Works matching DE "TRISOMY"

Results: 1278

Ambiguous genitalia in neonates: a 4-year prospective study in a localized area.

Published in:

Eastern Mediterranean Health Journal, 2010, v. 16, n. 2, p. 214, doi. 10.26719/2010.16.2.214

By:

Al-Mulhim, A. N.;
Kamal, H. M.

Publication type:

Article

Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46,XX, der(21) t(21;22) with pericentric inversion of chromosome 9.

Published in:

2014

By:

Kar, B.

Publication type:

Letter to the Editor

Dental Management of a Child With Trisomy 9 Mosaicism: A Case Report.

Published in:

Pediatric Dentistry, 2006, v. 28, n. 3, p. 265

By:

Moskovitz, Moti;
Brener, Dan;
Annick, Raas-Rothschild

Publication type:

Article

Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.

Published in:

2021

By:

Goulart, Lissa C.;
Ferreira-Filho, Luiz A.;
da Silva, Mariana M.;
Carneiro, Israel S. B.;
Carneiro, Siderley S.;
Vilela-Filho, Osvaldo

Publication type:

Case Study

Non-invasive prenatal testing (NIPT): Europe's first multicenter post-market clinical follow-up study validating the quality in clinical routine.

Published in:

2017

By:

Flöck, Anne;
Tu, Ngoc-Chi;
Rüland, Anna;
Holzgreve, Wolfgang;
Gembruch, Ulrich;
Geipel, Annegret

Publication type:

journal article

Adjusted risk for trisomy 21 after the anomaly scan. How accurate is the Fetal Medicine Foundation algorithm?

Published in:

Archives of Gynecology & Obstetrics, 2012, v. 285, n. 2, p. 367, doi. 10.1007/s00404-011-1996-5

By:

Dagklis, Themistoklis;
Kalogiannidis, Ioannis;
Prapa, Stella;
Prapas, Yannis;
Prapas, Nikos

Publication type:

Article

Is the yolk sac a new marker for chromosomal abnormalities in early pregnancy?

Published in:

2011

By:

Schmidt, Peter;
Hörmansdörfer, Cindy;
Bosselmann, Stephan;
Elsässer, Michael;
Scharf, Alexander;
Hörmansdörfer, Cindy;
Elsässer, Michael

Publication type:

journal article

Preliminary analysis of the new ‘Prenatal Risk Calculation (PRC)’ software.

Published in:

Archives of Gynecology & Obstetrics, 2009, v. 279, n. 4, p. 511, doi. 10.1007/s00404-008-0743-z

By:

Hörmansdörfer, Cindy;
Scharf, A.;
Golatta, M.;
Vaske, B.;
Hillemanns, P.;
Schmidt, P.

Publication type:

Article

Cystic hygroma and lymphangioma: associated findings, perinatal outcome and prognostic factors in live-born infants.

Published in:

2007

By:

Gedikbasi, Ali;
Gul, Ahmet;
Sargin, Akif;
Ceylan, Yavuz

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

Are nuchal translucency, pregnancy associated plasma protein-A or free-β-human chorionic gonadotropin depending on maternal age? A multicenter study of 8,116 pregnancies.

Published in:

Archives of Gynecology & Obstetrics, 2007, v. 276, n. 3, p. 259, doi. 10.1007/s00404-007-0342-4

By:

Schmidt, Peter;
Pruggmayer, Michael;
Steinborn, Andrea;
Schippert, Cordula;
Staboulidou, Ismini;
Hillemanns, Peter;
Scharf, Alexander

Publication type:

Article

Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature.

Published in:

2007

By:

Capobianco, Giampiero;
Cherchi, Pier;
Ambrosini, Guido;
Cosmi, Erich;
Andrisani, Alessandra;
Dessole, Salvatore;
Cherchi, Pier Luigi

Publication type:

journal article

Prenatal diagnosis of trisomy 18 as true mosaicism by three-dimensional ultrasonography: a case report.

