Works matching Trisomy

Results: 5000

CONDUCTA MÉDICA FRENTE AL DIAGNÓSTICO PRENATAL DE TRISOMÍA 18: ¿SE APROXIMA UN CAMBIO DE PARADIGMA?

Published in:

Persona y Bioética, 2022, v. 26, n. 2, p. 1, doi. 10.5294/PEBI.2022.26.2.6

By:

Grimaux, Guadalupe;
Páez, Gustavo

Publication type:

Article

Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.

Published in:

Revista Paulista de Pediatria, 2013, v. 31, n. 1, p. 117

By:

Rosa, Rafael Fabiano M.;
Rosa, Rosana Cardoso M.;
Zen, Paulo Ricardo G.;
Graziadio, Carla;
Paskulin, Giorgio Adriano

Publication type:

Article

Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients.

Published in:

Laryngoscope, 2023, v. 133, n. 6, p. 1501, doi. 10.1002/lary.30350

By:

Benson, Jalen;
Stewart, Candace;
Kenna, Margaret A.;
Shearer, A. Eliot

Publication type:

Article

Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease.

Published in:

Life (2075-1729), 2022, v. 12, n. 8, p. 1223, doi. 10.3390/life12081223

By:

Springer, Stephanie;
Karner, Eva;
Worda, Christof;
Grabner, Maria Magdalena;
Seidl-Mlczoch, Elisabeth;
Laccone, Franco;
Neesen, Jürgen;
Scharrer, Anke;
Ulm, Barbara

Publication type:

Article

Medical interventions for children with trisomy 13 and trisomy 18: what is the value of a short disabled life?

Published in:

Acta Paediatrica, 2013, v. 102, n. 12, p. 1112, doi. 10.1111/apa.12424

By:

Janvier, Annie;
Watkins, Andrew

Publication type:

Article

The natural history of pregnancies with a diagnosis of Trisomy 18 or Trisomy 13; a retrospective case series.

Published in:

BMC Pregnancy & Childbirth, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2393-13-209

By:

Houlihan, Orla A.;
O'Donoghue, Keelin

Publication type:

Article

Early assessment of clinical complexity and home care in patients affected by trisomy 13 and 18.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 3, p. 1, doi. 10.1007/s00431-025-06020-z

By:

Zanin, Anna;
Patti, Matteo;
Rosato, Isabella;
Divisic, Antuan;
Rusalen, Francesca;
Maghini, Irene;
Agosto, Caterina;
Benini, Franca

Publication type:

Article

Communication Ability in Persons with Trisomy 18 and Trisomy 13.

Published in:

AAC: Augmentative & Alternative Communication, 2012, v. 28, n. 4, p. 266, doi. 10.3109/07434618.2012.706637

By:

Braddock, Barbara;
McDaniel, Jena;
Spragge, Sara;
Loncke, Filip;
Braddock, Stephen R.;
Carey, John C.

Publication type:

Article

Cephalic index is not a useful sonographic marker for trisomy 21 and trisomy 18.

Published in:

2004

By:

Lim, Kenneth I.;
Delisle, Marie-France;
Austin, Sandra J.;
Wilson, R. Douglas

Publication type:

journal article

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.

Published in:

Genes, 2022, v. 13, n. 11, p. 2027, doi. 10.3390/genes13112027

By:

Kleinfinger, Pascale;
Luscan, Armelle;
Descourvieres, Léa;
Buzas, Daniela;
Boughalem, Aicha;
Serero, Stéphane;
Valduga, Mylène;
Trost, Detlef;
Costa, Jean-Marc;
Vivanti, Alexandre J.;
Lohmann, Laurence

Publication type:

Article

New osseous soft markers for trisomy 13, 18 and 21.

Published in:

2016

By:

Achter, Annika;
Hager, Thomas;
Fimmers, Rolf;
Gembruch, Ulrich;
Müller, Annette;
Müller, Annette M

Publication type:

journal article

A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancy.

