Works matching Trisomy 13 syndrome

Results: 280

A Rare Case of Early‑diagnosed Trisomy 13 Syndrome with Typical Semilobar Holoprosencephaly, Cyclopia, and Proboscis: A Case Report.

Published in:

Journal of Medical Sciences (1011-4564), 2024, v. 44, n. 3, p. 137, doi. 10.4103/jmedsci.jmedsci_120_23

By:

Tzu-Rong Liu;
Yi-An Kuo;
Chi‑Kang Lin

Publication type:

Article

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

Trisomy 13: Patau's Syndrome (A Case Report from Jammu Region of Jammu & Kashmir).

Published in:

2017

By:

Balwan, Wahied Khawar;
Saba, Neelam;
Gupta, Subhash

Publication type:

Case Study

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

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

Fiberoptik ile Birleştirilmiş Laringoskop ile Zor Pediyatrik Havayolu Yönetimi: Pierre Robin ve Patau (Trizomi 13) Sendromlu İki Olgu Sunumu.

Published in:

Turkish Journal of Anesthesia & Reanimation, 2014, v. 42, n. 6, p. 358, doi. 10.5152/TJAR.2014.30316

By:

Kılıçaslan, Alper;
Erol, Atilla;
Topal, Ahmet;
Et, Tayfun;
Otelcioğlu, Şeref

Publication type:

Article

Rare health conditions 32: psychogenic nonepileptic seizures (PNES); pseudocyesis (false pregnancy); trisomy 13 syndrome; and pseudoxanthoma elasticum (PXE)

Published in:

British Journal of Healthcare Assistants, 2020, v. 14, n. 2, p. 74, doi. 10.12968/bjha.2020.14.2.74

By:

Barber, Chris

Publication type:

Article

Temporal Bone Study of Trisomy 13 Syndrome.

Published in:

Laryngoscope, 2008, v. 118, n. 3, p. 506, doi. 10.1097/MLG.0b013e31815b2176

By:

Fukushima, Hisaki;
Schachern, Patricia A.;
Cureoglu, Sebahattin;
Paparella, Michael M.

Publication type:

Article

Patau and Edwards Syndromes in a University Hospital: beyond palliative care.

Published in:

Revista Paulista de Pediatria, 2024, v. 42, p. 1, doi. 10.1590/1984-0462/2024/42/2023053

By:

Marçola, Ligia;
Zoboli, Ivete;
Verardo Polastrini, Rita Tiziana;
de Macedo Barbosa, Silvia Maria;
Cícero Falcão, Mário;
de Vicenzi Gaiolla, Paula

Publication type:

Article

Holoprosencephaly in Patau Syndrome.

Published in:

Revista Paulista de Pediatria, 2023, v. 41, p. 1, doi. 10.1590/1984-0462/2023/41/2022027

By:

de Souza Schlosser, Amanda;
Coury Costa, Giovani José;
Salmazo da Silva, Henrique;
Menezes de Mello, Juan Luca;
de Oliveira Gomes, Lucy;
Oliveira Onoyama, Marina Michalski;
Coury Costa, Tatiana Martins

Publication type:

Article

Cochlear Implantation in a Child with Patau Syndrome.

Published in:

Journal of International Advanced Otology, 2022, v. 18, n. 6, p. 541, doi. 10.5152/iao.2022.20074

By:

Çolpan, Bahar;
Ulusoy, Bülent

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

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

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.

Published in:

Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05843-5

By:

Nord, Petra;
Ebanks, Ashley H.;
Peterson, Petra;
Iwarsson, Erik;
Harting, Matthew T.;
Burgos, Carmen Mesas

Publication type:

Article

Akalvarya birlikteliği ile giden Patau sendromu (Trizomi 13): Bir vaka takdimi.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2021, v. 64, n. 1/2, p. 13

By:

Elbayiyev, Sarkhan;
Büyükeren, Melek;
Kiper, Pelin Özlem Şimşek;
Yurdakök, Murat

Publication type:

Article

Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation.

Published in:

2009

By:

Kagan KO;
Valencia C;
Livanos P;
Wright D;
Nicolaides KH;
Kagan, K O;
Valencia, C;
Livanos, P;
Wright, D;
Nicolaides, K H

Publication type:

journal article

Rare presentation of ectrodactyly in trisomy 13.

Published in:

Journal of Clinical Neonatology, 2020, v. 9, n. 2, p. 143, doi. 10.4103/jcn.JCN_130_16

By:

Al Rawi, Wafaa;
Mustafa, Kamal;
Abuobayda, Ashraf;
Obaid, Laila

Publication type:

Article

First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.