Published in:

2007

By:

Guimarães Filho, Hélio Antonio;
Araujo Júnior, Edward;
Mattar, Rosiane;
Pires, Cláudio R.;
Zanforlin Filho, Sebastião;
Moron, Antonio F.;
Nardoza, Luciano Marcondes Machado;
Guimarães Filho, Hélio Antonio;
Araujo Júnior, Edward;
Pires, Cláudio R;
Zanforlin Filho, Sebastião Marques;
Nardozza, Luciano Marcondes Machado

Publication type:

journal article

Prenatal diagnosis of a supernumerary aberrant chromosome 9.

Published in:

Archives of Gynecology & Obstetrics, 2003, v. 268, n. 3, p. 248, doi. 10.1007/s00404-002-0355-y

By:

Hengstschläger, M.;
Bettelheim, D.;
Dörfler-Grassauer, D.;
Prusa, A.-R.;
Drahonsky, R.;
Deutinger, J.;
Bernaschek, G.

Publication type:

Article

Extracellular association of APP and tau fibrils induces intracellular aggregate formation of tau.

Published in:

Acta Neuropathologica, 2015, v. 129, n. 6, p. 895, doi. 10.1007/s00401-015-1415-2

By:

Takahashi, Muneaki;
Miyata, Haruka;
Kametani, Fuyuki;
Nonaka, Takashi;
Akiyama, Haruhiko;
Hisanaga, Shin-ichi;
Hasegawa, Masato

Publication type:

Article

Intraneuronal APP and extracellular Aβ independently cause dendritic spine pathology in transgenic mouse models of Alzheimer's disease.

Published in:

Acta Neuropathologica, 2015, v. 129, n. 6, p. 909, doi. 10.1007/s00401-015-1421-4

By:

Zou, Chengyu;
Montagna, Elena;
Shi, Yuan;
Peters, Finn;
Blazquez-Llorca, Lidia;
Shi, Song;
Filser, Severin;
Dorostkar, Mario;
Herms, Jochen

Publication type:

Article

Teratoma with trisomy 16 in a baboon (Papio hamadryas ).

Published in:

American Journal of Primatology, 1998, v. 46, n. 4, p. 323, doi. 10.1002/(SICI)1098-2345(1998)46:4<323::AID-AJP4>3.0.CO;2-B

By:

Moore, Charleen M.;
McKeand, Jennifer;
Witte, Shelley M.;
Hubbard, Gene B.;
Rogers, Jeffrey;
Leland, M. Michelle

Publication type:

Article

Usp16 contributes to somatic stem-cell defects in Down's syndrome.

Published in:

Nature, 2013, v. 501, n. 7467, p. 380, doi. 10.1038/nature12530

By:

Adorno, Maddalena;
Sikandar, Shaheen;
Mitra, Siddhartha S.;
Kuo, Angera;
Di Robilant, Benedetta Nicolis;
Haro-Acosta, Veronica;
Ouadah, Youcef;
Quarta, Marco;
Rodriguez, Jacqueline;
Qian, Dalong;
Reddy, Vadiyala M.;
Cheshier, Samuel;
Garner, Craig C.;
Clarke, Michael F.

Publication type:

Article

User Experience of a Computer-Based Decision Aid for Prenatal Trisomy Screening: Mixed Methods Explanatory Study.

Published in:

JMIR Pediatrics & Parenting, 2022, v. 5, n. 3, p. 1, doi. 10.2196/35381

By:

Agbadje, Titilayo Tatiana;
Pilon, Chantale;
Bérubé, Pierre;
Forest, Jean-Claude;
Rousseau, François;
Rahimi, Samira Abbasgholizadeh;
Giguère, Yves;
Légaré, France

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

Pleuropulmonary blastoma in an adult patient: Report of a case.