Published in:

Archives of Gynecology & Obstetrics, 2007, v. 276, n. 5, p. 533, doi. 10.1007/s00404-007-0378-5

By:

Pelikan, Harold M. P.;
Bijlsma, Emilia K.;
van Wijngaarden, Willem J.

Publication type:

Article

First-trimester screening for trisomy 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, n. 2, p. 140, doi. 10.1002/uog.8929

By:

Ekelund, C. K.;
Petersen, O. B.;
Skibsted, L.;
Kjaergaard, S.;
Vogel, I.;
Tabor, A.

Publication type:

Article

Factors Influencing Outcomes After Cardiac Intervention in Infants with Trisomy 13 and 18.

Published in:

Pediatric Cardiology, 2018, v. 39, n. 1, p. 140, doi. 10.1007/s00246-017-1738-y

By:

Peterson, Renuka;
Calamur, Nandini;
Fiore, Andrew;
Huddleston, Charles;
Spence, Kimberly

Publication type:

Article

A Contemporary, Single-Institutional Experience of Surgical Versus Expectant Management of Congenital Heart Disease in Trisomy 13 and 18 Patients.

Published in:

Pediatric Cardiology, 2015, v. 36, n. 5, p. 987, doi. 10.1007/s00246-015-1109-5

By:

Costello, John;
Weiderhold, Allison;
Louis, Clauden;
Shaughnessy, Conner;
Peer, Syed;
Zurakowski, David;
Jonas, Richard;
Nath, Dilip

Publication type:

Article

Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1787, doi. 10.3390/jcm11071787

By:

Buczyńska, Angelika;
Sidorkiewicz, Iwona;
Hameed, Ahsan;
Krętowski, Adam Jacek;
Zbucka-Krętowska, Monika

Publication type:

Article

Oral health needs in individuals with trisomy 18 and trisomy 13: Implications for dental professionals.

Published in:

2016

By:

Bruns, Deborah;
Martinez, Alyssa;
All Campbell, Emily;
Campbell, Emily All

Publication type:

journal article

Childhood Myelodysplastic Syndrome Progressing to Pre-B Acute Lymphoblastic Leukemia in Two Children with Trisomy 5 and Trisomy 8.

Published in:

Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2021, v. 30, n. 2, p. 156, doi. 10.5336/pediatr.2020-80991

By:

YILMAZ, Barış;
KOÇ, Ahmet

Publication type:

Article

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1762

By:

Morán‐Barroso, Verónica Fabiola;
Cervantes, Alicia;
Rivera‐Vega, María del Refugio;
del Castillo‐Moreno, Adriana;
Moreno‐Chacón, Alejandra;
Mejía‐Cauich, Estefanía;
Contreras‐Ortiz, Laura Eréndira;
Fernández‐Ramírez, Fernando

Publication type:

Article

Communicating with parents of children with trisomy 13 or 18 who seek cardiac interventions.

Published in:

Cardiology in the Young, 2021, v. 31, n. 3, p. 471, doi. 10.1017/S1047951120004023

By:

Weaver, Meaghann S.;
Lantos, John;
Hauschild, Kelly;
Hammel, James;
Birge, Nicole;
Janvier, Annie

Publication type:

Article

Reported communication ability of persons with trisomy 18 and trisomy 13.

Published in:

Developmental Neurorehabilitation, 2015, v. 18, n. 5, p. 322, doi. 10.3109/17518423.2013.847980

By:

Liang, Cheryl A.;
Braddock, Barbara A.;
Heithaus, Jennifer L.;
Christensen, Katherine M.;
Braddock, Stephen R.;
Carey, John C.

Publication type:

Article

Early diagnosis of trisomy 21, trisomy 18 and trisomy 13 using nuchal translucency thickness and ductus venosus blood flow waveform in West China.

