

Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.838412

By:

Giménez, Sandra;
Farre, Ariadna;
Morente, Fátima;
Videla, Laura;
Gutiérrez, Marta;
Clos, Susana;
Fernández, Ana;
Blanco, Marta;
Altuna, Miren;
Pegueroles, Jordi;
Asensio, Amparo;
Benejam, Bessy;
Batista, Mar;
Barroeta, Isabel;
Fortuna, Ana;
Fortea, Juan;
Mayos, Mercedes

Publication type:

Article

Brain Mitochondrial Bioenergetics in Genetic Neurodevelopmental Disorders: Focus on Down, Rett and Fragile X Syndromes.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12488, doi. 10.3390/ijms241512488

By:

Valenti, Daniela;
Vacca, Rosa Anna

Publication type:

Article

Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6274, doi. 10.3390/ijms22126274

By:

Fernández, María;
de Coo, Alicia;
Quintela, Inés;
García, Eliane;
Diniz-Freitas, Márcio;
Limeres, Jacobo;
Diz, Pedro;
Blanco, Juan;
Carracedo, Ángel;
Cruz, Raquel

Publication type:

Article

Cardio-STIC (spatio-temporal image correlation) as genetic ultrasound of fetal Down syndrome.

Published in:

2015

By:

Tongsong, Theera;
Tongprasert, Fuanglada;
Srisupundit, Kasemsri;
Luewan, Suchaya;
Traisrisilp, Kuntharee

Publication type:

journal article

New contingent sequential screening model for Down syndrome based on the combined test associated with modified genetic sonography.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2013, v. 26, n. 18, p. 1792, doi. 10.3109/14767058.2013.806895

By:

Bueno, José Antonio Sainz;
García, María;
Fernández, Ana;
Turmo, Enriqueta;
Garrido, Rogelio

Publication type:

Article

Enhancer polymorphisms at the IKZF1 susceptibility locus for acute lymphoblastic leukemia impact B-cell proliferation and differentiation in both Down syndrome and non-Down syndrome genetic backgrounds.

Published in:

PLoS ONE, 2021, v. 16, n. 1, p. 1, doi. 10.1371/journal.pone.0244863

By:

Gant, Vincent U.;
Junco, Jacob J.;
Terrell, Maci;
Rashid, Raushan;
Rabin, Karen R.

Publication type:

Article

Using Genetics in Periodontal Disease to Justify Implant Failure in Down Syndrome Patients.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2525, doi. 10.3390/jcm9082525

By:

Baus-Domínguez, Maria;
Gómez-Díaz, Raquel;
Corcuera-Flores, Jose-Ramón;
Torres-Lagares, Daniel;
Ruiz-Villandiego, José-Cruz;
Machuca-Portillo, Guillermo;
Gutiérrez-Pérez, José-Luis;
Serrera-Figallo, María-Angeles

Publication type:

Article

Autoimmunity and Genetic Syndromes: A Focus on Down Syndrome.

Published in:

Genes, 2021, v. 12, n. 2, p. 268, doi. 10.3390/genes12020268

By:

Ferrari, Marta;
Stagi, Stefano;
Vanneste, Kevin

Publication type:

Article

Down's syndrome: a genetic disorder in biobehavioral perspective.

Published in:

Genes, Brain & Behavior, 2003, v. 2, n. 3, p. 156, doi. 10.1034/j.1601-183X.2003.00026.x

By:

Nadel, L.

Publication type:

Article

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

Published in:

2015

By:

Wiseman, Frances K;
Al-Janabi, Tamara;
Hardy, John;
Karmiloff-Smith, Annette;
Nizetic, Dean;
Tybulewicz, Victor L J;
Fisher, Elizabeth M C;
Strydom, André

Publication type:

Journal Article

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

Published in:

Nature Reviews Neuroscience, 2015, v. 16, n. 9, p. 564, doi. 10.1038/nrn3983

By:

Wiseman, Frances K.;
Al-Janabi, Tamara;
Hardy, John;
Karmiloff-Smith, Annette;
Nizetic, Dean;
Tybulewicz, Victor L. J.;
Fisher, Elizabeth M. C.;
Strydom, André

Publication type:

Article

Prospects for limiting access to prenatal genetic information about Down syndrome in light of the expansion of prenatal genomics.

Published in:

New Bioethics, 2023, v. 29, n. 3, p. 226, doi. 10.1080/20502877.2022.2130720

By:

Kaposy, Chris

Publication type:

Article

Pleiotropic effects of trisomy and pharmacologic modulation on structural, functional, molecular, and genetic systems in a Down syndrome mouse model.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.89763

By:

Llambrich, Sergi;
Tielemans, Birger;
Saliën, Ellen;
Atzori, Marta;
Wouters, Kaat;
Van Bulck, Vicky;
Platt, Mark;
Vanherp, Laure;
Gallego Fernandez, Nuria;
Grau de la Fuente, Laura;
Poptani, Harish;
Verlinden, Lieve;
Himmelreich, Uwe;
Croitor, Anca;
Attanasio, Catia;
Callaerts-Vegh, Zsuzsanna;
Gsell, Willy;
Martínez-Abadías, Neus;
Vande Velde, Greetje

Publication type:

Article

Perceptions and Discourses Relating to Genetic Testing: Interviews with People with Down Syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2017, v. 30, n. 2, p. 395, doi. 10.1111/jar.12256

By:

Barter, Barbara;
Hastings, Richard Patrick;
Williams, Rebecca;
Huws, Jaci C.

Publication type:

Article

Resistance to Thyroid Hormone and Down Syndrome: Coincidental Association or Genetic Linkage?

Published in:

Thyroid, 2012, v. 22, n. 9, p. 973, doi. 10.1089/thy.2011.0316

By:

Fernández-García, José Carlos;
López-Medina, José Antonio;
Berchid-Debdi, Mohammed;
Tinahones, Francisco José

Publication type:

Article

A survey of ocular tumors in Down syndrome alone or associated with another genetic affection.

Published in:

International Journal on Disability & Human Development (De Gruyter), 2006, v. 5, n. 4, p. 311, doi. 10.1515/ijdhd.2006.5.4.311

By:

Satgé, Daniel;
Lacombe, Didier;
Vekemans, Michel J. J.;
Bonnet, Anne;
Rithoré, Marie-Odile;
Munier, Francis

Publication type:

Article

The Impact of Genetics Associated with Age of Onset of Alzheimer’s Disease in People with Down’s Syndrome Upon Beta-Amyloid and Tau Concentrations

Published in:

2011

By:

Jones, Emma;
Ballard, Clive;
Doherty, Pat

Publication type:

Abstract

P1-036: Suppression of GABAB receptors increases LTP without inducing pro-epileptic activity in the dentate gyrus of Ts65Dn mice, a genetic model for Down syndrome

Published in:

2008

By:

Kleschevnikov, Alexander M.;
Belichenko, Pavel V.;
Mobley, William

Publication type:

Abstract

"Seriousness" and the regulation of preimplantation genetic diagnosis: the case of Down's syndrome.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 20, p. S38, doi. 10.1016/S1472-6483(10)62362-0

By:

Krahn, T.

Publication type:

Article

Approaches to Studying Outcomes in Patients With Congenital Heart Disease With Genetic Syndromes: What Down Syndrome Can Teach Us.

Published in:

Journal of the American Heart Association, 2024, v. 13, n. 2, p. 1, doi. 10.1161/JAHA.123.033193

By:

Ware, Stephanie M.

Publication type:

Article