Works matching DE "SEX chromosome abnormalities"

Results: 506

Reproductive outcomes after preimplantation genetic testing in couples with sex chromosome abnormalities: a retrospective cohort study of 83 couples.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 12, p. 3415, doi. 10.1007/s10815-024-03303-6

By:

Yang, Tianying;
Xiao, Min;
Sun, Xiaoxi;
Li, He

Publication type:

Article

Clinical, cytogenomic, and molecular characterization of isodicentric Y-chromosome and prediction of testicular sperm retrieval outcomes in azoospermic and severe oligozoospermic infertile men.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 12, p. 2799, doi. 10.1007/s10815-022-02632-8

By:

Abur, Ummet;
Gunes, Sezgin;
Hekim, Neslihan;
Akar, Omer Salih;
Altundag, Engin;
Asci, Ramazan

Publication type:

Article

Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 3, p. 727, doi. 10.1007/s10815-020-02056-2

By:

Yang, Jiexia;
Hou, Yaping;
Guo, Fangfang;
Peng, Haishan;
Wang, Dongmei;
Li, Yi;
OY, Haoxin;
Wang, Yixia;
Lu, Jian;
Yin, Aihua

Publication type:

Article

Variations in chromosomal aneuploidy rates in IVF blastocysts and early spontaneous abortion chorionic villi.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 3, p. 527, doi. 10.1007/s10815-019-01682-9

By:

Zhang, Xintian;
Wang, Yun;
Zhao, Nan;
Liu, Ping;
Huang, Jin

Publication type:

Article

Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 7, p. 1471, doi. 10.1007/s10815-019-01486-x

By:

Jesus, Ana Rita;
Silva-Soares, Sandra;
Silva, Joaquina;
Severo, Milton;
Barros, Alberto;
Dória, Sofia

Publication type:

Article

An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization.

Published in:

2018

By:

Mekkawy, Mona K.;
El Guindi, Ahmed M.;
Mazen, Inas M.;
Fayez, Alaaeldin G.;
Mohamed, Amal M.;
Kamel, Alaa K.

Publication type:

Case Study

Comprehensive genetic testing for female and male infertility using next-generation sequencing.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 8, p. 1489, doi. 10.1007/s10815-018-1204-7

By:

Patel, Bonny;
Parets, Sasha;
Akana, Matthew;
Kellogg, Gregory;
Jansen, Michael;
Chang, Chihyu;
Cai, Ying;
Fox, Rebecca;
Niknazar, Mohammad;
Shraga, Roman;
Hunter, Colby;
Pollock, Andrew;
Wisotzkey, Robert;
Jaremko, Malgorzata;
Bisignano, Alex;
Puig, Oscar

Publication type:

Article

Genetics of primary ovarian insufficiency: a review.

Published in:

Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 12, p. 1573, doi. 10.1007/s10815-014-0342-9

By:

Fortuño, Cristina;
Labarta, Elena

Publication type:

Article

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia.

Published in:

Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 5, p. 729, doi. 10.1007/s10815-013-9990-4

By:

Pylyp, Larysa;
Spinenko, Lyudmyla;
Verhoglyad, Natalia;
Zukin, Valery

Publication type:

Article

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China.

Published in:

Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 8, p. 829, doi. 10.1007/s10815-012-9783-1

By:

Li, Dingyang;
Zhang, Hongguo;
Wang, Ruixue;
Zhu, Haibo;
Li, Linlin;
Liu, Ruizhi

Publication type:

Article

Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm.

Published in:

2007

By:

Kyono, Koichi;
Uto, Hirofumi;
Nakajo, Yukiko;
Kumagai, Shima;
Araki, Yasuhisa;
Kanto, Satoru

Publication type:

Case Study

Parental decisions regarding prenatally detected fetal sex chromosomal abnormality and the impact of genetic counselling: An analysis of 57 cases in Taiwan.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2008, v. 48, n. 2, p. 155, doi. 10.1111/j.1479-828X.2008.00828.x

By:

Sheng-Wen Shaw;
Ho-Yen Chueh;
Shuenn-Dyh Chang;
Po-Jen Cheng;
T'sang-T'ang Hsieh;
Yung-Kuei Soong

Publication type:

Article

Development and validation of a novel 26-plex system for prenatal diagnosis with forensic markers.

