Works matching DE "TRISOMY 13 syndrome"

Results: 114

Hallazgos clínicos inusuales en un paciente con síndrome de Patau.

Published in:

Revista Mexicana de Pediatria, 2024, v. 91, n. 5, p. 181, doi. 10.35366/120168

By:

Hugo Guapi-Nauñay, Victor;
Alejandro Mejía-Jiménez, Jonathan;
David Porras-Borja, Fabián

Publication type:

Article

Cross-sectional study of epidemiology of congenital anomaly of the hand in a tertiary care centre in India over 1 year.

Published in:

Indian Journal of Plastic Surgery, 2016, v. 49, n. 3, p. 424, doi. 10.4103/0970-0358.197231

By:

Mody, Nikunj B.;
Srinivasan, Shankar;
Thatte, Mukund

Publication type:

Article

ETHICS AND LEGAL ASPECT OF TERMINATION OF PREGNANCY WITH TRISOMY 13 (PATAU SYNDROME).

Published in:

Eduvest: Journal Of Universal Studies, 2023, v. 3, n. 3, p. 552, doi. 10.59188/eduvest.v3i3.769

By:

Ratna Dewi, Dian Andriani;
Darus, Febriansyah;
Avianggi, Hayra Diah;
Rusuldi, Gunawan;
Arifin Abidin, Sutan Finekri

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

A Decade of Non-Invasive Prenatal Testing (NIPT) for Chromosomal Abnormalities in Croatia: First National Monocentric Study to Inform Country's Future Prenatal Care Strategy.

Published in:

Genes, 2024, v. 15, n. 12, p. 1590, doi. 10.3390/genes15121590

By:

Podobnik, Petra;
Meštrović, Tomislav;
Đorđević, Aida;
Kurdija, Kristian;
Jelčić, Dženis;
Ogrin, Nina;
Bertović-Žunec, Ivan;
Gebauer-Vuković, Beata;
Hočevar, Grega;
Lončar, Igor;
Srebreniković, Zlata;
Trobina, Petra;
Bitenc, Marko;
Dumić-Čule, Ivo

Publication type:

Article

Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain.

Published in:

Genes, 2024, v. 15, n. 5, p. 568, doi. 10.3390/genes15050568

By:

Pedrola Vidal, Laia;
Roselló Piera, Mónica;
Martín-Grau, Carla;
Rubio Moll, Juan S.;
Gómez Portero, Rosa;
Marcos Puig, Beatriz;
Cervera Zamora, Jose V.;
Quiroga, Ramiro;
Orellana Alonso, Carmen

Publication type:

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

THE MOST COMMON HUMAN AUTOSOMAL TRISOMIES.

Published in:

Studia Universitatis Babeş-Bolyai, Biologia, 2014, v. 59, n. 2, p. 123

By:

SZÉKELY, GYÖNGYI

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

Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates.

Published in:

2022

By:

Takashima, Kohei;
Hitosugi, Masahito

Publication type:

Letter

Reply to the Letter to the Editor "Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates".

Published in:

Neonatology (16617800), 2022, v. 119, n. 1, p. 135, doi. 10.1159/000520243

By:

Suto, Maiko;
Isayama, Tetsuya;
Takehara, Kenji;
Morisaki, Naho

Publication type:

Article

The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0407-z

By:

Li, Hongge;
Lei, Yu;
Zhu, Hui;
Luo, Yuqin;
Qian, Yeqing;
Chen, Min;
Sun, Yixi;
Yan, Kai;
Yang, Yanmei;
Liu, Bei;
Wang, Liya;
Huang, Yingzhi;
Hu, Junjie;
Xu, Jianyun;
Dong, Minyue

Publication type:

Article

Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

Published in:

Journal of Anatomy, 2015, v. 227, n. 1, p. 21, doi. 10.1111/joa.12326

By:

Reid, Shaina N.;
Ziermann, Janine M.;
Gondré‐Lewis, Marjorie 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

Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.

Published in:

2023

By:

Yang, Xiaomei;
Sun, Shiyu;
Ji, Yizheng;
Xu, Yasong;
Sun, Li;
Wu, Qichang

Publication type:

Case Study

Fetal Megacystis: Associated Structural Abnormalities and Obstetric Outcomes.

Published in:

Fetal & Pediatric Pathology, 2023, v. 42, n. 3, p. 394, doi. 10.1080/15513815.2022.2158052

By:

Sánchez-Prieto, Manuel;
Perdomo, Laura;
Cortés, Berta;
Rodríguez, Ignacio;
Prats, Pilar;
Rodríguez-Melcón, Alberto;
Barri-Soldevila, Pere;
Serra, Bernat;
Albaigés, Gerard

Publication type:

Article

Dinosaur Tail Appendix in Trisomy 13.

