Works matching Turner syndrome and genetics

Results: 214

Turner syndrome and genetic polymorphism: a systematic review.

Published in:

Revista Paulista de Pediatria, 2015, v. 33, n. 3, p. 363, doi. 10.1016/j.rpped.2014.11.014

By:

de Marqui, Alessandra Bernadete Trovó

Publication type:

Article

RECIÉN NACIDO SANO DESPUÉS DE DIAGNÓSTICO GENÉTICO PREIMPLANTATORIO EN UNA MADRE CON SÍNDROME DE TURNER MOSAICO. REPORTE DE CASO Y REVISIÓN DE LA LITERATURA.

Published in:

Revista Colombiana de Obstetricia y Ginecologia, 2020, v. 71, n. 1, p. 56, doi. 10.18597/rcog.3331

By:

Osorio-Ramírez, Walter;
Giraldo-Moreno, Juan;
Gómez-Cortés, Diana;
Olive, David;
Cano-Franco, John;
Tamayo-Hussein, Sergio

Publication type:

Article

Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1.

Published in:

2022

By:

El Qadiry, R.;
Danaoui, K.;
Nassih, H.;
Bourrahouat, A.;
Ait Sab, I.

Publication type:

Case Study

Inference From Nonrandomly Missing Categorical Data: An Example From a Genetic Study on Turner's Syndrome.

Published in:

Journal of the American Statistical Association, 1984, v. 79, n. 388, p. 772, doi. 10.1080/01621459.1984.10477094

By:

Nordheim, Erik V.

Publication type:

Article

胚胎植入前遗传学检测在 Turner 综合征患者中的临床应用.

Published in:

Journal of Kunming Medical University / Kunming Yike Daxue Xuebao, 2023, v. 44, n. 12, p. 100, doi. 10.12259/j.issn.2095-610X.S20231216

By:

陈智镖;
黄秋香;
毛丽华;
陈国勇;
刘芸;
王志红

Publication type:

Article

Numerical magnitude processing impairments in genetic syndromes: a cross-syndrome comparison of Turner and 22q11.2 deletion syndromes.

Published in:

Developmental Science, 2017, v. 20, n. 6, p. n/a, doi. 10.1111/desc.12458

By:

Brankaer, Carmen;
Ghesquière, Pol;
De Wel, Anke;
Swillen, Ann;
De Smedt, Bert

Publication type:

Article

Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 5, p. 1247, doi. 10.1007/s10815-021-02127-y

By:

Liao, Jingnan;
Luo, Keli;
Cheng, Dehua;
Xie, Pingyuan;
Tan, Yueqiu;
Hu, Liang;
Lu, Guangxiu;
Gong, Fei;
Lin, Ge

Publication type:

Article

Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

Published in:

Therapeutics & Clinical Risk Management, 2017, v. 13, p. 613, doi. 10.2147/TCRM.S126301

By:

Bucerzan, Simona;
Miclea, Diana;
Popp, Radu;
Alkhzouz, Camelia;
Lazea, Cecilia;
Pop, Ioan Victor;
Grigorescu-Sido, Paula

Publication type:

Article

ERCİYES ÜNİVERSİTESİ TIP FAKÜLTESİ TIBBİ GENETİK ANABİLİM DALINA BAŞVURAN TURNER SENDROMU TANILI HASTALARIN SİTOGENETİK SONUÇLARI YÖNÜNDEN RETROSPEKTİF OLARAK İNCELENMESİ

Published in:

Journal of Health Sciences / Sağlık Bilimleri Dergisi, 2021, v. 30, n. 2, p. 43

By:

TAŞKIN, Duygu

Publication type:

Article

Analysis of genetic variability in Turner syndrome linked to long-term clinical features.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1227164

By:

Suntharalingham, Jenifer P.;
Ishida, Miho;
Cameron-Pimblett, Antoinette;
McGlacken-Byrne, Sinead M.;
Buonocore, Federica;
Valle, Ignacio del;
Madhan, Gaganjit Kaur;
Brooks, Tony;
Conway, Gerard S.;
Achermann, John C.