Published in:

2007

By:

Gönüllü, Güzın;
Evrensel, Türkkan;
Kurt, Ender;
Aydin, Şaduman;
Bayram, Samı;
Aydin, FıLız;
Yilmazbayhan, Dılek;
Manavoğlu, Osman

Publication type:

Case Study

Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis.

Published in:

Turkish Journal of Medical Sciences, 2015, v. 45, n. 6, p. 1263, doi. 10.3906/sag-1312-161

By:

SAVLI, Hakan;
EREN KESKİN, Seda;
ÇİNE, Naci

Publication type:

Article

Linear and Whorled Nevoid Hypermelanosis in Trisomy 13.

Published in:

Turkish Journal of Medical Sciences, 2009, v. 39, n. 2, p. 321

By:

Yüksel, Şengül;
Savaci, Serap;
Biçak, Uğur;
Yakinci, Cengiz;
Mizrak, Bülent

Publication type:

Article

Different Segregation of Chromosomes 5 and 7 in Two Generations and Related Phenotypic Findings.

Published in:

Turkish Journal of Medical Sciences, 2008, v. 38, n. 4, p. 287

By:

Demrıhan, Osman;
Tunali, Nurdan;
Erdoğan, Şeyda;
TaştemıR, Deniz;
Tunç, Erdal

Publication type:

Article

Correlation Between Down Syndrome and the Level of Placental Alkaline Phosphatase in Amniotic Fluid.

Published in:

Turkish Journal of Medical Sciences, 2005, v. 35, n. 5, p. 311

By:

Uçar, Canan;
Balci, Sevým;
Tunçbýlek, Ergül;
Ünsal, Ýbrahým

Publication type:

Article

Prenatal Diagnosis of a Trisomy 13 Case Associated with Holoprosencephaly by Ultrasonography and Quantitative Fluorescent PCR.

Published in:

Turkish Journal of Medical Sciences, 2005, v. 35, n. 3, p. 179

By:

Late Satirolu Tufan, N.;
çEvik Tufan, A.;
Akyildirim, Bal;
Kaleli, Babur;
Nur Semerc, C.;
Bir, Ferda;
Duzcan, Fusun;
Bagci, Huseyin

Publication type:

Article

Detection of Copy Number Variation by SNP-Allelotyping.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 1, p. 4, doi. 10.3109/01677063.2014.923884

By:

Parker, Brett;
Alexander, Ryan;
Wu, Xingyao;
Feely, Shawna;
Shy, Michael;
Schnetz-Boutaud, Nathalie;
Li, Jun

Publication type:

Article

Long-term survival of full trisomy 13 in a 14 year old male: a case report.

Published in:

2016

By:

IMATAKA, G.;
HAGISAWA, S.;
NITTA, A.;
HIRABAYASHI, H.;
SUZUMURA, H.;
ARISAKA, O.

Publication type:

Case Study

DYRK1A Protein, A Promising Therapeutic Target to Improve Cognitive Deficits in Down Syndrome.

Published in:

Brain Sciences (2076-3425), 2018, v. 8, n. 10, p. 187, doi. 10.3390/brainsci8100187

By:

Feki, Anis;
Hibaoui, Youssef

Publication type:

Article

Congenital diaphragmatic hernia and double-outlet right ventricle: elements of trisomy 18?

Published in:

2018

By:

Kollia, Maria;
Sokou, Rozeta;
Patsouras, George;
Panagiotounakou, Polytimi;
Iacovidou, Nicoletta;
Konstantinidi, Aikaterini

Publication type:

Case Study

Chronic myelomonocytic leukaemia after platinum-based therapy for non-small cell lung cancer: case report and review of the literature.

Published in:

Journal of Clinical Pharmacy & Therapeutics, 2006, v. 31, n. 4, p. 401, doi. 10.1111/j.1365-2710.2006.00748.x

By:

Kim, K. B.;
Faderl, S.;
Hwang, C. S.;
Khuri, F. R.

Publication type:

Article

De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue.

