Works matching DE "TRIPLE X syndrome"

Results: 26

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.

Published in:

2010

By:

Lalatta, Faustina;
Quagliarini, Donatella;
Folliero, Emanuela;
Cavallari, Ugo;
Gentilin, Barbara;
Castorina, Pierangela;
Forzano, Francesca;
Forzano, Serena;
Grosso, Enrico;
Viassolo, Valeria;
Naretto, Valeria;
Gattone, Stefania;
Ceriani, Florinda;
Faravelli, Francesca;
Gargantini, Luigi;
Naretto, Valeria Giorgia

Publication type:

journal article

Triple X syndrome: a review of the literature.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 265, doi. 10.1038/ejhg.2009.109

By:

Otter, Maarten;
Schrander-Stumpel, Constance T. R. M.;
Curfs, Leopold M. G.

Publication type:

Article

Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome.

Published in:

Journal of Human Reproductive Sciences, 2013, v. 6, n. 2, p. 129, doi. 10.4103/0974-1208.117177

By:

Moka, Rajasekhar;
Sreelakshmi, Kodandapani;
Gopinath, Puthiya Mundyat;
Satyamoorthy, Kapettu

Publication type:

Article

Premature ovarian aging in primary infertility: Triple X syndrome.

Published in:

Journal of Human Reproductive Sciences, 2011, v. 4, n. 3, p. 153, doi. 10.4103/0974-1208.92292

By:

Kodandapani, Sreelakshmi;
Pai, Muralidhar V.;
Nambiar, Jayaraman;
Moka, Rajshekar

Publication type:

Article

Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome.

Published in:

2017

By:

Stagi, Stefano;
Di Tommaso, Mariarosaria;
Scalini, Perla;
Sandini, Elena;
Masoni, Fabrizio;
Chiarelli, Francesco;
Verrotti, Alberto;
Giglio, Sabrina;
Romano, Silvia;
Martino, Maurizio

Publication type:

journal article

Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient.

Published in:

Cytogenetic & Genome Research, 2005, v. 111, n. 2, p. 179, doi. 10.1159/000086390

By:

Liehr, T.;
Mrasek, K.;
Starke, H.;
Claussen, U.;
Schreiber, G.

Publication type:

Article

Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the Literature.

Published in:

Fetal Diagnosis & Therapy, 2010, v. 27, n. 2, p. 113, doi. 10.1159/000284929

By:

Bağci, Soyhan;
Müller, Andreas;
Franz, Axel;
Heydweiller, Andreas;
Berg, Christoph;
Nöthen, Markus M.;
Bartmann, Peter;
Reutter, Heiko

Publication type:

Article

The Turner syndrome in patient with 45X/47XXX mosaic karyotype – case report.

Published in:

2015

By:

Maciejewska-Jeske, Marzena;
Czyzyk, Adam;
Meczekalski, Blazej

Publication type:

Case Study

Autism in association with Triple X syndrome.

Published in:

2012

By:

Ali, Syed;
Byrne, Nollaig;
Mulligan, Aisling

Publication type:

Letter

Triple X superwomen: their post-compulsory education and employability.

Published in:

Journal of Education & Work, 2021, v. 34, n. 1, p. 81, doi. 10.1080/13639080.2021.1875126

By:

Attfield, Kate

Publication type:

Article

Sella Turcica Shape in Fragile X Syndrome.

Published in:

In Vivo, 2021, v. 35, n. 6, p. 3581, doi. 10.21873/invivo.12662

By:

FRIEDRICH, REINHARD E.

Publication type:

Article

A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis.

Published in:

Archives of Gynecology & Obstetrics, 2006, v. 274, n. 3, p. 174, doi. 10.1007/s00404-005-0116-9

By:

Jeong-Heon Lee;
Kwan-Sik Kim;
Yong-Gon Cho

Publication type:

Article

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.

Published in:

Human Genetics, 2011, v. 129, n. 5, p. 513, doi. 10.1007/s00439-010-0944-y

By:

Draaken, Markus;
Giesen, Carmen A.;
Kesselheim, Anne L.;
Jabs, Ronald;
Aretz, Stefan;
Kugaudo, Monika;
Chrzanowska, Krystyna H.;
Krajewska-Walasek, Malgorzata;
Ludwig, Michael

Publication type:

Article

A Case of Triple X Syndrome Manifesting with the Syndrome of NonverbalLearning Disabilities.