Published in:

2016

By:

Wagner, P.;
Sonek, J.;
Hoopmann, M.;
Abele, H.;
Kagan, K. O.

Publication type:

journal article

Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2015, v. 46, n. 1, p. 60, doi. 10.1002/uog.14655

By:

Kagan, K. O.;
Sonek, J.;
Berg, X.;
Berg, C.;
Mallmann, M.;
Abele, H.;
Hoopmann, M.;
Geipel, A.

Publication type:

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

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

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

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

Colon Cancer in an Adult with Trisomy 13.

Published in:

2018

By:

Kim, Samuel;
Collins, Jay

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

SONOGRAPHIC FINDING OF HORSESHOE KIDNEY LEADING TO DIAGNOSIS OF TRISOMY 13 IN A 16 WEEKS PRIMIGRAVIDA.

Published in:

Indian Obstetrics & Gynaecology, 2023, v. 13, n. 2, p. 16

By:

Dey, Shankar;
Roy, Prasanna

Publication type:

Article

A newborn with trisomy 13 who had tetralogy of Fallot and metopic synostosis: Case report.

Published in:

2013

By:

Karabel, M.;
Yolbaş, I.;
Kelekçi, S.;
Şen, V.;
Haspolat, Y. K.;
Timuroğlu, L.

Publication type:

Case Study

Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.

Published in:

Ultrasound in Obstetrics & Gynecology, 2009, v. 33, n. 5, p. 512, doi. 10.1002/uog.6330

By:

Maiz, N.;
Valencia, C.;
Kagan, K. O.;
Wright, D.;
Nicolaides, K. H.

Publication type:

Article

Graphical image of Trisomy Ultrascan related Total edge magic labelling.

Published in:

EAI Endorsed Transactions on Pervasive Health & Technology, 2024, v. 10, n. 1, p. 1, doi. 10.4108/eetpht.10.5311

By:

Pradeepa, A.;
Sundaram, O. V. Shanmuga;
Pushpalatha, N.

Publication type:

Article

Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4804, doi. 10.3390/jcm13164804

By:

Brăila, Anca Daniela;
Damian, Constantin Marian;
Albu, Cristina-Crenguţa;
Botoacă, Oana;
Dȋră, Laurențiu Mihai;
Albu, Ştefan-Dimitrie;
Brăila, Matei Georgian;
Bănățeanu, Andreea-Mariana;
Poalelungi, Cristian-Viorel;
Bogdan-Andreescu, Claudia Florina

Publication type:

Article

HOW TO COMMUNICATE WITH A SPEECH IMPAIRED PERSON? A CASE STUDY OF A SUBJECT WITH MOSAIC PATAU SYNDROME.

Published in:

2014

By:

Rummo, Ingrid

Publication type:

Case Study

A IMPORTÂNCIA DOS CUIDADOS PALIATIVOS NO ACOMPANHAMENTO DA CRIANÇA COM SÍNDROME DE PATAU: RELATO DE CASO.

Published in:

Revista Movimenta, 2023, v. 16, n. 2, p. 263

By:

Montes Soares Fernandes, Kathlen Terezinha;
Machado e Silva, Victória Christine;
de Souza Leal, Fernanda;
Gonçalves Teixeira, Gustavo;
de Medeiros, Maja;
Moreira Avelar, Marla;
Martins Roberto Formiga, Cibelle Kayenne

Publication type:

Article

NEUTROPHILS IN THE 13(D<sub>1</sub>)-TRISOMY SYNDROME.

Published in:

Annals of the New York Academy of Sciences, 1969, v. 155, n. 3, p. 811, doi. 10.1111/j.1749-6632.1968.tb55069.x

By:

Huehns, E. R.;
Lutzner, M.;
Hechtt, F.

Publication type:

Article

NEUTROPHILS IN THE 13(D<sub>1</sub>)-TRISOMY SYNDROME.

Published in:

Annals of the New York Academy of Sciences, 1969, v. 155, n. 2, p. 811, doi. 10.1111/j.1749-6632.1969.tb50305.x

By:

Huehns, E. R.;
Lutzner, M;
Hechtt, F.

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

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

Trisomy 13 (Patau's syndrome): a rare case of survival into adulthood.

Published in:

Journal of Intellectual Disability Research, 1990, v. 34, n. 1, p. 91, doi. 10.1111/j.1365-2788.1990.tb01520.x

By:

SINGH, K. S. T.

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

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma.

Published in:

Application of Clinical Genetics, 2014, v. 7, p. 127, doi. 10.2147/TACG.S35602

By:

Gekas, Jean;
Langlois, Sylvie;
Ravitsky, Vardit;
Audibert, François;
van den Berg, David-Gradus;
Haidar, Hazar;
Rousseau, François

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

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

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