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00132

By:

Matsubara, Keiko;
Yanagida, Kaede;
Nagai, Toshiro;
Kagami, Masayo;
Fukami, Maki

Publication type:

Article

Increased IFN--α--induced sensitivity but reduced reactivity of 2′,5′--oligoadenylate synthetase (2,5AS) in trisomy 21 blood lymphocytes.

Published in:

Clinical & Experimental Immunology, 1993, v. 93, n. 1, p. 93, doi. 10.1111/1365-2249.ep15996317

By:

Gerdes, A. M.;
Hørder, M.;
Bonnevie-Nielsen, V.

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

Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter.

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 1, p. 45, doi. 10.1080/13816810590918398

By:

Cohn, Amy C.;
Kearns, Lisa S.;
Savarirayan, Ravi;
Ryan, Jacinta;
Craig, Jamie E.;
Mackey, David A.

Publication type:

Article

Multiple Congenital Malformations Including Severe Eye Anomalies and Abnormal Cerebellar Development with Dandy-Walker Malformation in a Girl with Partial Trisomy 3q.

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 1, p. 37, doi. 10.1080/13816810590927217

By:

Moreira, Li´lia Maria de Azevedo;
Neri, Fa´tima Bittencourt;
Uzeˆda, Sheila de Quadros;
Carvalho, Aca´cia Fernandes Lacerda de;
Santana, Gustavo Costa;
Souza, Fabiana Rocha;
Rollemberg, Jose´ Cortes

Publication type:

Article

Ocular manifestation of mosaic trisomy 22: A case report and review of the literature.

Published in:

Ophthalmic Genetics, 2004, v. 25, n. 1, p. 53, doi. 10.1076/opge.25.1.53.29004

By:

Thomas, S.;
Parker, M.;
Tan, J.;
Duckett, D.;
Woodruff, G.

Publication type:

Article

Interstitial deletion of 13q and a 13;X chromosomes translocation results in partial trisomy 13 and bilateral retinoblastoma.

Published in:

Ophthalmic Genetics, 2003, v. 24, n. 3, p. 175, doi. 10.1076/opge.24.3.175.15612

By:

Dries, David;
Baca, Katrina;
Truss, Lisa;
Dobin, Sheila

Publication type:

Article

Ophthalmic manifestations of trisomy 8 mosaic syndrome.

Published in:

Ophthalmic Genetics, 1998, v. 19, n. 2, p. 81, doi. 10.1076/opge.19.2.81.2324

By:

Anwar, S.;
Bradshaw, K.;
Vivian, A.J.

Publication type:

Article

A case of microphthalmos with cyst and partial trisomy 22.

Published in:

Ophthalmic Genetics, 1998, v. 19, n. 2, p. 93, doi. 10.1076/opge.19.2.93.2319

By:

Kodama, Tatsuo;
Shibuya, Yuzo;
Setogawa, Tomoichi;
Hasegawa, Yuki;
Yamaguchi, Seiji;
Hirayama, Yoshiaki

Publication type:

Article

A novel mutation in the renal V2 receptor gene in a boy with trisomy 21.

Published in:

Pediatric Nephrology, 2004, v. 19, n. 6, p. 609, doi. 10.1007/s00467-004-1446-8

By:

Fujisawa, Yasuko;
Miyamoto, Takeshi;
Furuhashi, Kyo;
Sano, Shinichiro;
Nakagawa, Yuichi;
Ohzeki, Takehiko

Publication type:

Article

Development of mixed connective tissue disease and Sjögren’s syndrome in a patient with trisomy X.

Published in:

2015

By:

Fujimoto, M.;
Ikeda, K.;
Nakamura, T.;
Iwamoto, T.;
Furuta, S.;
Nakajima, H.

Publication type:

Case Study

Anesthetic experience for laparoscopic cholecystectomy in a patient with myelodysplastic syndrome with trisomy 8 mosaicism syndrome.