Published in:

2022

By:

Boșoteanu, Mădălina;
Orășanu, Cristian Ionuț;
Așchie, Mariana;
Deacu, Mariana;
Cozaru, Georgeta Camelia;
Brînzan, Costel;
Mitroi, Anca Florentina

Publication type:

Case Study

Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development.

Published in:

2017

By:

Ürel Demir, Gizem;
Doğan, Özlem Akgün;
Şimşek Kiper, Pelin Özlem;
Utine, Gülen Eda;
Boduroğlu, Koray;
Gucer, Safak;
Alikaşifoğlu, Mehmet

Publication type:

Case Study

Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples.

Published in:

PLoS Computational Biology, 2021, v. 17, n. 12, p. 1, doi. 10.1371/journal.pcbi.1009684

By:

Paluoja, Priit;
Teder, Hindrek;
Ardeshirdavani, Amin;
Bayindir, Baran;
Vermeesch, Joris;
Salumets, Andres;
Krjutškov, Kaarel;
Palta, Priit

Publication type:

Article

Detection rates of a national fetal anomaly screening programme: A national cohort study.

Published in:

BJOG: An International Journal of Obstetrics & Gynaecology, 2023, v. 130, n. 1, p. 51, doi. 10.1111/1471-0528.17287

By:

Aldridge, Nicholas;
Pandya, Pranav;
Rankin, Judith;
Miller, Nicola;
Broughan, Jennifer;
Permalloo, Nadia;
McHugh, Annette;
Stevens, Sarah

Publication type:

Article

Sex chromosome aneuploidy screening in a general population.

Published in:

Australasian Journal of Ultrasound in Medicine, 2016, v. 19, n. 3, p. 105, doi. 10.1002/ajum.12019

By:

Mizia, Karen;
Townsend, Lynn;
Karatas, Janan

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

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

Rare association of trisomy 13 with ectrodactyly and congenital diaphragmatic hernia.

Published in:

Clinical Case Reports, 2021, v. 9, n. 5, p. 1, doi. 10.1002/ccr3.4264

By:

Al Rawi, Wafaa N.;
Al‐Safi, Wala'a;
Abuobayda, Ashraf N.;
Elmansoury, Nabil S.;
Lonikar, Abhijeet S.;
Alshorman, Anas;
Maldar, Hasansaheb D.

Publication type:

Article

Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13).

Published in:

2018

By:

Watanabe, Takafumi;
Ishibashi, Makiho;
Suganuma, Ryota;
Ohara, Miki;
Soeda, Shu;
Komiya, Hiromi;
Fujimori, Keiya

Publication type:

Case Study

Mosaic trisomy 13 and constitutional delay in puberty.

Published in:

Oxford Medical Case Reports, 2022, v. 2022, n. 5, p. 1, doi. 10.1093/omcr/omac046

By:

Eltayeb, Sara Yousif Hussein;
Bashier, Alaaeldin;
Hussain, Azza Abdulaziz Khalifa Bin

Publication type:

Article

Simple and rapid detection of common fetal aneuploidies using peptide nucleic acid probe-based real-time polymerase chain reaction.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-02507-5

By:

Hong, Subeen;
Lee, Seung Mi;
Oh, Sohee;
Kim, So Yeon;
Jung, Young Mi;
Kim, Sun Min;
Park, Chan-Wook;
Jun, Jong Kwan;
Kim, Byoung Jae;
Park, Joong Shin

Publication type:

Article

A rare case of trisomy 13 mosaicism with only findings on first-trimester ultra- sound single umbilical artery and increased nuchal translucency.

Published in:

Hippokratia, 2024, v. 28, n. 1, p. 38

By:

A., Gerede;
M., Zafrakas;
P., Papasozomenou;
S., Papanikolopoulou;
A., Athanasiadis

Publication type:

Article

Milder and Later Presentation of Trisomy 13: A Case Report and Literature Review.