Published in:

International Journal of Legal Medicine, 2022, v. 136, n. 2, p. 527, doi. 10.1007/s00414-022-02780-7

By:

Xie, Mingkun;
Li, Jienan;
Hu, Huan;
Wang, Panpan;
Cong, Xueqi;
Li, Jingzhi;
Dai, Lei;
Lu, Yang;
Zhang, Weishe

Publication type:

Article

Thoracic Vertebral Fracture in a Female Case of Ankylosing Spondylitis Complicated with Turner Syndrome and Insufficient Response to Adalimumab.

Published in:

2024

By:

Wen, Lin;
Huang, Jinxian

Publication type:

Abstract

Discrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening.

Published in:

Journal of the Endocrine Society, 2025, v. 9, n. 2, p. 1, doi. 10.1210/jendso/bvaf007

By:

Witchel, Selma F;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A

Publication type:

Article

Evaluation of the Efficacy of Transdermal and Injection Testosterone Therapy in Klinefelter Syndrome: A Real-Life Study.

Published in:

Journal of the Endocrine Society, 2021, v. 5, n. 6, p. 1, doi. 10.1210/jendso/bvab062

By:

Kabilan, Apiraa;
Skakkebæk, Anne;
Chang, Simon;
Gravholt, Claus H

Publication type:

Article

Evaluation of the Genetic Analysis Results in Infertile Patients with Non-Obstructive Azoospermia.

Published in:

Journal of Urological Surgery, 2023, v. 10, n. 3, p. 233, doi. 10.4274/jus.galenos.2022.2022.0066

By:

Şen, Erhan;
Kızılkan, Yalçın;
Duran, Mesut Berkan;
Turunç, Tahsin;
Şahin, Feride İffet;
Özkardeş, Hakan

Publication type:

Article

The clinical analysis of small supernumerary marker chromosomes in 17 children with mos 45,X/46,X,+mar karyotype.

Published in:

Oncology Letters, 2017, v. 13, n. 6, p. 4385, doi. 10.3892/ol.2017.5965

By:

HONGYING WANG;
TING WANG;
NAICHAO YANG;
YAXIANG HE;
LINQI CHEN;
LIYI HONG;
XUEJUN SHAO;
HONG LI;
HONG ZHU;
HAIBO LI

Publication type:

Article

Osthole induces lung cancer cell apoptosis through inhibition of inhibitor of apoptosis family proteins.

Published in:

Oncology Letters, 2016, v. 12, n. 5, p. 3779, doi. 10.3892/ol.2016.5170

By:

XIAO-MAN XU;
MAN-LI ZHANG;
YI ZHANG;
LI ZHAO

Publication type:

Article

Excellence, Deviance, and Gender: Lessons From the XYY Episode.

Published in:

American Journal of Bioethics, 2012, v. 12, n. 7, p. 27, doi. 10.1080/15265161.2012.681338

By:

Shani, Roi;
Barilan, YechielMichael

Publication type:

Article

CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE.

Published in:

British Journal of Dermatology, 1971, v. 84, n. 5, p. 410, doi. 10.1111/j.1365-2133.1971.tb02524.x

By:

Jensen, N. E.

Publication type:

Article

ECTODERMAL DYSPLASIAS IN CATTLE.

Published in:

British Journal of Dermatology, 1971, v. 84, n. 3, p. 258, doi. 10.1111/j.1365-2133.1971.tb14216.x

By:

Selmanowitz, Victor J.

Publication type:

Article

Congenital Ectodermal Defect with Nail Dystrophy and Resorption of Terminal Phalanges.

Published in:: 1970
Publication type:: Proceeding

Rapp–Hodgkin syndrome and the tail of p63.

Published in:

Clinical & Experimental Dermatology, 2005, v. 30, n. 2, p. 183, doi. 10.1111/j.1365-2230.2004.01715.x

By:

Chan, I.;
McGrath, J. A.;
Kivirikko, S.

Publication type:

Article

A novel 7-bp deletion mutation in a Taiwanese family with X-linked hypohidrotic ectodermal dysplasia.

Published in:

Clinical & Experimental Dermatology, 2004, v. 29, n. 5, p. 536, doi. 10.1111/j.1365-2230.2004.01547.x

By:

Lin, T.-K.;
Huang, C.-Y.;
Lin, M.-H.;
Chao, S.-C.