Published in:

2014

By:

Mae Hwa Kang;
Kyeung Sin Sim;
Yi Hwa Choi;
Soo Kyung Lee;
Eun Young Park

Publication type:

Case Study

Pseudoisodicentric Xp Chromosome [46,X,psu idic(X)(q21.1)] and Its Effect on Growth and Pubertal Development.

Published in:

Hormone Research in Paediatrics, 2014, v. 81, n. 6, p. 416, doi. 10.1159/000357141

By:

van der Kamp, H.J.;
Kant, S.G.;
Ruivenkamp, C.a.L.;
Gijsbers, a.C.J.;
Haring, D.;
Oostdijk, W.

Publication type:

Article

Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature.

Published in:

Hormone Research in Paediatrics, 2010, v. 74, n. 4, p. 297, doi. 10.1159/000309418

By:

del Rey, Graciela;
Jasper, Héctor;
Bengolea, Sonia Viviana;
Boywitt, Adriana;
De Bellis, Rodolfo;
Heinrich, Juan Jorge

Publication type:

Article

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.

Published in:

Genes, 2024, v. 15, n. 3, p. 346, doi. 10.3390/genes15030346

By:

Trevisan, Valentina;
Meroni, Anna;
Leoni, Chiara;
Sirchia, Fabio;
Politano, Davide;
Fiandrino, Giacomo;
Giorgio, Valentina;
Rigante, Donato;
Limongelli, Domenico;
Perri, Lucrezia;
Sforza, Elisabetta;
Leonardi, Francesca;
Viscogliosi, Germana;
Contaldo, Ilaria;
Orteschi, Daniela;
Proietti, Luca;
Zampino, Giuseppe;
Onesimo, Roberta

Publication type:

Article

Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7.

Published in:

Genes, 2023, v. 14, n. 9, p. 1700, doi. 10.3390/genes14091700

By:

Villa, Nicoletta;
Redaelli, Serena;
Farina, Stefania;
Conconi, Donatella;
Sala, Elena Maria;
Crosti, Francesca;
Mariani, Silvana;
Colombo, Carla Maria;
Dalprà, Leda;
Lavitrano, Marialuisa;
Bentivegna, Angela;
Roversi, Gaia

Publication type:

Article

Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies.

Published in:

Genes, 2023, v. 14, n. 5, p. 982, doi. 10.3390/genes14050982

By:

De Falco, Luigia;
Savarese, Giovanni;
Savarese, Pasquale;
Petrillo, Nadia;
Ianniello, Monica;
Ruggiero, Raffaella;
Suero, Teresa;
Barbato, Cosimo;
Mori, Alessio;
Ramiro, Cristina;
Della Corte, Luigi;
Saccone, Gabriele;
Di Spiezio Sardo, Attilio;
Fico, Antonio

Publication type:

Article

Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing.

Published in:

Genes, 2023, v. 14, n. 4, p. 913, doi. 10.3390/genes14040913

By:

Talantova, Olga E.;
Koltsova, Alla S.;
Tikhonov, Andrei V.;
Pendina, Anna A.;
Malysheva, Olga V.;
Tarasenko, Olga A.;
Vashukova, Elena S.;
Shabanova, Elena S.;
Golubeva, Arina V.;
Chiryaeva, Olga G.;
Glotov, Andrey S.;
Bespalova, Olesya N.;
Efimova, Olga A.

Publication type:

Article

A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101762

By:

M'Kacher, Radhia;
Miguet, Marguerite;
Maillard, Pierre-Yves;
Colicchio, Bruno;
Scheidecker, Sophie;
Najar, Wala;
Arnoux, Micheline;
Oudrhiri, Noufissa;
Borie, Claire;
Biehler, Margaux;
Plesch, Andreas;
Heidingsfelder, Leonhard;
Bennaceur-Griscelli, Annelise;
Dieterlen, Alain;
Voisin, Philippe;
Junker, Steffen;
Carde, Patrice;
Jeandidier, Eric

Publication type:

Article