Publication type:

Article

Low frequency of acne vulgaris in adolescent girls and women with Turner’s syndrome: a clinical, genetic and hormonal study of 65 patients.

Published in:

2008

By:

Brazzelli, V.;
Larizza, D.;
Muzio, F.;
Calcaterra, V.;
Fornara, L.;
Klersy, C.;
Borroni, G.

Publication type:

Letter

Influence of genetic and environmental factors on melanocytic naevi: a lesson from Turner's syndrome.

Published in:

British Journal of Dermatology, 1998, v. 138, n. 6, doi. 10.1046/j.1365-2133.1998.02265.x

By:

Zvulunov;
Wyatt;
Laud;
Esterly

Publication type:

Article

A case of Turner syndrome with schizophrenia: Genetic relationship between Turner syndrome and psychosis.

Published in:

Psychiatry & Clinical Neurosciences, 1997, v. 51, n. 2, p. 83, doi. 10.1111/j.1440-1819.1997.tb02912.x

By:

KAWANISHI, CHIAKI;
KONO, MASAAKI;
ONISHI, HIDEKI;
ISHII, NORIO;
ISHII, KAZUHIKO

Publication type:

Article

Study of final height in Turner's syndrome: ethnic and genetic influences.

Published in:

1994

By:

Rochiccioli (Toulouse), P;
David (Lyon), M;
Malpuech (Clermont Ferrand), G;
Colle (Bordeaux), M;
Limal (Angers), J M;
Battin (Bordeaux), J;
Mariani (Nice), R;
Sultan (Montpellier), C;
Nivelon (Dijon), J L;
Simonin (Marseille), G;
Bost (Grenoble), M;
Chatelain (Lyon), P;
Bertrand (Besancon), A M;
Freycon (St Etienne), R;
Bouquier (Limoges), J J;
Pierron (Toulon), P;
Rochiccioli, P;
David, M;
Malpuech, G;
Colle, M

Publication type:

journal article

Molecular Genetics of Turner's Syndrome.

Published in:

Acta Paediatrica, 1989, v. 78, n. s356, p. 77, doi. 10.1111/j.1651-2227.1989.tb11251.x

By:

CONNOR, J.M.;
LOUGHLIN, S.A.R.

Publication type:

Article

Metabolic Syndrome in Turner Syndrome and Relation Between Body Composition and Clinical, Genetic, and Ultrasonographic Characteristics.

Published in:

Metabolic Syndrome & Related Disorders, 2014, v. 12, n. 3, p. 159, doi. 10.1089/met.2013.0075

By:

Calcaterra, Valeria;
Brambilla, Paola;
Maffè, Gabriella Carnevale;
Klersy, Catherine;
Albertini, Riccardo;
Introzzi, Francesca;
Bozzola, Elena;
Bozzola, Mauro;
Larizza, Daniela

Publication type:

Article

Genetics. Paternal sex chromosome aneuploidy as a possible origin of Turner syndrome in monozygotic twins: Case report.

Published in:

Human Reproduction, 1999, v. 14, n. 11, p. 2735

By:

Martínez-Pasarell, O.;
Templado, C.;
Vicens-Calvet, E.;
Egozcue, J.;
Nogués, C.

Publication type:

Article

Turner Syndrome: A Review of Genetic and Hormonal Influences on Neuropsychological Functioning.

Published in:

Child Neuropsychology, 2004, v. 10, n. 4, p. 262, doi. 10.1080/09297040490909297

By:

Rovet, Joanne

Publication type:

Article

A Turner-szindróma áttekintése az újabb genetikai ismeretek és a multidiszciplináris beteggondozás tekintetében.

Published in:

Hungarian Medical Journal / Orvosi Hetilap, 2024, v. 165, n. 11, p. 416, doi. 10.1556/650.2024.32998

By:

Beniczky, Nikolett Jusztina;
Szücs, Nikolette;
Gellén, Balázs;
Bertalan, Rita Ágnes

Publication type:

Article

Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 3, p. 256, doi. 10.4274/jcrpe.5119

By:

Zelinska, Nataliya;
Shevchenko, Iryna;
Globa, Evgenia

Publication type:

Article

Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.