Published in:

Child Neuropsychology, 1998, v. 4, n. 3, doi. 10.1076/chin.4.3.225.3179

By:

Ryan, Thomas V;
Crews Jr., David W;
Cowen, Lawrence;
Goering, Aeron M;
Barth, Jeffrey T

Publication type:

Article

Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.

Published in:

2018

By:

Sharapova, Svetlana O.;
Valochnik, Alena V.;
Guryanova, Irina E.;
Sakovich, Inga S.;
Aleinikova, Olga V.

Publication type:

Case Study

Structural and numerical changes of chromosome X in patients with esophageal atresia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1077, doi. 10.1038/ejhg.2013.295

By:

Brosens, Erwin;
de Jong, Elisabeth M;
Barakat, Tahsin Stefan;
Eussen, Bert H;
D'haene, Barbara;
De Baere, Elfride;
Verdin, Hannah;
Poddighe, Pino J;
Galjaard, Robert-Jan;
Gribnau, Joost;
Brooks, Alice S;
Tibboel, Dick;
de Klein, Annelies

Publication type:

Article

Genomic imbalances in pediatric patients with chronic kidney disease.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 5, p. 2171, doi. 10.1172/JCI80877

By:

Verbitsky, Miguel;
Sanna-Cherchi, Simone;
Fasel, David A.;
Levy, Brynn;
Kiryluk, Krzysztof;
Wuttke, Matthias;
Abraham, Alison G.;
Kaskel, Frederick;
Köttgen, Anna;
Warady, Bradley A.;
Furth, Susan L.;
Wong, Craig S.;
Gharavi, Ali G.

Publication type:

Article

Schizencephaly in triple-X syndrome.

Published in:

Pediatrics International, 2001, v. 43, n. 3, p. 296, doi. 10.1046/j.1442-200X.2001.01382.x

By:

Ehara, Hiroaki;
Eda, Isematsu

Publication type:

Article

High Myopia Associated with Triple X Syndrome.

Published in:

2016

By:

Nishi, Tomo;
Ogata, Nahoko

Publication type:

Case Study

Jejunal atresia in an infant with triple-X syndrome.

Published in:

2004

By:

Trautner, M. C.;
Aladangady, N.;
Maalouf, E.;
Misra, D.

Publication type:

journal article

PRADER-WILLI SYNDROME WITH ASSOCIATED TRIPLE-X MOSAICISM.

Published in:

Acta Endocrinologica (1841-0987), 2010, v. 6, n. 4, p. 521, doi. 10.4183/aeb.2010.521

By:

Pascanu, I.;
Ruff, R.;
Banescu, C.;
Skrypnyk, C.

Publication type:

Article

The psychiatric phenotype in triple X syndrome: New hypotheses illustrated in two cases.

Published in:

Developmental Neurorehabilitation, 2012, v. 15, n. 3, p. 233, doi. 10.3109/17518423.2012.655799

By:

Otter, Maarten;
Schrander-Stumpel, Constance T. R. M.;
Didden, Robert;
Curfs, Leopold M. G.

Publication type:

Article

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47, XXX/46, XX.

Published in:

Journal of Obstetrics & Gynaecology Research, 2014, v. 40, n. 1, p. 259, doi. 10.1111/jog.12131

By:

Cremonini, Giorgio;
Poggi, Alice;
Capucci, Roberta;
Vesce, Fortunato;
Patella, Alfredo;
Marci, Roberto

Publication type:

Article

Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review.

Published in:

Bulletin of the National Research Centre, 2021, v. 45, n. 1, p. 1, doi. 10.1186/s42269-021-00523-z

By:

Yahaya, Tajudeen O.;
Oladele, Esther O.;
Anyebe, Daniel;
Obi, Chidiebere;
Bunza, M. D. A.;
Sulaiman, Ridwan;
Liman, Usman U.

Publication type:

Article

Triple X Syndrome Woman Presenting as Premature Ovarian Failure.

Published in:

International Journal of Infertility & Fetal Medicine, 2013, v. 4, n. 3, p. 96, doi. 10.5005/jp-journals-10016-1070

By:

Chandana, C.;
Venkatesh, Shreedhar

Publication type:

Article

A Case Associated with Comorbidities Among Cerebral Infarction, Idiopathic Thrombocytopenic Purpura, and Triple X Syndrome.

Published in:

Turkish Journal of Hematology, 2014, v. 31, n. 2, p. 184, doi. 10.4274/tjh.2013.0064

By:

Hanjun Kim;
Sang Sun Hwang;
Young Uh;
Juwon Kim;
Kap Jun Yoon;
Ji-yong Lee

Publication type:

Article