Published in:

Journal of the Anatomical Society of India, 2022, v. 71, n. 4, p. 321, doi. 10.4103/jasi.jasi_149_21

By:

Rashmi, N;
Kiran, H;
Rajani, H

Publication type:

Article

Identification of Fetuses at Increased Risk of Trisomies in the First Trimester Using Axial Planes.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 1, p. 1, doi. 10.1159/000533879

By:

Montaguti, Elisa;
Diglio, Josefina;
Petrachi, Benedetta;
Arosio, Viola;
Fiorentini, Marta;
Cavalera, Marta;
Pellegrino, Anita;
Amodeo, Silvia;
Lenzi, Jacopo;
Pilu, Gianluigi

Publication type:

Article

Cell-Free DNA Analysis in Maternal Blood: Differences in Estimates between Laboratories with Different Methodologies Using a Propensity Score Approach.

Published in:

2019

By:

Bevilacqua, Elisa;
Jani, Jacques C.;
Letourneau, Alexandra;
Duiella, Silvia F.;
Kleinfinger, Pascale;
Lohmann, Laurence;
Resta, Serena;
Cos Sanchez, Teresa;
Fils, Jean-François;
Mirra, Marilyn;
Benachi, Alexandra;
Costa, Jean-Marc;
Jani, Jacques C;
Duiella, Silvia F;
Cos Sanchez, Teresa

Publication type:

journal article

Intractable Nodulocystic Acne in a Patient with Trisomy 13.

Published in:

Pediatric Dermatology, 2015, v. 32, n. 3, p. 381, doi. 10.1111/pde.12511

By:

Peart, Jenna M.;
Licht, Daniel J.;
Prange, Erin O'Connor;
Treat, James R.

Publication type:

Article

A Rare Case of Neonatal Complicated Appendicitis in a Child with Patau's Syndrome.

Published in:

2014

By:

Pastore, Valentina;
Bartoli, Fabio

Publication type:

Case Study

Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report.

Published in:

2016

By:

KUNWAR, FULESH;
PANDYA, VIDHI;
BAKSHI, SONAL R.

Publication type:

Case Study

Colon Cancer in an Adult with Trisomy 13.

Published in:

2018

By:

Kim, Samuel;
Collins, Jay

Publication type:

journal article

CORRECTION.

Published in:: 2017
Publication type:: Correction Notice

Survival and Surgical Interventions for Children With Trisomy 13 and 18.

Published in:

2016

By:

Nelson, Katherine E.;
Rosella, Laura C.;
Mahant, Sanjay;
Guttmann, Astrid

Publication type:

journal article

Trisomy 13 and 18--Treatment Decisions in a Stable Gray Zone.

Published in:

2016

By:

Lantos, John D.

Publication type:

commentary

Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects.

Published in:

Journal of Genetics, 2014, v. 93, p. 18, doi. 10.1007/s12041-012-0132-z

By:

SALEMI, MICHELE;
BARONE, CONCETTA;
ROMANO, CORRADO;
ZOLEZZI, FRANCESCA;
ROMANO, CARMELO;
SCAVUZZO, CATALDO;
SALLUZZO, ROBERTO;
SCILLATO, FRANCESCO;
SIGNORELLI, MARIA;
KAPETIS, DIMOS;
SALLUZZO, MARIA;
BOSCO, PAOLO

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

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

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

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

Trisomy 13 and the risk of gestational hypertensive disorders: a population-based study.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2018, v. 31, n. 15, p. 1951, doi. 10.1080/14767058.2017.1332037

By:

Dotters-Katz, Sarah K.;
Humphrey, Whitney M.;
Senz, Kayli L.;
Lee, Vanessa R.;
Shaffer, Brian L.;
Kuller, Jeffrey A.;
Caughey, Aaron B.

Publication type:

Article

First trimester contingent screening for trisomies 21,18,13: is this model cost efficient and feasible in public health system?

Published in:

2017

By:

Colosi, Enrico;
D'Ambrosio, Valentina;
Periti, Enrico

Publication type:

journal 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

Everyone has a story to tell: The experiences of grandparents with a grandchild diagnosed with a genetic life-limiting condition.

Published in:

International Journal of Birth & Parent Education, 2015, v. 2, n. 3, p. 16

By:

Brown, Erica

Publication type:

Article

Patau syndrome.

Published in:

Paediatria Croatica, 2016, v. 60, n. 1, p. 27, doi. 10.13112/PC.2016.5

By:

Čulić, Vida;
Polić, Branka;
Mišković, Silvana;
Ivulić, Slavica Dragišić;
Zitko, Vanda;
Sipalo, Tatijana;
Pavelić, Jasminka

Publication type:

Article

Non-invasive prenatal testing for the detection of trisomy 13, 18, and 21 and sex chromosome aneuploidies in 68,763 cases.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.864076

By:

Yanchun Zhang;
Hongyan Xu;
Wen Zhang;
Kaibo Liu

Publication type:

Article