Published in:

Prenatal Diagnosis, 2002, v. 22, n. 8, p. 697, doi. 10.1002/pd.383

By:

Gilbert, B.;
Yardin, C.;
Briault, S.;
Belin, V.;
Lienhardt, A.;
Aubard, Y.;
Battin, J.;
Servaud, M.;
Philippe, H. J.;
Lacombe, D.

Publication type:

Article

Prenatal Diagnosis and Genetic Counselling in Turner Syndrome: Case Report and Literature Review.

Published in:

Medicina Moderna, 2018, v. 25, n. 3, p. 107

By:

Tudor, Viorica;
Velicu, Octavia;
Mitran, Mihai;
Bratila, Elvira;
Severin, Emilia

Publication type:

Article

Genetics of Turner's Syndrome.

Published in:

JAMA: Journal of the American Medical Association, 1989, v. 261, n. 13, p. 1958

By:

Hecht, Frederick

Publication type:

Article

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study.

Published in:

Sao Paulo Medical Journal, 2021, v. 139, n. 5, p. 435, doi. 10.1590/1516-3180.2020.0470.R2.110321

By:

Nunes, Maurício Rouvel;
Pereira, Tiago Godói;
Dutra Correia, Henry Victor;
Canabarro, Simone Travi;
Vanz, Ana Paula;
Gazzola Zen, Paulo Ricardo;
Machado Rosa, Rafael Fabiano

Publication type:

Article

FERTILITY BEYOND GENETICS IN TURNER SYNDROME.

Published in:

Acta Endocrinologica (1841-0987), 2005, v. 1, n. 3, p. 351, doi. 10.4183/aeb.2005.351

By:

Lutescu, Ioana;
Gherasie, A.;
Ron-El, R.

Publication type:

Article

Genetic syndromes and autoimmunity: what do we know? Focus on Down and Turner syndrome.

Published in:

Expert Review of Clinical Immunology, 2023, v. 19, n. 9, p. 1051, doi. 10.1080/1744666X.2023.2219896

By:

Li Pomi, Alessandra;
Wasniewska, Malgorzata

Publication type:

Article

The importance of genetic counselling for turner syndrome transition.

Published in:

European Child & Adolescent Psychiatry, 2025, v. 34, n. 3, p. 943, doi. 10.1007/s00787-024-02547-y

By:

Villarreal, Eva M. Lafuente;
Prado, Sara Chulián;
Schack, Anne Kristine;
Sánchez, Sara Álvaro;
Casado, M. Aroa;
Krych, Lukasz;
Garrido-Navas, M. Carmen

Publication type:

Article

Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy.

Published in:

Clinical Genetics, 1999, v. 56, n. 6, p. 441, doi. 10.1034/j.1399-0004.1999.560606.x

By:

Tsezou, A;
Hadjiathanasiou, Ch;
Gourgiotis, D;
Galla, A;
Kavazarakis, Em;
Pasparaki, A;
Kapsetaki, M;
Sismani, C;
Theodoridis, Ch;
Patsalis, Pc;
Moschonas, N;
Kitsiou, S

Publication type:

Article

Conservation of fertility and oocyte genetics in a young woman with mosaic Turner syndrome.

Published in:

BJOG: An International Journal of Obstetrics & Gynaecology, 2010, v. 117, n. 2, p. 238, doi. 10.1111/j.1471-0528.2009.02423.x

By:

Balen, A. H.;
Harris, S. E.;
Chambers, E. L.;
Picton, H. M.

Publication type:

Article

The genetic basis of Turner syndrome aortopathy.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 117, doi. 10.1002/ajmg.c.31686

By:

Corbitt, Holly;
Gutierrez, Jacob;
Silberbach, Michael;
Maslen, Cheryl L.