Published in:

Molecular Medicine Reports, 2019, v. 19, n. 2, p. 1349

By:

Tang, Ying;
Luo, Hong;
Mu, Dezhi;
Yang, Taizhu;
Zhu, Qi;
Yang, Fan;
Liu, Guanjian

Publication type:

Article

Quantitative and qualitative Ductus Venosus blood flow evaluation in the screening for Trisomy 18 and 13 -- suitability study.

Published in:

Ginekologia Polska, 2020, v. 91, n. 3, p. 144, doi. 10.5603/GP.2020.0031

By:

Czuba, Bartosz;
Nycz-Reska, Malgorzata;
Cnota, Wojciech;
Jagielska, Agnieszka;
Wloch, Agata;
Borowski, Dariusz;
Wegrzyn, Piotr

Publication type:

Article

Antenatal reflex DNA screening for trisomy 18 and trisomy 13 in addition to Down’s syndrome.

Published in:

Journal of Medical Screening, 2016, v. 23, n. 4, p. 171, doi. 10.1177/0969141315617982

By:

Bestwick, Jonathan P.;
Wald, Nicholas J.

Publication type:

Article

Sequential integrated antenatal screening for Down’s syndrome, trisomy 18 and trisomy 13.

Published in:

Journal of Medical Screening, 2016, v. 23, n. 3, p. 116, doi. 10.1177/0969141315608895

By:

Bestwick, Jonathan P.;
Wald, Nicholas J.

Publication type:

Article

Antenatal screening for Down’s syndrome, trisomy 18, and trisomy 13: Reporting a single screening result for all three.

Published in:

Journal of Medical Screening, 2015, v. 22, n. 2, p. 100, doi. 10.1177/0969141315575545

By:

Bestwick, Jonathan P;
Wald, Nicholas J

Publication type:

Article

Trisomy 19 is associated with trisomy 12 and mutated IGHV genes in B-chronic lymphocytic leukaemia.

Published in:

British Journal of Haematology, 2007, v. 138, n. 2, p. 217, doi. 10.1111/j.1365-2141.2007.06636.x

By:

Sellmann, Ludger;
Gesk, Stefan;
Walter, Christoph;
Ritgen, Matthias;
Harder, Lana;
Martín-Subero, José I.;
Schroers, Roland;
Siemer, Dörte;
Nückel, Holger;
Dyer, Martin J. S.;
Dührsen, Ulrich;
Siebert, Reiner;
Dürig, Jan;
Küppers, Ralf

Publication type:

Article

The incidences of trisomy 8, trisomy 9 and D20S108 deletion in polycythaemia vera: an analysis of blood granulocytes using interphase fluorescence in situ hybridization.

Published in:

British Journal of Haematology, 2000, v. 110, n. 4, p. 839, doi. 10.1046/j.1365-2141.2000.02242.x

By:

Westwood, N. B.;
Gruszka-Westwood, A. M.;
Pearson, C. E.;
DeLord, C. F. M.;
Green, A. R.;
Huntly, B. J. P.;
Lakhani, A.;
McMullin, M. F.;
Pearson, T. C.

Publication type:

Article

The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands.

Published in:

2017

By:

Bouman, Katelijne;
Bakker, Marian K.;
Birnie, Erwin;
Beek, Lies ter;
Bilardo, Caterina M.;
van Langen, Irene M.;
de Walle, Hermien E. K.;
Ter Beek, Lies

Publication type:

journal article

Morbidity and mortality following noncardiac surgical procedures among children with autosomal trisomy.

Published in:

Pediatric Anesthesia, 2022, v. 32, n. 5, p. 631, doi. 10.1111/pan.14415

By:

Matthews, Leslie J.;
Mpody, Christian;
Nafiu, Olubukola O.;
Tobias, Joseph D.

Publication type:

Article

Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation.

Published in:

Cytogenetic & Genome Research, 2020, v. 160, n. 3, p. 124, doi. 10.1159/000506430

By:

Mohamed, amal M.;
Eid, Maha M.;
Eid, Ola M.;
Hussein, Shymaa H.;
Mossaad, aida M.;
abdelfattah, Usama;
Sharafuddin, Mohab a.;
El Halafawy, Yasser M.;
Elbanoby, Tarek M.;
abdel-Salam, Ghada M.H.