Publication type:

Article

Ectodermal dysplasia showing clinical overlap between AEC, Rapp–Hodgkin and CHAND syndromes.

Published in:

Clinical & Experimental Dermatology, 2004, v. 29, n. 5, p. 486, doi. 10.1111/j.1365-2230.2004.01584.x

By:

Sahin, M. T.;
Turei-Ermertcan, A.;
Chan, I.;
McGrath, J. A.;
Öztürkcan, S.

Publication type:

Article

The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does 'disorders of sexual development (DSD)' classification based on new Chicago consensus cover all sex chromosome DSD?

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 10, p. 1497, doi. 10.1007/s00431-012-1754-0

By:

Öcal, Gönül;
Berberoğlu, Merih;
Şıklar, Zeynep;
Ruhi, Hatice;
Tükün, Ajlan;
Çamtosun, Emine;
Erdeve, Şenay;
Hacıhamdioğlu, Bülent;
Fitöz, Suat

Publication type:

Article

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

Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation.

Published in:

2010

By:

Ko, Jung-Hee;
Lee, Hyo Sung;
Hong, Jeong;
Hwang, Jin Soon

Publication type:

journal article

Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion.

Published in:

2004

By:

Kokalj-Vokac, Nadja;
Marcun-Varda, Natasa;
Zagorac, Andreja;
Erjavec-Skerget, Alenka;
Zagradisnik, Boris;
Todorovic, Mirjana;
Gregoric, Alojz

Publication type:

journal article

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

Published in:

European Journal of Pediatrics, 2003, v. 162, n. 11, p. 767

By:

Gal, Andreas;
Ries, Markus;
Beck, Michael;
Whybra, Catharina;
Ramaswami, Uma;
Parini, Rossella;
Lind blad, Bengt;
Willers, Ingrid

Publication type:

Article

A rapid technique for detecting chromosomal aneuploidy in early childhood by fluorescence in situ hybridisation.

Published in:

2000

By:

Tardy, Erika P.;
Tóth, András;
Tardy, E P;
Tóth, A

Publication type:

Letter

An exploratory study of the kinematics of girls with Turner Syndrome in a visuo-motor task.

Published in:

Infant & Child Development, 2003, v. 12, n. 3, p. 267, doi. 10.1002/icd.290

By:

B.C.M. Smits-Engelsman;
M.W.G. Nijhuis van der Sanden;
J. Duysens

Publication type:

Article

Pregnancies with positive non-invasive prenatal testing result for sex chromosome abnormalities in a tertiary hospital in Hong Kong.

Published in:

Hong Kong Journal of Gynaecology, Obstetrics & Midwifery, 2022, v. 22, n. 2, p. 87, doi. 10.12809/hkjgom.22.2.07

By:

SO, P. L.;
Lai, S.;
WONG, P. P.;
SIONG, K. H.;
LEUNG, H. K.;
SIN, W. K.;
KAN, Anita S. Y.;
LUK, H. M.;
LO, Ivan F. M.;
YEUNG, K. C. A. U.;
WONG, S. F.

Publication type:

Article

An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.

Published in:

2022

By:

Hovnik, Tinka;
Zitnik, Eva;
Avbelj Stefanija, Magdalena;
Bertok, Sara;
Sedej, Katarina;
Bancic Silva, Vesna;
Battelino, Tadej;
Groselj, Urh

Publication type:

Case Study

Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China.

Published in:

Genes, 2021, v. 12, n. 4, p. 478, doi. 10.3390/genes12040478

By:

Lai, Yunli;
Zhu, Xiaofan;
He, Sheng;
Dong, Zirui;
Tang, Yanqing;
Xu, Fuben;
Chen, Yun;
Meng, Lintao;
Tao, Yuli;
Yi, Shang;
Su, Jiasun;
Huang, Hongqian;
Luo, Jingsi;
Leung, Tak Yeung;
Wei, Hongwei

Publication type:

Article

Intersex: cultural and social perspectives.

Published in:

2021

By:

Monro, Surya;
Carpenter, Morgan;
Crocetti, Daniela;
Davis, Georgiann;
Garland, Fae;
Griffiths, David;
Hegarty, Peter;
Travis, Mitchell;
Cabral Grinspan, Mauro;
Aggleton, Peter

Publication type:

journal article

Ectodermal Dysplasia: Report of Four Cases and Review of Literature.