Publication type:

Article

Parental GM and HLA Genotypes and Reduced Birth Weight in Patients with Turner's Syndrome.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2002, v. 15, n. 8, p. 1183, doi. 10.1515/jpem.2002.15.8.1183

By:

Larizza, Daniela;
Martinetti, Miryam;
Dugoujon, Jean Michel;
Tinelli, Carmine;
Calcaterra, Valeria;
Cuccia, Mariaclara;
Salvaneschi, Laura;
Seven, Francesca

Publication type:

Article

Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00515-0

By:

Leone, Paola E.;
Yumiceba, Verónica;
Jijón-Vergara, Ariana;
Pérez-Villa, Andy;
Armendáriz-Castillo, Isaac;
García-Cárdenas, Jennyfer M.;
Guerrero, Santiago;
Guevara-Ramírez, Patricia;
López-Cortés, Andrés;
Zambrano, Ana K.;
Hernández-Rivas, Jesús M.;
García, Juan Luis;
Paz-y-Miño, César

Publication type:

Article

Reproductive health in Turner's syndrome: from puberty to pregnancy.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1269009

By:

Porcu, Eleonora;
Cipriani, Linda;
Damiano, Giuseppe

Publication type:

Article

Chromosomal Abnormalities in 344 Patients who Were Referred to Cytogenetics Laboratory with Pre-Diagnosis of Short Stature, Turner Syndrome and Sex Developmental Disorders.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 91

By:

Rashnonejad, Afrooz;
Atik, Tahir;
Tekin, İsmihan Merve;
Turan, Caner;
Torun, Ozan;
Özen, Samim;
Çoğulu, Özgür;
Gökşen, Damla;
Darcan, Şükran;
Özkınay, Ferda

Publication type:

Article

The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 18, p. 10169, doi. 10.3390/ijms251810169

By:

Kucharska, Anna;
Witkowska-Sędek, Ewelina;
Erazmus, Michał;
Artemniak-Wojtowicz, Dorota;
Krajewska, Maria;
Pyrżak, Beata

Publication type:

Article

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple.

Published in:

2023

By:

Al Harthy, Talib;
Colaiacovo, Samantha;
Gratton, Robert J.;
Coughlin, Kevin;
Siu, Victoria Mok;
Prasad, Chitra;
Rupar, Charles;
Saleh, Maha

Publication type:

Case Study

Insulin resistance during growth hormone therapy In girls with Turner syndrome.

Published in:

Pediatric Endocrinology / Endokrynologia Pediatryczna, 2014, v. 13, n. 3, p. 17, doi. 10.18544/ep-01.13.03.1491

By:

Beń-Skowronek, Iwona;
Fieluba, Monika;
Szyndler, Beata;
Lewicki, Marcin;
Szukiewicz, Martyna;
Kapczuk, Iga

Publication type:

Article

Delayed puberty versus hypogonadism: a challenge for the pediatrician.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 2, p. 58, doi. 10.6065/apem.2018.23.2.57

By:

Bozzola, Mauro;
Bozzola, Elena;
Montalbano, Chiara;
Stamati, Filomena Andreina;
Ferrara, Pietro;
Villani, Alberto

Publication type:

Article

Diagnostic and therapeutic considerations in Turner syndrome.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2017, v. 22, n. 4, p. 226, doi. 10.6065/apem.2017.22.4.226

By:

Seung Yang

Publication type:

Article

DNA Hypermethylation and a Specific Methylation Spectrum on the X Chromosome in Turner Syndrome as Determined by Nanopore Sequencing.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 6, p. 872, doi. 10.3390/jpm12060872

By:

Fan, Xin;
Zhang, Beibei;
Fan, Lijun;
Chen, Jiajia;
Su, Chang;
Cao, Bingyan;
Wei, Liya;
Qin, Miao;
Gong, Chunxiu

Publication type:

Article

Genetic conditions of short stature: A review of three classic examples.