Publication type:

Article

Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies.

Published in:

Cytogenetic & Genome Research, 2019, v. 159, n. 3, p. 137, doi. 10.1159/000504238

By:

Massara, Lucía S.;
Delea, Marisol;
Espeche, Lucía;
Bruque, Carlos D.;
Oliveri, Jaen;
Brun, Paloma;
Furforo, Lilian;
Dain, Liliana;
Rozental, Sandra

Publication type:

Article

Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.

Published in:

Malaysian Journal of Pathology, 2022, v. 44, n. 2, p. 235

By:

ANKATHIL, Ravindran;
ZAKARIA, Wan Nur Amalina;
ROSTENBERGHE, Hans Van;
IBRAHIM, Nor Rosidah;
RAMLI, Noraida;
ISMAIL, Siti Mariam;
MOHD NAWI, Nurul Alia;
MAT ZIN, Nik Mohd Zulfikri;
RAMLI, Norhidayah;
ABU BAKAR, Zulaikha;
RASUDIN, Nur Fatin Syahirah;
BOON HOCK, Chia;
MOHD ADAM, Nor Atifah;
MOHD YUNUS, Nazihah;
ANNUAR, Aziati Azwari;
SULONG, Sarina;
ALWI, Zilfalil

Publication type:

Article

Optic Disc Coloboma and Localized Chorioretinal Defects in Constitutional Partial Trisomy 8 Mosaicism

Published in:

Ophthalmic Genetics, 2006, v. 27, n. 3, p. 103, doi. 10.1080/13816810600862543

By:

Taban, Mehryar;
Marcotty, Andreas;
Traboulsi, Elias I.

Publication type:

Article

Trisomy 22: First and Second Trimester Cytogenetic Analysis and Phenotypic Presentation in a Series of Seven Cases.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 2, p. 112, doi. 10.1159/000534619

By:

Minella, Chris;
Jeandidier, Eric;
Koch, Antoine;
Antal, Maria Cristina;
Favre, Romain;
Sananes, Nicolas;
Weingertner, Anne-Sophie

Publication type:

Article

High‐flow nasal cannula oxygen therapy for respiratory management after postoperative re‐intubation/re‐extubation in patients with trisomy 18 and trisomy 13: Two case reports.

Published in:

2023

By:

Hirano, Hirofumi;
Taniguchi, Yoshie;
Kato, Masato

Publication type:

Case Study

Partial trisomy 9: prenatal diagnosis and recurrence within same family.

Published in:

Clinical Case Reports, 2017, v. 5, n. 6, p. 986, doi. 10.1002/ccr3.970

By:

López‐Félix, Jana;
Flores‐Gallegos, Leticia;
Garduño‐Zarazúa, Luz;
Leis‐Márquez, Teresa;
Juárez‐García, Luz;
Meléndez‐Hernández, Ricardo;
Castelazo‐Morales, Ernesto;
Mayén‐Molina, Dora

Publication type:

Article

Ultrasound in Trisomy 18 and 13.

Published in:

Journal of the Turkish-German Gynecological Association, 2009, v. 10, n. 4, p. 218

By:

Gedıkbaşi, Ali;
Gül, Ahmet;
Sargin, Akif;
Günay, Taner;
Ceylan, Yavuz

Publication type:

Article

Ultrasound in Trisomy 18 and 13.