Published in:

2008

By:

Balci, Gokcen;
Baskan, Sabiha Zelal;
Akdeniz, Sedat

Publication type:

Case Study

Fatal dissection of the descending aorta after implantation of a stent in a 19-year-old female with Turner's syndrome.

Published in:

2005

By:

Fejzic, Zina;
van Oort, Anton

Publication type:

journal article

Sudden unexpected cardiac death in a patient with Turner's syndrome.

Published in:

Cardiology in the Young, 2004, v. 14, n. 2, p. 192, doi. 10.1017/S1047951104002124

By:

Gerlis, Leon M.;
Gatzoulis, Michael;
Ho, Siew Yen;
Sheppard, Mary N.

Publication type:

Article

Bipolar affective disorder in a male with a deletion of Y chromosome– a case report.

Published in:

Bipolar Disorders, 2005, v. 7, n. 3, p. 298, doi. 10.1111/j.1399-5618.2005.00198.x

By:

Olajossy, Marcin;
Olajossy‐Hilkesberger, Luiza;
Tkaczuk‐Włach, Joanna

Publication type:

Article

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1642, doi. 10.1038/ejhg.2009.96

By:

Hersmus, Remko;
de Leeuw, Bertie H. C. G. M.;
Stoop, Hans;
Bernard, Pascal;
van Doorn, Helena C.;
Brüggenwirth, Hennie T.;
Drop, Stenvert L. S.;
Oosterhuis, J. Wolter;
Harley, Vincent R.;
Looijenga, Leendert H. J.

Publication type:

Article

Is the prevalence of Klinefelter syndrome increasing?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 163, doi. 10.1038/sj.ejhg.5201956

By:

Morris, Joan K;
Alberman, Eva;
Scott, Claire;
Jacobs, Patricia

Publication type:

Article

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 76, doi. 10.1038/sj.ejhg.5201719

By:

Gimelli, Giorgio;
Gimelli, Stefania;
Dimasi, Nazzareno;
Bocciardi, Renata;
Battista, Eliana Di;
Pramparo, Tiziano;
Zuffardi, Orsetta

Publication type:

Article

Application value of NIPT for uncommon fetal chromosomal abnormalities.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00508-z

By:

Yin, Lianli;
Tang, Yinghua;
Lu, Qing;
Pan, Aiping;
Shi, Mingfang

Publication type:

Article

Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0472-y

By:

He, Si;
Xi, Hui;
Chen, Jing;
Wang, Dan;
Pang, Jialun;
Hu, Jiancheng;
Liu, Qin;
Jia, Zhengjun;
Wang, Hua

Publication type:

Article

A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning.

Published in:

2017

By:

Villa, N.;
Conconi, D.;
Benussi, D. Gambel;
Tornese, G.;
Crosti, F.;
Sala, E.;
Dalprà, L.;
Pecile, V.

Publication type:

Case Study

Prenatal diagnostics in TESA//PESA pregnancies in Denmark 1995-2007: a shift from invasive procedures to nuchal translucency examination.

Published in:

Systems Biology in Reproductive Medicine, 2011, v. 57, n. 5, p. 256, doi. 10.3109/19396368.2011.578703

By:

Fedder, Jens;
Erb, Karin;
Humaidan, Peter;
Maigaard, Svend;
Gabrielsen, Anette;
Pedersen, Bjørn;
Kaspersen, Maja Døvling;
Loft, Anne

Publication type:

Article

Morgagni Hernia in a Girl With Turner Syndrome.

Published in:

Turkish Journal of Endocrinology & Metabolism, 2008, v. 12, n. 2, p. 60

By:

Arıkan, Şenay;
Bahçeci, Mitat;
Tuzcu, Alpaslan;
Çiğdem, Murat Kemal;
Kaya, Ramazan

Publication type:

Article

Prevalence and patterns of chromosomal abnormalities among Egyptian patients with infertility: a single institution's 5-year experience.

Published in:

Middle East Fertility Society Journal, 2022, v. 27, n. 1, p. 1, doi. 10.1186/s43043-022-00101-x

By:

El-Dahtory, Faeza;
Yahia, Sohier;
Rasheed, Rabab Ahmed;
Wahba, Yahya

Publication type:

Article