Published in:

Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1011960

By:

Butler, Merlin G.;
Miller, Bradley S.;
Romano, Alicia;
Ross, Judith;
Abuzzahab, M. Jennifer;
Backeljauw, Philippe;
Bamba, Vaneeta;
Bhangoo, Amrit;
Mauras, Nelly;
Geffner, Mitchell

Publication type:

Article

The Cutoff of Gonadotropins for Close Evaluation of Cardiometabolic Risk Factors in Turner Syndrome.

Published in:

International Journal of Preventive Medicine, 2022, v. 13, n. 1, p. 1, doi. 10.4103/ijpvm.IJPVM_321_20

By:

Koohmanaee, Shahin;
Motamed, Behrang;
Ghorbandoust, Sharareh;
Badeli, Hamidreza;
Rad, Afagh Hassanzadeh;
Dalili, Setila;
Darabipour, Zohre

Publication type:

Article

Reproductive outcomes in men with karyotype abnormalities: Case report and review of the literature.

Published in:

2015

By:

Kohn, Taylor P.;
Clavijo, Raul;
Ramasamy, Ranjith;
Hakky, Tariq;
Candrashekar, Aravind;
Lamb, Dolores J.;
Lipshultz, Larry I.

Publication type:

Case Study

Clinical application of an automatic facial recognition system based on deep learning for diagnosis of Turner syndrome.

Published in:

Endocrine (1355008X), 2021, v. 72, n. 3, p. 865, doi. 10.1007/s12020-020-02539-3

By:

Pan, Zhouxian;
Shen, Zhen;
Zhu, Huijuan;
Bao, Yin;
Liang, Siyu;
Wang, Shirui;
Li, Xiangying;
Niu, Lulu;
Dong, Xisong;
Shang, Xiuqin;
Chen, Shi;
Pan, Hui;
Xiong, Gang

Publication type:

Article

Andere spezifische Diabetesformen.

Published in:

Wiener Klinische Wochenschrift, 2016, v. 128, p. 208, doi. 10.1007/s00508-016-0997-6

By:

Vila, Greisa;
Gessl, Alois;
Riedl, Michaela;
Luger, Anton

Publication type:

Article

Ductopenia and fetal liver-like architecture as unique and evocative sign of Turner syndrome.

Published in:

European Review for Medical & Pharmacological Sciences, 2013, v. 17, n. 8, p. 1132

By:

VALENTINI, P.;
ANGELONE, D. F.;
ROSSODIVITA, A.;
FRANCALANCI, P.;
BUONSENSO, D.;
CECCARELLI, M.;
CALLEA, F.

Publication type:

Article

Unicuspid aortic valve in Turner syndrome, detected by 3D transoesophageal echocardiography: The usefulness of 3D echo in challenge diagnosis.

Published in:

Echocardiography, 2020, v. 37, n. 10, p. 1691, doi. 10.1111/echo.14854

By:

D'Alfonso, Maria Grazia;
Oddo, Andrea;
Stefano, Pieluigi;
Mori, Fabio

Publication type:

Article

Renal Transplantation in a Patient with Turner Syndrome.

Published in:

Indian Journal of Transplantation, 2023, v. 17, n. 1, p. 146, doi. 10.4103/ijot.ijot_46_22

By:

Nerli, R. B.;
Vernekar, Ritesh;
Chandra, Shoubhik;
Dixit, Neeraj S.;
Ghagane, Shridhar C.

Publication type:

Article

SHOX at a glance: from gene to protein.

Published in:

Archives of Physiology & Biochemistry, 2007, v. 113, n. 3, p. 116, doi. 10.1080/13813450701531201

By:

Marchini, Antonio;
Rappold, Gudrun;
Schneider, Katja U.

Publication type:

Article

Hypertrophic scars in a patient with Turner's syndrome treated with recombinant growth hormone.

Published in:

Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2014, v. 31, n. 2, p. 117, doi. 10.5114/pdia.2014.40917

By:

Kędzia, Andrzej;
Pawlaczyk, Mariola;
Petriczko, Elżbieta

Publication type:

Article