Published in:

Journal of the Turkish-German Gynecological Association, 2008, v. 9, n. 4, p. 218

By:

GEDİKBAŞI, Ali;
GÜL, Ahmet;
SARGIN, Akif;
GÜNAY, Taner;
CEYLAN, Yavuz

Publication type:

Article

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 3, p. 287

By:

Utine, G. Eda;
Alanay, Yasemin;
Aktaş, Dilek;
Talim, Beril;
Kale, Gülsev;
Tunçbilek, Ergül

Publication type:

Article

The indications for early prenatal diagnosis of trisomy 18: a 7-year experience at mainland China.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2020, v. 33, n. 12, p. 2038, doi. 10.1080/14767058.2018.1536741

By:

Zhen, Li;
Tian, Qi;
Pan, Min;
Han, Jin;
Yang, Xin;
Li, Dong-Zhi

Publication type:

Article

Obstetric practice patterns in pregnancies complicated by fetal trisomy 13 or 18.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2018, v. 31, n. 18, p. 2441, doi. 10.1080/14767058.2017.1344638

By:

Dotters-Katz, Sarah K.;
Smid, Marcela C.;
Mcelwain, Cora;
Schulkin, Jay;
Kuller, Jeffrey A.

Publication type:

Article

Adding ADAM12 in risk calculation program does not improve the detection rate of trisomies 18 and 13 in first trimester screening.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2012, v. 25, n. 6, p. 822, doi. 10.3109/14767058.2011.590559

By:

Valinen, Yrtti;
Marttala, Jaana;
Sahravand, Maarit;
Jarvela, Ilkka;
Honkasalo, Timppa;
Laitinen, Paivi;
Ryynanen, Markku

Publication type:

Article

Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2011, v. 24, n. 1, p. 137, doi. 10.3109/14767051003758879

By:

Irving, Claire;
Richmond, Sam;
Wren, Christoper;
Longster, Caitlin;
Embleton, Nicholas D.

Publication type:

Article

Dilated Fourth Ventricle in Fetuses with Trisomy 18, Trisomy 13 and Triploidy at 11-13 Weeks' Gestation.

Published in:

Fetal Diagnosis & Therapy, 2012, v. 32, n. 3, p. 186, doi. 10.1159/000338113

By:

Loureiro, Teresa;
Ferreira, Ana Fatima A.;
Ushakov, Fred;
Montenegro, Nuno;
Nicolaides, Kypros H.

Publication type:

Article

Perinatal Care and Outcome of Fetuses with Trisomies 13 and 18 following a Parental Decision Not to Terminate the Pregnancy.

Published in:

Fetal Diagnosis & Therapy, 2011, v. 29, n. 3, p. 233, doi. 10.1159/000322133

By:

Sibiude, Jeanne;
Gavard, Laurent;
Floch-Tudal, Corinne;
Mandelbrot, Laurent

Publication type:

Article

Impact of Quality of Nuchal Translucency Measurements on Detection Rates of Trisomies 13 and 18.

Published in:

Fetal Diagnosis & Therapy, 2010, v. 27, n. 2, p. 68, doi. 10.1159/000291490

By:

Evans, Mark I.;
Pergament, Eugene

Publication type:

Article

Phenotypic Expression in the First Case of Complete Trisomy 12: Combination of Prenatal Ultrasound and Necropsic Examination.

Published in:

Fetal Diagnosis & Therapy, 2009, v. 25, n. 2, p. 234, doi. 10.1159/000222666

By:

Machado, Ana Paula;
Ramalho, Carla;
Loureiro, Teresa;
Cunha, Manuela;
Dória, Sofia;
Carvalho, Filipa;
Oliveira, João Paulo;
Brandão, Otília;
Matias, Alexandra

Publication type:

Article

Comparison of the New PRC Software with the Established Algorithm of the FMF UK for the Detection of Trisomy 21 and 18/13.

Published in:

Fetal Diagnosis & Therapy, 2008, v. 24, n. 4, p. 376, doi. 10.1159/000165116

By:

Lüthgens, K.

Publication type:

Article

Secondary non‐invasive prenatal screening for fetal trisomy: an effectiveness study in a public health setting.

Published in:

BJOG: An International Journal of Obstetrics & Gynaecology, 2021, v. 128, n. 2, p. 440, doi. 10.1111/1471-0528.16464

By:

Guy, GP;
Hargrave, J;
Dunn, R;
Price, K;
Short, J;
Thilaganathan, B

Publication type:

Article